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

• 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/
• Institution: Universiti Malaya

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...