Wong, Siaw Cheng and Tan, Zhun Foo and Tay, Yi-Wen and Law, Wan Chung and Ahmad Annuar, Azlina and Tan, Ai Huey and Lim, Shen-Yang (2022) Rare homozygous PRKN exon 7 duplication in a Ibanese patient from Northwestern Borneo with young onset Parkinson's disease. Neurology Asia, 27 (2). pp. 515-520. ISSN 1823-6138, DOI https://doi.org/10.54029/2022frs.
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| 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) |
| Uncontrolled Keywords: | Parkinson's disease; Genetics; Monogenic; Parkin; PRKN; Asia; Indigenous |
| Subjects: | R Medicine > R Medicine (General) > Medical technology |
| Divisions: | Faculty of Medicine Faculty of Medicine > Biomedical Science Department Faculty of Medicine > Medicine Department |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 26 Oct 2023 06:47 |
| Last Modified: | 26 Oct 2023 06:47 |
| URI: | http://eprints.um.edu.my/id/eprint/41712 |
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