Lim, Shen-Yang and Ahmad-Annuar, Azlina and Lohmann, Katja and Tan, Ai Huey and Tay, Yi Wen and Lim, Jia Lun and Lim, Kai Bin and Lit, Lei Cheng and Bauer, Peter and Rolfs, Arndt and Klein, Christine (2021) Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation. Neurology Asia, 26 (1). pp. 161-166. ISSN 1823-6138,
Full text not available from this repository.Abstract
We describe the clinical features of a Malaysian woman with Parkinson's disease ( PD) who carried the PRKN p.Cys441Arg mutation in the homozygous state. She had a fairly ``classic'' clinical presentation for PARK-Parkin, including juvenile onset and a clear response to dopaminergic medication complicated by motor fluctuations and dyskinesias. She had a substantial benefit with apomorphine infusion treatment, which to our knowledge has not been reported for PARK-Parkin. Our report contributes to the very scarce literature on monogenic causes of PD in the Malaysian population, and highlights an alternative treatment option to oral dopaminergic medication or deep brain stimulation surgery.
| Item Type: | Article |
|---|---|
| Funders: | UNSPECIFIED |
| Uncontrolled Keywords: | Parkinson's disease;Parkin;Genetics;Asian;Apomorphine; Pregnancy |
| Subjects: | R Medicine |
| Divisions: | Faculty of Medicine |
| Depositing User: | Ms Zaharah Ramly |
| Date Deposited: | 14 Jun 2022 07:03 |
| Last Modified: | 14 Jun 2022 07:03 |
| URI: | http://eprints.um.edu.my/id/eprint/34445 |
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