Neurology Asia https://neurology-asia.org/system/index.php/neuro <p>Neurology Asia (ISSN 1823-6138), previously known as Neurological Journal of South East Asia (ISSN 1394-780X), is the official journal of the <a href="http://neurology-asia.org/asna.php">ASEAN Neurological Association (ASNA)</a>, <a href="http://www.aoanasia.org/">Asian &amp; Oceanian Association of Neurology (AOAN)</a>, and the Asian &amp; Oceanian Child Neurology Association. The primary purpose is to publish the results of study and research in neurology, with emphasis to neurological diseases occurring primarily in Asia, aspects of the diseases peculiar to Asia, and practices of neurology in Asia (Asian neurology).</p> <p>Neurology Asia is indexed in <a href="http://www.thomsonreuters.com/">Thompson Reuters (Thomson ISI)</a> under Science Citation Index Expanded and Journal Citation Reports / Science Edition, <a href="http://www.ebsco.com/">EBSCO</a> in Academic Search Complete Database, <a href="http://www.scopus.com/">Scopus</a>, <a href="http://www.wprim.org/">WHO Western Pacific Region Index Medicus</a>, <a href="http://www.embase.com/">Embase</a>, <a href="http://scholar.google.com/">Google Scholar</a> and <a href="http://www.doaj.org/">DOAJ (Directory of Open Access Journals)</a>.</p> <p>The electronic version of the Journal is available on the website: <a href="http://www.neurology-asia.org/">www.neurology-asia.org</a><br />Neurology Asia is an open access journal, where the users have the right to read, download, copy, distribute, print, search, or link to the full texts of the articles.</p> ASEAN Neurological Association (ASNA) en-US Neurology Asia 1823-6138 Analysis of risk factors affecting moderate and severe prognosis after discharge in patients with acute cerebral infarction https://neurology-asia.org/system/index.php/neuro/article/view/2418 <p>Objective: To investigate risk factors affecting short-term functional prognosis after discharge in patients with acute cerebral infarction and explore the correlation between relevant factors and National Institutes of Health Stroke Scale (NIHSS) scores.</p> <p>Methods: A retrospective analysis of 4,048 patients with acute cerebral infarction hospitalised between January 2014 and November 2018 in Department of Neurology, Renqiu Kangji Xintu Hospital, Hebei were conducted. The enrolled patients, including 2,506 men and 1,542 women, were divided into mild (n=3,696), moderate (n=278) and severe groups (n=74) based on NIHSS score. Baseline data (gender, history of hypertension, diabetes, hyperlipidaemia, drinking, cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, lipoprotein (a), urea nitrogen, creatinine) were compared among the three groups, and the relationship between relevant factors and NIHSS scores was studied.</p> <p>Results: Through single factor regression analysis, it was found that age, history of stroke, atrial fibrillation, coronary heart disease, antiplatelet medication usage, systolic blood pressure and uric acid were risk factors for the moderate group. Multivariate logistic regression analysis showed that, after adjusting for confounding factors, age, history of stroke and systolic blood pressure (P&lt;0.01) were independent risk factors for the moderate group. Age (OR=1.089; , history of stroke, atrial fibrillation, diastolic blood pressure, fasting plasma glucose and uric acid (P&lt;0.05) were independent risk factors for the severe group.</p> <p>Conclusion: Age, history of stroke, atrial fibrillation, systolic and diastolic blood pressure, fasting plasma glucose and uric acid levels are independent risk factors affecting the short-term post-discharge functional prognosis of patients with acute cerebral infarction and are related to the NIHSS scores of these patients after discharge.</p> Huiling Zhang Suying Gao Yifan Qin Kai Yu Guangbo Zhang Lihua Xu Dongliang Liu Ruijun Ji Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 285 292 10.54029/2024iuc Hyperuricemia as a risk factor for cerebral hemorrhage in young and middle-aged hypertensive patients at high altitude https://neurology-asia.org/system/index.php/neuro/article/view/2256 <p>Background: The purpose of this research was to investigate the effect of uric acid on hypertensive intracerebral hemorrhage (HICH) in young and middle-aged hypertensive patients at high altitude.</p> <p>Methods: High-altitude and low-altitude HICH patients were analyzed retrospectively, and the influence of uric acid on hemorrhage was analyzed by the correlations between age and uric acid, between age and hemoglobin, and between uric acid and hemoglobin. The individuals in the high- and low-altitude groups were assigned to a young/middle-aged group and an elderly group, and the correlation between age and uric acid was analyzed. The risk factors for HICH were analyzed by logistic regression analysis. ROC curve analysis was used to investigate the relationship between risk factors and cerebral hemorrhage.</p> <p>Results: Age was negatively correlated with uric acid concentration in patients with HICH at high altitudes but not in patients with HICH at low altitudes. In addition, age was negatively correlated with hemoglobin in patients with HICH at high altitudes but not in patients with HICH at low altitudes. Uric acid was negatively correlated with age in young and middle-aged adults at high altitudes but not in elderly individuals. Diastolic pressure, uric acid and sex were risk factors for HICH in young and middle-aged adults at high altitudes. ROC curve showed that uric acid and diastolic pressure had diagnostic significance.</p> <p>Conclusions: High levels of uric acid is correlated with increased risk of cerebral hemorrhage in young and middle-aged adults with hypertension in high altitude.</p> Chi Lin Bo Zhang Xiaolong Zhao Donglin Xu Taoxi Zong Yong Shen Yanxiang Tong Shiying Chen Weihua Chu Linjie Wei Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 293 300 10.54029/2024jyx Technical aspects and outcomes of endovascular treatment for vertebrobasilar tandem occlusions as compared to isolated basilar artery occlusion https://neurology-asia.org/system/index.php/neuro/article/view/2454 <p>Background: The optimal treatment approach for posterior circulation tandem occlusion remains unclear. This study aimed to assess the efficacy and safety of treatment strategies for vertebrobasilar tandem occlusions as compared to isolated basilar artery occlusions. This study investigates the challenges of managing these complex cerebrovascular conditions and explores the feasibility of optimizing treatment approaches to improve patient outcomes and safety.</p> <p>Methods: Fifty-nine patients with acute posterior large-vessel occlusion stroke who underwent mechanical thrombectomy between November 2016 and December 2022 were retrospectively analyzed. Patients were categorized as isolated or tandem basilar artery occlusion. The baseline patient characteristics, risk factors, time metrics, recanalization rates, and angiographic characteristics were compared between groups. The study analyzed various interventional strategies, including thrombectomy technique, additional angioplasty, the approach to lesion patterns (ipsilateral to steno-occlusive VA lesion: dirty road or contralateral: clean road), and the sequence of actions during the procedures. The outcome measures were a 90-day modified Rankin scale (mRS) of 4-6, post-thrombectomy recanalization defined as mTICI -2b, 90-day mortality.</p> <p>Results: Out of the 59 patients, 39 (66%) had isolated basilar occlusion(i-BAO), while 20 (33%) presented with tandem occlusions (t-BAO). Patients with i-BAO and t-BAO had mean ages of 59.08±12.53 and 56.30±12.94 years, respectively. Both groups had a median NIHSS score of 22 upon admission. t-BAO group had longer times from symptom onset to hospital admission and recanalization times compared to i-BAO. (median 270 min versus 60min, p=0.015; 384 min versus 240 min, p=0.03). Successful recanalization (modified thrombolysis in cerebral infarction score ≥2b) was obtained in 13 (76.4%) versus 35 (89.7%) patients with t-BAO versus i-BAO, respectively. Thrombectomy performed aspiration with a distal access catheter (CA) was more common in the isolated basilar occlusion group (73.7% vs. 43.8%). In contrast, stent retrievers (SR) were more common in the tandem group (37.5% vs. 18.4). Access was achieved in 17 patients with tandem occlusion. The clean road approach was used in 58.8 % of cases, and the dirty road in 41.2%. t-BAO procedures involved a higher number of intraprocedural passes (median 2.5 vs. 1.5, p=0.047). Third-month mortality rate was significantly higher in the t-BAO group (66.7% vs. 38.5%, p=0.047). Multivariate logistic regression identified a number of passes ≥3 as an independent risk factor for poor clinical outcome at three months (OR=14; 95% CI, 2.596-77.208).</p> <p>Conclusions: Endovascular intervention via mechanical thrombectomy has been demonstrated to be both safe and feasible as a treatment approach for patients presenting with tandem occlusions in the posterior circulation.</p> Baki Dogan Fatma Ger Akarsu Zehra Uysal Kocabaş Özlem Aykaç Atilla Özcan Özdemir Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 301 310 10.54029/2024yhu Location of the contrast extravasation is important in predicting outcome of anterior circulation stroke patients https://neurology-asia.org/system/index.php/neuro/article/view/2478 <p>Objectives: Contrast extravasations (CE) are frequently seen on postprocedural computed tomography after endovascular therapy (EVT). This study aimed to investigate the relationship between patients’ outcomes and CE after EVT.</p> <p>Methods: Stroke patients who had received EVT between 2019 and 2021 were reviewed retrospectively. The CEs were mapped using MRIcroGL software. The rate of in-hospital mortality and modified Rankin Scale at 90 days were taken as outcome measures. Stepwise logistic regression analyses were performed. Three models were created with and without pure CE to predict the patients’ outcomes.</p> <p>Results: There were 126 patients included in the study. According to the univariable analysis, CE (OR = 0.70, 95% CI = 0.18–2.68, P = 0.26) and CE-ASPECTS (OR = 1.21, 95% CI=0.60-2.44, P = 0.57) were not related with in-hospital mortality after EVT. The lesion mapping showed that the most common CE locations among the patients with a poor prognosis was the M6 area. The multivariable logistic regression analysis showed that CE in the M6 area (OR = 6.87, 95% CI = 1.27–144.92, P = 0.006) increased the risk of a 3-month poor outcome. The study showed that adding CE to the well-known risk factors for poor prognosis improves the predictive power of the models (ΔAUC of 0.07, P = 0.02).</p> <p>Conclusion: CE has a prognostic value after EVT in anterior stroke patients. The prognostic value is the highest when present in the M6 area.</p> Hüseyin Nezih Özdemir Bedriye Karaman Ayse Guler Birgül Dere Celal Çınar Dursun Emre Kumral Hadiye Şirin Neşe Çelebisoy Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 311 320 10.54029/2024wcy Predictive factors of hyponatremia in subarachnoid hemorrhage and outcomes https://neurology-asia.org/system/index.php/neuro/article/view/2499 <p>Background &amp; Objective: The prevalence of hyponatremia in subarachnoid hemorrhage (SAH) was 30-55%. There was lack of evidence about predictive factors and clinical outcomes of hyponatremia in SAH patients. This study aimed to evaluate factors associated with hyponatremia following SAH and to review the clinical outcomes and treatment of hyponatremia in SAH patients.</p> <p>Method: This is a retrospective cohort study. SAH patients presented during January 2013 to January 2019 were reviewed. They were divided into 2 groups: SAH with normonatremia and SAH with hyponatremia. Clinical data, laboratory profile, aneurysm characteristics and clinical outcomes were recorded and analyzed.</p> <p>Result: A total number of 278 patients with SAH were included, 139 patients in each group. The populations were female 66% with mean age of 56 years old and mean serum sodium (Na) level 132 mmol/L. Aneurysm location associated with hyponatremia; anterior cerebral artery (ACA) (OR 4.2, 95%CI 1.4-13.0, p-value 0.009) and posterior cerebral artery (PCA) (OR 3.7, 95%CI 1.2-11.5, p-value 0.017). Aneurysms clipping procedure was also associated with hyponatremia (OR 4.0, 95%CI 1.8-8.8, p-value &lt; 0.001).</p> <p>Conclusion: ACA and PCA aneurysms and aneurysms clipping procedure were risk factors for hyponatremia following SAH. Mild hyponatremia was not associated with morbidity and mortality in SAH patients.</p> Chokchai Chaovarin Pungjai Keandoungchun Ampai Phinthusophon Korrapak Wangtanaphat Srikul Veerasarn Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 321 328 10.54029/2024wfc The effects of continuing care based on WeChat platform and MDT on outcomes and negative emotions in young and middle-aged patients with stroke sequelae https://neurology-asia.org/system/index.php/neuro/article/view/2115 <p>Objective: This study aimed to investigate the effect of continuing care based on WeChat platform and MDT (multidisciplinary team) on outcomes and negative emotions in young and middle-aged patients with stroke sequelae.</p> <p>Methods: A retrospective study was conducted on clinical data of 109 young patients with post-stroke sequelae in our hospital. Based on the nursing approach, the patients were divided into two groups. Group A received conventional continued care (including reinforcing health education upon discharge, providing relevant precautions after discharge, regular follow-up of patients, and others), while Group B received continued care based on the WeChat platform and multidisciplinary team (MDT) collaboration. A comparative analysis was performed on NHISS (National Institutes of Health Stroke Scale) scores, Barthel Index (activities of daily living), FMA (Fugl-Meyer Assessment of Motor Recovery after Stroke) scores, disease awareness and attitude scores, self- efficacy scores, self-care ability scores, SAS (Self-Rating Anxiety Scale) scores, SDS (Self-Rating Depression Scale) scores, quality of life scores, and social support levels before intervention and 6 months after interventions in both groups.</p> <p>Results: Compared with Group A, Group B had lower NHISS scores (30.08 vs. 17.08) and higher Barthel Index (73.35 vs. 94.48) and FMA scores (68.06 vs. 90.08) (P&lt;0.05); higher disease awareness scores (40.18±2.15 vs. 48.96±3.66) (P&lt;0.05), higher self-efficacy scores (105.56 vs. 119.26) and self-care scores (98.18 vs. 110.06) (P&lt;0.05), lower SAS scores (56.06 vs. 40.06) (P&lt;0.05), higher quality of life (125.63±3.12 vs. 185.12±2.52) as well as higher nursing satisfaction scores (56.63±3.16 vs. 92.15±3.15) (P&lt;0.05).</p> <p>Conclusions: Continuing care based on the WeChat platform and MDT is beneficial to promote the recovery of neurological and physical functions, improve abilities of daily living, self-efficacy, self- care and quality of life in young and middle-aged patients with stroke sequelae, and relieve the impact of negative emotions on the recovery.</p> Lili Ding Lili Wu Gaoyan Pian Qiong Wu Yanping Zhai Lanping Xue Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 329 339 10.54029/2024wyc Telerehabilitation-based training to improve balance confidence, falls efficacy, functional independence in individuals with stroke: a randomized controlled trial https://neurology-asia.org/system/index.php/neuro/article/view/2121 <p>Background: The aim of the study was to investigate the effectiveness of telerehabilitation-based balance and coordination exercises on balance confidence, fall efficacy, and functional independence in stroke patients.</p> <p>Methods: A double-blind, randomized controlled trial was conducted on 30 stroke patients (15 in the telerehabilitation-based group and 15 in the paper-based control group). The telerehabilitation group received video-based exercise training, while the control group received paper-based exercise training. Fear of falling (FES-I), balance (ABC), self-management (SSEQ) and satisfaction with telemedicine (TSQ) were evaluated before and six weeks after treatment.</p> <p>Results: The results of the present study showed that both telerehabilitation-based video training and paper- based exercise prescription methods were effective in terms of balance confidence, fall efficiency and stroke-specific functional independence (p&lt;0.05). Besides, telerehabilitation-based video training was more effective in balance confidence (p=0.042) and functional independence (0.018). In addition, the satisfaction of individuals in the telerehabilitation group with the telerehabilitation application was above average (59.73±8.15).</p> <p>Conclusion: Telerehabilitation-based video exercises in stroke patients may provide additional advantages in terms of balance confidence and fall efficiency. In addition, individuals with stroke were satisfied with the remote rehabilitation application.</p> Fatih Özden Mehmet Özkeskin Bennu Deniz Ezgin İsmet Tümtürk Bedriye Karaman Hadiye Şirin Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 341 349 10.54029/2024npu The effectiveness of telerehabilitation on independence, balance, disability and function in stroke patients: A meta-analysis of randomized controlled trials https://neurology-asia.org/system/index.php/neuro/article/view/2150 <p>Objective: To determine whether the use of telerehabilitation leads to improved independence, balance, and quality of life, reduces disability, and enhances the function to perform activities of daily living among stroke survivors compared with usual care.</p> <p>Methods: This is a meta-analysis of randomized controlled trials that have been conducted. Relevant published studies from inception to November 2022 were retrieved from Embase (Ovid), the Cochrane Central Register of Controlled Trials, PubMed, Web of Science, CINAHL, CBM, VIP, CNKI and Wanfang. The literature search and data extraction processes were conducted by two independent authors. The methodological quality of the included studies was assessed by the Cochrane Risk-of-Bias Assessment Tool, version 2. The data analysis was performed using Review Manager (Version 5.4).</p> <p>Results: Ten randomized controlled trials published between 2009 and 2022 were included in this meta-analysis. Most of the studies were assessed as having some concerns. The certainty of the evidence in this review varied across outcomes, ranging from low to high. The meta-analysis showed statistically significant effects of tele-rehabilitation on function (standardized mean difference (SMD)=1.05, 95% confidence interval (CI): 0.42 to 1.67, P = 0.44), balance((SMD)= 0.88, 95% CI: 0.25 to 1.51, P = 0.20). However, no statistically significant effect on disability, independence and quality of life were found in our review.</p> <p>Conclusions: Telerehabilitation may be effective for improving functional outcomes and balance among adult stroke patients, but the effect on disability, independence and quality of life is nonsignificant. More randomized controlled trials with larger sample sizes, more follow-up times, and rigorous study designs should be further conducted to identify the effect of Telerehabilitation on stroke patients.</p> rui wang Le Cao Yueyue He Ling Feng Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 351 363 10.54029/2024pnp Clinical features and surgical outcomes in temporal lobe epilepsy with amygdala enlargement - a single tertiary center study https://neurology-asia.org/system/index.php/neuro/article/view/2440 <p>Objective: To analyze and summarize clinical features and surgical outcomes in temporal lobe epilepsy with amygdala enlargement (TLE-AE) in a single tertiary center.</p> <p>Methods: Patients with TLE-AE admitted to the Neurological Disease Center of Peking University International Hospital from January 2016 to September 2022 were continuously collected. The clinical data of TLE-AE patients were retrospectively analyzed.</p> <p>Results: A total of 19 patients with TLE-AE were included. The average age at onset was (29.0 ± 14.5) years and all patients had focal impairment awareness seizure (FIAS). Ten (52.6%) patients were in line with drug-resistant epilepsy and 8 cases received surgical treatment. Focal temporal interictal epileptiform discharges on scalp electroencephalography were exclusively present ipsilateral to AE in 15 (78.9%) patients. Stereo-electroencephalography analysis found the ictal onset zone involved not only the enlarged amygdala but also the hippocampus in 2 patients. Two patients who responded well to antiseizure medication exhibited AE remission on follow-up MRI. Histopathology of the amygdala showed focal cortical dysplasia (FCD) in 7 patients and ganglioglioma in 1 patient. The 8 surgical patients were followed up for 13-79 months after operation. Six (75.0%) patients achieved Engel class Ia or I outcome, whereas 2 cases did not fully respond to the surgery (Engel class II).</p> <p>Conclusions: Patients with TLE-AE had a later age of seizure onset and FIAS was common. The epileptogenic zone in TLE-AE patients may be located in the enlarged amygdala and ipsilateral hippocampus. AE might be a secondary seizure-induced change in a subset of patients with favorable responses to drugs. As for drug-resistant patients, FCD may be the most common pathological change and surgical treatment could be taken into consideration.</p> Tuanfeng Yang Qing Xia Zongsheng Xu Hongchuan Niu Jia Lu Xianzeng Liu Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 365 374 10.54029/2024vxa Response to therapy in patients with chronic inflammatory demyelinating polyradiculoneuropathy: An observational study https://neurology-asia.org/system/index.php/neuro/article/view/2337 <p>Background &amp; Objective: The existing practice in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is to initiate therapy with steroids, intravenous immune globulin (IVIg), or plasma exchange (PLEX) followed by period of immunosuppression. The objective of this study is to assess disability outcomes at 6 months after starting therapy.</p> <p>Methods: Patients who were diagnosed as having CIDP from the Army Hospital of Research and Referral, Delhi; who were initiated and maintained on therapy by treating neurologists with a six month follow up were included in this study. They were retrospectively divided into three groups based on initial therapy received. The primary outcome was comparison of the Inflammatory Neuropathy Cause and Treatment (INCAT) group overall disability sum score (INCAT-ODSS) at 6 months. Secondary outcomes were difference in score at 1 and 3 months, proportion with at least 20% response at 3 and 6 months (“responders”) and proportion who needed “rescue” therapy during the 6 months.</p> <p>Results: Sixty patients (26 retrospective, 34 prospective) were included in this study. They were treated with IVIg (33), steroid (19) and PLEX (8). Baseline INCAT-ODSS score (±SD) was 7.2(2.2), 7.2(1.5) and 7.5(1.9) respectively. All received some form of oral immune suppression during follow up. Twenty one (35%) needed additional rescue therapy. There was an overall significant reduction in the mean INCAT-ODSS disability score from 7.2 to 3.1 (Mean difference 4.2; CI 3.6-4.8); p&lt;0.01). Nearly 88% of patients (51/58) showed at least 20% improvement from baseline. Two were lost to follow up (1 IVIg, 1 steroid). There was no difference in the ODSS at 6 months [2.9(2.4), 3.5(2.7) and 2.7(1.3)] respectively. No difference in ODSS at 1 and 3 months. Proportion of responders at 6 months and proportion who needed rescue therapy were also similar.</p> <p>Conclusion: Irrespective of initial therapy and maintenance oral immunosuppression used, the overall disability reduction in treatment with IVIg, steroid or PLEX is significant; however the three modalities are comparable in terms of disability reduction at 6 months. At least a third may need additional rescue therapy.</p> Salil Gupta Sindhu Singh Pawan Dhull Ravi Anadure Manoj Somashekharan Amit Sreen Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 375 380 10.54029/2024ivx Effectiveness of limited plasma exchange in Guillain-Barré syndrome https://neurology-asia.org/system/index.php/neuro/article/view/2353 <p>Objective: The aim of this study is to compare the efficacy of limited plasma exchange against supportive and standard treatments in treatment of Guillain-Barré syndrome (GBS).</p> <p>Method: A total of 90 GBS patients admitted to Yangon General Hospital, Yangon, Myanmar were recruited over 1.5-year-period from January 2017 to June 2018 and they were divided into 3 groups according to the treatment they received (convenience sampling method): supportive (n=36), limited plasma exchange (LPE) (n=35) and standard (therapeutic plasma exchange - TPE or IVIg) (n=19)). Their clinical features, electrophysiological subtypes and severity were compared at baseline, and outcome (change in GBS disability score (GDS) at 30 days after entry) was assessed and compared.</p> <p>Results: Baseline characteristics such as gender, GBS subtypes and respiratory involvement were comparable, but standard treatment group had older patients, and LPE group had shorter latency to nadir and more cases with antecedent diarrhea, which are poor outcome predictors. At 30 days from entry, mean GDS improvement was 0.9 + 0.6 in supportive, 1.4 + 0.6 in LPE and 1.2 + 0.8 in standard treatment groups respectively. The difference between LPE and supportive treatment was statistically significant (p 0.002) but there was no difference between LPE and standard treatment (p = 0.512). Regarding untoward effects, apart from one transient hypotension and 2 anemic cases, no other serious adverse effects were noted from LPE therapy.</p> <p>Conclusion: LPE may be superior to supportive treatment and may not be inferior to standard treatment. Therefore, LPE may be an alternative effective treatment for GBS patients who are not accessible to standard treatments especially in low income countries with limited resources.</p> Ohnmar Ohnmar Yan Lynn Aung Yin Minn Aye Seinn Mya Mya Aye Win Min Thit Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 381 384 10.54029/2024ejd Impacts of serum biomarkers regarding glucose, lipid and protein on progression and survival of amyotrophic lateral sclerosis: A Chinese cohort study https://neurology-asia.org/system/index.php/neuro/article/view/2438 <p>Objective: To explore the impacts of nutritional biomarkers regarding glucose, protein and lipid on amyotrophic lateral sclerosis (ALS) progression and survival in a cohort of Chinese ALS patients.</p> <p>Methods: A total of 191 ALS patients were included in our analysis. Pearson correlation was employed to analyze the relationships between baseline serological and clinical variables. Uni- and multivariate analysis were performed to analyze the influence of nutritional biomarkers on the progression and survival of ALS. A p-value of less than 0.05 was considered to be statistically significant.</p> <p>Results: Hyperglycemia (around 1/6) and hyperlipidemia (1/5-1/3) were common among ALS patients while protein deficiency was not predominant. Serum total cholesterol (TC) (p=0.026) and low-density lipoprotein cholesterol (LDL-C) (p=0.044) was negatively related to baseline ALS functional rating scale-revised (ALSFRS-R) score, while serum PA was positively associated with baseline ALSFRS-R score (p=0.018). Serum levels of TC (p=0.041), apoB (p&lt;0.001), lipoprotein a [Lp (a)] (p=0.002) and free fatty acids (FFA) (p=0.049) were negatively associated with baseline forced vital capacity percentage (FVC%). None of studied biomarkers showed significant relationship with ALS progression or survival time, except for serum level of Lp(a) had a weakly positive correlation to ALS progression rate after backward selection (p=0.048).</p> <p>Conclusion: Serum biomarkers of glucose, lipid or protein might only have a weak relationship with autonomous function and respiratory function status, but have no significant impact on the progression or overall survival of ALS. More studies were needed to provide guidance of nutritional management and diet recommendation for ALS patients.</p> Nan Hu Lei Zhang Dongchao Shen Xunzhe Yang Liying Cui Mingsheng Liu Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 385 396 10.54029/2024esc Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype https://neurology-asia.org/system/index.php/neuro/article/view/2338 <p>Guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) is a cytoplasmic enzyme that catalyzes the synthesis of GDP-mannose, a crucial substrate for several glycosylation pathways. Reports of pathogenic variants in the GMPPB gene are infrequent. As of April 2023, 109 cases with pathogenic variants in the GMPPB gene have been reported worldwide. Here, we present two siblings born of consanguineous parentage from Southern India. This is a retrospective study on genetically confirmed siblings with GMPPB pathogenic variants. The siblings, a 15-year-old girl, and a 13-year-old boy, presented with progressive limb-girdle weakness and cataracts from early childhood. The girl had exertion-induced breathlessness and mental subnormality. Creatine kinase levels were 5750 and 4320 IU/L. An echocardiogram of the heart revealed global hypokinesia, moderate left ventricular dysfunction, and mild mitral regurgitation with dilation of the left atrium and left ventricle in the girl child. Exome sequencing showed a homozygous pathogenic variant (NM_021971.4 (GMPPB): c.358A&gt;G (p.Met120Val) in Exon 4 of GMPPB gene in both the siblings. Thus, we report an unusual early onset LGMD phenotype of GMPPB-related disorder with cardiac involvement and cataracts from a single family.</p> Sai Bhargava Sanka Seena Vengalil Kiran Polavarapu Dipti Baskar Saraswati Nashi Aneesha Thomas Vijay Kumar Boddu Deepak Menon Hansashree Padmanabh Bhoomika M Rao Gautham Arunachal Atchayaram Nalini Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 397 403 10.54029/2024ifk Comparison of clinic and demographic characteristics in vestibular migraine and migraine only patients https://neurology-asia.org/system/index.php/neuro/article/view/2325 <p>Background &amp; Objective: The relationship between vertigo and migraine has been known for a long time. Many migraine patients are accompanied by vertigo. The term vestibular migraine (VM) is a clinical entity defined recently. Treatments for migraine only (MO) and VM patients differ partially. Therefore, it is essential to distinguish between these two clinical conditions. This study aims to reveal the clinical and demographic differences between MO and VM and determine the factors that will help diagnose and manage VM.</p> <p>Method: A total of 80 patients, 40 diagnosed with MO according to ICHD-3 and 40 diagnosed with VM, who applied to the Neurology clinic of a tertiary hospital between January and July 2023, were included in this prospective study. The patients’ ages, genders, education levels, medical and family history, migraine duration, migraine onset age, migraine attack frequency, and medication use were recorded. All patients completed a battery of questionnaires, including the Migraine Disability Assessment (MIDAS), Headache Impact Test (HIT-6), Visual Analog Scale (VAS), World Health Organization Quality of Life-Bref (WHOQOL-BREF), Dizziness Handicap Inventory (DHI), Activities-Specific Balance Confidence Scale (ABCS), and Beck Depression Inventory (BDI).</p> <p>Results: Patients with VM experienced significantly more sleep disturbances, depressive symptoms, movement disorders, imbalance, menstruation-related headaches, and aura compared to those with migraine MO. In contrast, MO patients reported more throbbing headaches and a better response to analgesics.</p> <p>Conclusion: MO and VM patients have distinct clinical characteristics. Recognizing these basic differences has important clinical benefits, allowing for precise diagnosis and treatment of VM.</p> Idris Kocaturk Fatma Atalay Sezai Sacid Anbar Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 405 411 10.54029/2024nus Effectiveness of manual therapy combined with dry needling in the treatment of cervicogenic headache: A systematic review and meta-analysis https://neurology-asia.org/system/index.php/neuro/article/view/2287 <p>Background &amp; Objective: Headache is a common symptom and disease. Cervicogenic headache (CH) is a common type of headache that can be effectively treated with both manual therapy (MT) and dry needling (DN). However, the results of MT plus DN (MDN) for CH remain controversial. We performed a meta-analysis to evaluate the efficacy of MDN for CH.</p> <p>Methods: A systematic search from database inception to June 1, 2023 on clinical outcome of MDN and MT in the treatment of CH was conducted. Four databases were searched, including Pubmed (Medline), Web of Science, Embase, and Cochrane Library related randomized controlled trials (RCTs). Main outcomes included numeric pain rating scale (NPRS) in the post-treatment, the first month and the third month, extension and flexion in the post-treatment, headache frequency in the first month and the third month, neck disability index (NDI) in the first month and the third month.</p> <p>Results: Three studies involving 263 patients out of 68 studies were conducted. The pooled data showed that there was significant differences in NPRS in the post-treatment, the first month and the third month, extension in the post-treatment, flexion in the post-treatment between MDN group and MT group, but there was no statistically significant difference in the headache frequency in the first month and the third month, NDI in the first month and the third month.</p> <p>Conclusion: Current evidence suggests that MDN may be superior to MT in improving NPRS, extension, and flexion.</p> bei li Ran Ma peng xia tingting zhang meidi yang jinbo He Yong Qin xiaoming Ning Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 413 420 10.54029/2024rif Lateral temporal atrophy is a better predictor of baseline MMSE scores than hippocampal atrophy in Alzheimer’s disease: A retrospective cross-sectional study https://neurology-asia.org/system/index.php/neuro/article/view/1497 <p>Background: Mini-Mental State Exam (MMSE) is widely used for the cognitive assessment in Alzheimer’s disease (AD), but its interpretation could be affected by acute medical conditions, depression, or anxiety. Conversely, brain magnetic resonance imaging (MRI) is an independent diagnostic tool to evaluate specific cerebral pathology. Many studies have investigated the correlation between MRI visual scales such as hippocampal atrophy and baseline MMSE in AD patients. However, the correlation between a comprehensive MRI visual scale and baseline MMSE in people with AD remains less well known.</p> <p>Method: We retrospectively collected records of outpatients diagnosed with probable AD according to DSM -5 criteria. The comprehensive visual rating scale (CVRS) was used to semiquantitatively measure structural changes and vascular lesions. The relationship between MRI changes and baseline MMSE was evaluated using Bayesian model averaging (BMA).</p> <p>Results: A total of 65 patients, among whom 21 (32.31%) had early-onset AD, were included. Lateral temporal atrophy, level of education, and late age at onset were the strongest independent predictors of baseline MMSE. Furthermore, hippocampal atrophy was only correlated with delayed recall, while temporal atrophy was correlated with orientation, attention, language, and visual-spatial items of the MMSE. The cerebral atrophy and small vessel lesions scores of the late-onset AD group were significantly higher than those of the early-onset group, despite negligible differences in education and MMSE.</p> <p>Conclusion: Our study suggests lateral temporal atrophy correlates with baseline MMSE scores in people with AD better than the hippocampal atrophy. Age-related atrophy and silent small vessel disease lesions may have negligible impact on AD patients’ cognitive impairment.</p> Vinh-Khang Nguyen Mai-Trang Tong The-Son Tran Thanh-Trung Pham Truc T.T. Nguyen Cong-Thang Tran Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 421 429 10.54029/2024zmw A systematic review on the effect of light therapy in sundowning behavior of patients with dementia https://neurology-asia.org/system/index.php/neuro/article/view/1620 <p>Dementia is a cognitive disorder that affects daily living of the individual. According to DSM V criteria, it is defined as the evidence of significant cognitive decline from a previous level of performance in one or more cognitive domains which interferes in everyday activity with no other structural, metabolic or psychiatric cause. However, during the course of dementia, 90% of patients suffer from behavioral and psychological symptoms of dementia (BPSD). The sundowning or nocturnal delirium is a form of BPSD which can affect patients with dementia particularly those of advanced stage. Presently, there are no established guidelines for the management of symptoms of sundowning in patients with dementia and efficacy of pharmacologic and nonpharmacologic treatments are not yet established. One of the nonpharmacologic treatment is bright light therapy. We performed a systemic review of published literature on the effects of bright light therapy on sundowning in patients with dementia. We found only two randomized controlled trials utilizing the standard 10,000 lux lamp among dementia patients. Based on the two studies, bright light therapy had no significant beneficial effect on the sundowning behavior.</p> Lovelle Ditucalan Melmar C Folloso Steven G Villaraza Joseree Ann S Catindig Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 431 434 10.54029/2024mdj Impact of ‘web-based mindfulness based stress reduction combined with solution-focused intervention on dementia caregivers’ negative affect https://neurology-asia.org/system/index.php/neuro/article/view/2282 <p>Objective: This study aims to explore the effects of web-based mindfulness-based stress reduction (MBSR) combined with focused solution mode on alleviating negative emotions in dementia caregivers.</p> <p>Methods: Sixty dementia caregivers were randomly assigned to either a control group receiving conventional guidance or an intervention group receiving MBSR combined with focused solution mode in addition to conventional guidance. The intervention lasted for 8 weeks. Changes in depression-anxiety-stress scale 21 (DASS-21) and Zarit caregiver burden inventory (ZBI) scores were compared between the two groups before and after the intervention.</p> <p>Results: After 8 weeks of intervention, caregivers in the intervention group showed significant decreases in depression, anxiety, stress, and total DASS-21 scores as well as total ZBI score (P&lt;0.001), all of which were lower than those of the control group (P&lt;0.001).</p> <p>Conclusion: MBSR combined with focused solution mode can effectively improve negative emotions and reduce burden levels in dementia caregivers, and is worth promoting and applying in clinical settings.</p> Min Hu Ze-Yu Liu Juan Xiong Yan Lin Qiu-Yan Wang Ling Luo Dan Wang Ping Tu Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 435 443 10.54029/2024fpi Idiopathic hypertrophic pachymeningitis: Features of 9 patients and a literature review https://neurology-asia.org/system/index.php/neuro/article/view/660 <p>Introduction: Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder presenting with headache, cranial and spinal neuropathy. This study is to explore the clinical, laboratory and imaging changes; treatment; and clinical outcomes of idiopathic hypertrophic pachymeningitis (IHP).</p> <p>Methods: This was a retrospective evaluation of 9 patients (5 men and 4 women; mean age: 53.6 years), their clinical features, laboratory tests, cerebral spinal fluid (CSF) analysis, MRI results, pathological features, treatment and clinical outcomes from a tertiary centre in Qingdao, North East China. The serum IgG4 was negative for all the cases.</p> <p>Results: Headache was the most common symptom (7/9), followed by oculomotor, trigeminal, abducens and facial nerve neuropathies, and limb numbness in one case. Two cases showed increased ESR and CRP, and four were positive for ANA or anti-SSA antibodies. On CSF analysis, 2/7 had increased pressure, and 4/7 showed lymphocytosis and high protein levels. MRI revealed a thickening and enhancement of the dura, mainly involving bilateral tentorium (85%), falx cerebri (57%), and cerebellar hemisphere (57%). The tissue biopsy of dura mater in three cases showed thickened collagen fibers, lymphocytosis and focal necrosis, with similar but not identical features to IgG4-related sclerosing disease. Most patients were treated with corticosteroids, and 79% showed improvement. The abnormal thickness and enhancement of the dura mater disappeared in one case.</p> <p>Conclusion: Gadolinium-enhanced MRI serves as the key preliminary investigation for the diagnosis and evaluation of the clinical course for IHP. Majority of patients have good respond to steroid.</p> Liwei Jiang Xi Rong Lili Wang Meijie Qu Zongchao Liu Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 445 451 10.54029/2024cdc The relationship among the functional levels, dyskinetic movements and participation in children with dyskinetic cerebral palsy https://neurology-asia.org/system/index.php/neuro/article/view/1768 <p>Background &amp; Objective: This study aimed to investigate the relationship between the Gross Motor Function Classification System (GMFCS), the Manual Ability Classification System (MACS), the Eating and Drinking Ability Classification System (EDACS), the Communication Function Classification System (CFCS), dyskinetic movements and participation levels in children with dyskinetic cerebral palsy (DCP) to attain a comprehensive functional profile of DCP.</p> <p>Methods: Forty children with DCP aged between 5-18 years were included. Functional classification systems: GMFCS, MACS, CFCS, EDACS levels investigated. The Dyskinesia Impairment Scale (DIS) was used for evaluate dyskinetic movements: dystonia and choreoathetosis. Assessment of Life-Habits-Questionnaire (LIFE-H) was used for evaluate participation. Spearman’s correlation test was used to evaluate the relationship among functional classification levels, DIS subscales and LIFE-H subdomains. Multivariate simple linear regression, backward model was used to explain relations between LIFE-H subdomains, DIS subscales, GMFCS, MACS, EDACS and CFCS.</p> <p>Results: The mean age was 12.88±4.57 years. Correlations were found between GMFCS-MACS, GMFCS-EDACS, MACS-EDACS, CFCS-MACS, GMFCS-CFCS and EDACS-CFCS (p&lt;0.05); between GMFCS and dystonia upper extremity, dystonia lower extremity total score, dystonia total score (p&lt;0.05); between MACS and dystonia upper extremity, dystonia lower extremity total score, dystonia total score, and dystonia mouth total score (p&lt;0.05). LIFE-H Social-Roles Total Score, Daily-Living-Activities Total Score, LIFE-H-Total-Score were correlated with GMFCS, MACS, EDACS and CFCS (p&lt;0.05). The results of regression analysis showed GMFCS and MACS levels are strong predictors of participations (p&lt;0.05).</p> <p>Conclusions: To plan participatory intervention programs, it is important to understand the levels of participation and differences among children with DCP subtypes according to the ICF framework.</p> Eda Burç Cemil Ozal Mintaze Kerem Gunel Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 453 464 10.54029/2024kmn A preliminary study evaluating the response to greater occipital nerve (GON) blockage therapy in patients with vestibular migraine https://neurology-asia.org/system/index.php/neuro/article/view/2527 <p>We herein report the efficacy of greater occipital nerve (GON) blockage on headache and vertigo in patients with vestibular migraine (VM). VM is a clinical condition characterized by vestibular attacks associated with migrainous features. For the diagnosis, five episodes with vestibular symptoms of moderate or severe intensity, lasting 5 minutes to 72 hours are needed in an individual with a current or previous history of migraine.2 In addition, half of the vestibular symptoms require accompaniment of one or more migraine features, including migraine-like headache or photophobia, phonophobia, or visual aura. It has a prevalence of 2.7% in adults and is 1.5 to 5 times more common in women. GON blockage has been shown to be effective4 and superior to placebo5 in chronic migraine. Independently of medical treatment, GON blockage reduces the frequency, duration, and intensity of headache attacks, analgesic use, and improves patients’ quality of life.</p> Ayşın Kısabay AK AYSEGUL SEYMA SARITAS YAGMUR INALKAC GEMICI EYLÜL CEREN CAG NESE CELEBISOY Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 511 512 10.54029/2024ihr Focal haemorrhage as atypical feature on MRI in progressive multifocal leukoencephalopathy https://neurology-asia.org/system/index.php/neuro/article/view/2419 <p>Progressive multifocal leukoencephalopathy (PML) is a severe progressive demyelinating disorder caused by the suppression of cell-mediated immunity and is diagnosed by typical imaging features on MRI and confirmed by the identification of the JC virus on CSF. We present a case of HIV positive adult male who presented with progressive hemiparesis and spastic dysarthria over 3 months duration, and MRI showed white matter T2 hyper, T1 isointense and peripherally diffusion restricting lesion in the right frontoparietal region with an additional focal haemorrhage within the lesion, which misled us away from considering PML. However, repeat imaging showed progression of the lesion and CSF analysis showed John Cunningham (JC) virus, confirming the diagnosis.</p> Lakshmi Priya Mahendra Javali Purushottam Acharya Pradeep Rangaiah Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 507 509 10.54029/2024irw Adult-onset mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A case report and review of its conventional and diffusion- weighted MRI features https://neurology-asia.org/system/index.php/neuro/article/view/2177 <p>Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial neurodegenerative disorder characterized by stroke-like episodes, seizure, and lactic acidosis. The diagnosis of MELAS is often challenging due to its variable phenotypic manifestations and rarity of this disease. In this article, we report the case of a 38-year-old woman who presented with repeated seizures and clinical stroke-like symptoms. She had no positive family history, and lactic acidosis was only present in her initial episode. Magnetic resonance imaging (MRI) of the brain was also normal in her first presentation. However, subsequent scans due to new clinical events showed migratory stroke-like lesions that were hyperintense on T2/fluid attenuated inversion recovery (FLAIR) sequence and had restricted diffusion. They did not conform to vascular territories but had a predilection for posterior temporal, occipital and parietal regions. The radiological findings prompted the suspicion of MELAS, which diagnosis was confirmed with genetic testing. Here, we also reviewed the MRI features of MELAS from literature, in particular the diffusion-weighted sequence findings, as debate still exists on whether the apparent diffusion coefficient (ADC) signal should be high or low in these lesions. Our case highlights the importance of recognizing key imaging features of this rare and highly heterogenous disease. In addition to helping with earlier diagnosis, these imaging findings also provide more insight into the underlying pathophysiology of MELAS.</p> Pui Hung Ho Richard Li Chi Yeung Chu Kendrick Yip Kan Tang Chun Kit Li Man Kwan Yip Wing Tat Poon Stephen Wing Ho Cheng M Auyeung CM Cheung Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 465 470 10.54029/2024dru An unusual case of remitting and relapsing intraspinal epidural hamartoma with hemorrhage https://neurology-asia.org/system/index.php/neuro/article/view/2548 <p>Spinal epidural hematoma is a rare disease and is most commonly idiopathic. Other common causes are vascular malformations, coagulopathy, hypertension, surgery, and trauma. Epidural vascular hamartoma associated with hemorrhage is a less known entity. We report an unusual case of epidural vascular hamartoma associated with hemorrhage resulting in back pain and neurological deficits. A distinctive feature of this case was waxing and waning signs and symptoms with evidence of radiological resolution of the lesion in the phase of remission.</p> Shalini Sharma Rana Patir Sunita Ahlawat Rakesh K Gupta Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 471 475 10.54029/2024jpr The therapeutic effect of vagus nerve stimulation on super-refractory nonconvulsive status epilepticus https://neurology-asia.org/system/index.php/neuro/article/view/2429 <p>Super refractory status epilepticus (SRSE) is a condition in which status epilepticus persists despite 48 hours of anesthetic treatment. Nonconvulsive status epilepticus (NCSE) is characterized by seizures lasting more than 30 min on an electroencephalogram, with accompanying changes in behavior or consciousness without convulsions. Prompt treatment of NCSE is crucial, as delayed treatment may lead to additional brain damage and progression to convulsive status epilepticus. Although vagus nerve stimulation (VNS) has been approved as an adjunct treatment for drug-resistant epilepsy, it is rarely used to treat refractory status epilepticus. To the best of our knowledge, only two cases of NCSE treated with VNS have been reported to date, and these patients were successfully treated with VNS for NCSE caused by anti-NMDAR encephalitis. We report the case of a patient with posttraumatic epilepsy who developed super refractory-NCSE after convulsive status epilepticus and was successfully treated with VNS.</p> Bora Chung Chan Hyun Lee Eunji Kim Minjun Kim Minjung Kim Oh-Young Kwon Do-Hyung Kim Tae-Won Yang Jongsoo Kang Young Soo Kim Hyun Park Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 477 481 10.54029/2024wpt A treatable case of hereditary transthyretin amyloidosis with polyneuropathy masquerading as motor neuron disease https://neurology-asia.org/system/index.php/neuro/article/view/2395 <p>Hereditary transthyretin amyloidosis is a progressive, life-threatening disease that typically presents as length-dependent symmetric axonal sensorimotor polyneuropathy, restrictive cardiomyopathy, or a combination of both. In this case report, we describe a 50-year-old gentleman with a rare motor phenotypic variant of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) masquerading as motor neuron disease. This case represents the first reported association between the motor phenotypic variants of hATTR-PN and mutations involving p.Ala117Ser, a mutation prevalent in the Chinese population.</p> hua chan ling chiew sern Ong Kaavya Narasimhalu James Xinzhe Cai You Jiang Tan Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 483 487 10.54029/2024ptd Ocrelizumab experience in treatment-resistant warts associated with Fingolimod: A case report https://neurology-asia.org/system/index.php/neuro/article/view/2577 <p>Fingolimod is a sphingosine 1-phosphate (S1P) analogue that has antagonistic effects on S1P receptors. It creates an immunosuppressive effect by decreasing the number of circulating lymphocytes by preventing the exit of lymphocytes from lymphoid tissues. The causal link between fingolimod treatment and warts has not yet been proven. Herein, we report a case of relapsing–remitting multiple sclerosis in which multiple warts developed on the right hand over the years after the initiation of fingolimod treatment and disappeared completely after discontinuation of treatment.</p> <p>Conclusions: The temporal relationship between discontinuation of treatment and healing of lesions, as in our case, supports a possible causal role of fingolimod and new warts did not form while receiving ocrelizumab treatment.</p> Ali Ulvi Uca Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 489 491 10.54029/2024kps Uncommon presentation of orbital myositis following herpes zoster ophthalmicus https://neurology-asia.org/system/index.php/neuro/article/view/2356 <p>Herpes zoster ophthalmicus (HZO) is a manifestation of the reactivation of the varicella zoster virus, characterised by vesicular rash along the ophthalmic division of the trigeminal nerve. A rare but significant complication of HZO is orbital myositis, marked by painful swelling of extraocular muscles and periorbital tissues. We present the case of a 72-year-old woman initially presenting with ophthalmological symptoms, notably conjunctival congestion and superficial punctate keratitis, preceding the typical vesicular rash of herpes zoster. The subsequent development of diplopia led to the detection of lateral rectus palsy. Neuroimaging revealed orbital myositis, with the patient showing marked improvement following treatment with oral steroids. This case emphasize the importance of recognizing orbital myositis as a complication of HZO.</p> Neena Baby Sachin Ajith Priyadarshini Malini Rekha George Jayasree Chandrasekharan Minu George Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 493 496 10.54029/2024wkp A novel CSF1R missense mutation in a Chinese family with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report https://neurology-asia.org/system/index.php/neuro/article/view/1484 <p>Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant disorder caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We report a case of a 41-year-old man with rapid decline in cognition within 7 months of onset. Magnetic resonance imaging showed periventricular confluent white matter changes and atrophy of the corpus callosum. Clinical exome sequencing showed a mutation (c.2390T&gt;G) in exon 18 of the CSF1R gene. In conclusion, the differential diagnosis of adult-onset leukodystrophy is extensive. Neuroimaging and genetic analysis greatly aid in the differential diagnosis of leukoencephalopathy.</p> Hongyang Liu Daowen Chen Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 497 499 10.54029/2024mfh Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis https://neurology-asia.org/system/index.php/neuro/article/view/2443 <p>Joubert syndrome (JS), a rare neurodevelopmental disorder, is characterized by a unique midbrain- hindbrain malformation known as the molar tooth sign, a distinctive radiological feature. Among the myriad manifestations associated with JS, the most prevalent features encompass hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been identified as contributors to the development of JS. This study aimed to pinpoint a pathogenic variant in JS within an Iranian consanguineous pedigree. We employed whole-exome sequencing (WES) to pinpoint a potential pathogenic variant likely responsible for the condition in an 8-year-old male patient. The WES analysis successfully revealed a novel homozygous missense mutation (c.725A&gt;T; p.Asn242Ile) within exon 8 (NM_153704.6) of the TMEM67 gene. Subsequent validation through Sanger sequencing confirmed the presence of the chr8-93780603A&gt;T mutation. This study elucidated JS within an Iranian family, uncovering a new TMEM67 gene mutation through comprehensive genetic analysis. The identification of this mutation enhances our understanding of the genetic landscape of JS, contributing valuable insights for both clinical diagnosis and future research endeavors.</p> Mostafa Neissi Misagh Mohammadi-Asl Mojdeh Roghani Adnan Issa Al-Badran Motahareh Sheikh-Hosseini Javad Mohammadi-Asl Copyright (c) 2024 Neurology Asia 2024-06-30 2024-06-30 29 2 501 506 10.54029/2024wir