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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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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
score 13.160551

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