Rare homozygous PRKN exon 7 duplication in a Ibanese patient from Northwestern Borneo with young onset Parkinson’s disease

Authors

  • Siaw Cheng Wong Neurology Unit, Department of Internal Medicine, Sarawak General Hospital, Ministry of Health, Malaysia
  • Zhun Foo Tan
  • Yi-Wen Tay 3Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • Wan Chung Law Neurology Unit, Department of Internal Medicine, Sarawak General Hospital, Ministry of Health, Malaysia
  • Azlina Ahmad-Annuar Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • Ai Huey Tan The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson’s & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Shen-Yang Lim The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson’s & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

DOI:

https://doi.org/10.54029/2022frs

Keywords:

Parkinsons's Disease, Genetics, Monogenic, Parkin, PRKN, Asia, Indigenous

Abstract

We describe the clinical features of a Sarawakian man of Ibanese ethnicity with young-onset Parkinson’s disease (PD), who carried a very rare homozygous PRKN exon 7 duplication. Truncal dystonia was a prominent feature on presentation, in addition to classical parkinsonian motor features. This report adds to the very limited literature on monogenic causes of PD in Southeast Asia and specifically the indigenous group in the Borneo region.

Published

2022-07-04

Issue

Vol. 27 No. 2 (2022)

Section

Case Report