Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation

Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation

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 me...

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Bibliographic Details
Main Authors: Lim, Shen-Yang, Ahmad-Annuar, Azlina, Lohmann, Katja, Tan, Ai Huey, Tay, Yi Wen, Lim, Jia Lun, Lim, Kai Bin, Lit, Lei Cheng, Bauer, Peter, Rolfs, Arndt, Klein, Christine
Format: Article
Published: ASEAN Neurological Association 2021
Subjects:
R Medicine
Online Access:http://eprints.um.edu.my/34445/
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Institution: Universiti Malaya
Description
Summary: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.

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