Rare homozygous PRKN exon 7 duplication in a Ibanese patient from Northwestern Borneo with young onset Parkinson's disease
Document Type
Article
Publication Date
6-1-2022
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.
Keywords
Parkinson's disease, Genetics, Monogenic, Parkin, PRKN, Asia, Indigenous
Divisions
fac_med,biomedsc,medicinedept
Funders
Ministry of Education, Malaysia (Grant No : FRGS/1/2020/SKK0/UM/01/2),University of Malaya Parkinson's Disease and Movement Disorders Research Program (Grant No: PV035-2017)
Publication Title
Neurology Asia
Volume
27
Issue
2
Publisher
ASEAN Neurological Association
Publisher Location
UNIV MALAYA MEDICAL CENTRE, NEUROLOGY LABORATORY, KUALA LUMPUR, 59100, MALAYSIA