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

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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)199-200
Number of pages2
JournalParkinsonism and Related Disorders
Volume6
Issue number4
DOIs
StatePublished - Oct 2000
Externally publishedYes

Keywords

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

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