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

Shen Yang Lim; Azlina Ahmad-Annuar; Katja Lohmann; Ai Huey Tan; Yi Wen Tay; Jia Lun Lim; Kai Bin Lim; Lei Cheng Lit; Peter Bauer; Arndt Rolfs; Christine Klein

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

Shen Yang Lim^*, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Yi Wen Tay, Jia Lun Lim, Kai Bin Lim, Lei Cheng Lit, Peter Bauer, Arndt Rolfs, Christine Klein

^*Corresponding author for this work

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.

Original language	English
Journal	Neurology Asia
Volume	26
Issue number	1
Pages (from-to)	161-166
Number of pages	6
ISSN	1823-6138
Publication status	Published - 2021

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title = "Clinical phenotype of Parkinson{\textquoteright}s disease with a homozygous PRKN p.Cys441Arg mutation",

abstract = "We describe the clinical features of a Malaysian woman with Parkinson{\textquoteright}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.",

author = "Lim, {Shen Yang} and Azlina Ahmad-Annuar and Katja Lohmann and Tan, {Ai Huey} and Tay, {Yi Wen} and Lim, {Jia Lun} and Lim, {Kai Bin} and Lit, {Lei Cheng} and Peter Bauer and Arndt Rolfs and Christine Klein",

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T1 - Clinical phenotype of Parkinson’s disease with a homozygous PRKN p.Cys441Arg mutation

AU - Lim, Shen Yang

AU - Ahmad-Annuar, Azlina

AU - Lohmann, Katja

AU - Tan, Ai Huey

AU - Tay, Yi Wen

AU - Lim, Jia Lun

AU - Lim, Kai Bin

AU - Lit, Lei Cheng

AU - Bauer, Peter

AU - Rolfs, Arndt

AU - Klein, Christine

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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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M3 - Journal articles

AN - SCOPUS:85104038342

SN - 1823-6138

VL - 26

SP - 161

EP - 166

JO - Neurology Asia

JF - Neurology Asia

IS - 1

ER -

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

Abstract

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