We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation.
- Authors
Shen-Yang Lim; Ahmad-Annuar, Azlina; Lohmann, Katja; Ai Huey Tan; Yi Wen Tay; Jia Lun Lim; Kai Bin Lim; Lei Cheng Lit; Bauer, Peter; Rolfs, Arndt; Klein, Christine
- 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.
- Subjects
PARKINSON'S disease; PHENOTYPES; DEEP brain stimulation; ORAL medication; BRAIN surgery; DYSKINESIAS
- Publication
Neurology Asia, 2021, Vol 26, Issue 1, p161
- ISSN
1823-6138
- Publication type
Article