Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

J. Zhang; N. Hattori; N. Giladi; Y. Mizuno

doi:10.1016/S1353-8020(00)00022-5

Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

J. Zhang, N. Hattori^*, N. Giladi, Y. Mizuno

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

Recently, a missense mutation (Ile93Met) of exon 4 in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene was identified in a German family with autosomal dominant Parkinson's disease (ADPD). To determine whether this mutation is responsible for familial Parkinson's disease (PD), we sequenced the entire coding region of UCH-L1 gene in nine families with ADPD. No mutations in this gene were found in any of the families studied. We conclude that the Ile93Met mutation in UCH-L1 gene is a very rare cause of familial PD. Copyright (C) 2000 Elsevier Science Ltd.

Original language	English
Pages (from-to)	199-200
Number of pages	2
Journal	Parkinsonism and Related Disorders
Volume	6
Issue number	4
DOIs	https://doi.org/10.1016/S1353-8020(00)00022-5
State	Published - Oct 2000
Externally published	Yes

Keywords

Autosomal dominant Parkinson's disease
Genetics
Parkinson's disease
Ubiquitin carboxy-terminal hydrolase L1

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10.1016/S1353-8020(00)00022-5

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title = "Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease",

abstract = "Recently, a missense mutation (Ile93Met) of exon 4 in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene was identified in a German family with autosomal dominant Parkinson's disease (ADPD). To determine whether this mutation is responsible for familial Parkinson's disease (PD), we sequenced the entire coding region of UCH-L1 gene in nine families with ADPD. No mutations in this gene were found in any of the families studied. We conclude that the Ile93Met mutation in UCH-L1 gene is a very rare cause of familial PD. Copyright (C) 2000 Elsevier Science Ltd.",

keywords = "Autosomal dominant Parkinson's disease, Genetics, Parkinson's disease, Ubiquitin carboxy-terminal hydrolase L1",

author = "J. Zhang and N. Hattori and N. Giladi and Y. Mizuno",

note = "Funding Information: This study was in part supported by a Grant-in-Aid for Scientific Research on Neurodegenerative Disorders from the Ministry of Health and Welfare, Japan, a Grant-in-Aid for Scientific Research from the Ministry of Education, Science, and Culture, Japan, and a “Center of Excellence” Grant from the National Parkinson Foundation, Miami, FL.",

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AU - Giladi, N.

AU - Mizuno, Y.

N1 - Funding Information: This study was in part supported by a Grant-in-Aid for Scientific Research on Neurodegenerative Disorders from the Ministry of Health and Welfare, Japan, a Grant-in-Aid for Scientific Research from the Ministry of Education, Science, and Culture, Japan, and a “Center of Excellence” Grant from the National Parkinson Foundation, Miami, FL.

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N2 - Recently, a missense mutation (Ile93Met) of exon 4 in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene was identified in a German family with autosomal dominant Parkinson's disease (ADPD). To determine whether this mutation is responsible for familial Parkinson's disease (PD), we sequenced the entire coding region of UCH-L1 gene in nine families with ADPD. No mutations in this gene were found in any of the families studied. We conclude that the Ile93Met mutation in UCH-L1 gene is a very rare cause of familial PD. Copyright (C) 2000 Elsevier Science Ltd.

AB - Recently, a missense mutation (Ile93Met) of exon 4 in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene was identified in a German family with autosomal dominant Parkinson's disease (ADPD). To determine whether this mutation is responsible for familial Parkinson's disease (PD), we sequenced the entire coding region of UCH-L1 gene in nine families with ADPD. No mutations in this gene were found in any of the families studied. We conclude that the Ile93Met mutation in UCH-L1 gene is a very rare cause of familial PD. Copyright (C) 2000 Elsevier Science Ltd.

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Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

Abstract

Keywords

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