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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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

id	my.um.eprints.34445
record_format	eprints
spelling	my.um.eprints.344452022-06-14T07:03:29Z http://eprints.um.edu.my/34445/ Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation 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 R Medicine 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. ASEAN Neurological Association 2021-03 Article PeerReviewed 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,
institution	Universiti Malaya
building	UM Library
collection	Institutional Repository
continent	Asia
country	Malaysia
content_provider	Universiti Malaya
content_source	UM Research Repository
url_provider	http://eprints.um.edu.my/
topic	R Medicine
spellingShingle	R Medicine 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 Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation
description	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.
format	Article
author	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
author_facet	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
author_sort	Lim, Shen-Yang
title	Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation
title_short	Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation
title_full	Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation
title_fullStr	Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation
title_full_unstemmed	Clinical phenotype of Parkinson's disease with a homozygous PRKN p.Cys441Arg mutation
title_sort	clinical phenotype of parkinson's disease with a homozygous prkn p.cys441arg mutation
publisher	ASEAN Neurological Association
publishDate	2021
url	http://eprints.um.edu.my/34445/
_version_	1736834293546614784

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

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