Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients

Philip Wintermeyer, Rejko Krüger*, Wilfried Kuhn, Thomas Müller, Dirk Woitalla, Daniela Berg, Georg Becker, Elisabeth Leroy, Mihael Polymeropoulos, Klaus Berger, Horst Przuntek, Ludger Schöls, Jörg T. Epplen, Olaf Riess

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

130 Citations (Scopus)


Recently, an Ile93Met substitution has been identified in the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene in a single German PD family with autosomal dominant inheritance. To determine whether mutations in the UCHL1 gene are causative for Parkinson's disease (PD) a detailed mutation analysis was performed in a large sample of German sporadic and familial PD patients. We found no disease-causing mutation in the coding region of the UCHL1 gene. Direct sequencing revealed six intronic polymorphisms in the UCHL1 gene. Analysis of an S18Y polymorphism in exon 3 of the UCHL1 gene in sporadic PD patients and controls showed carriers of allele 2 (tyrosine) significantly less frequent in patients with a reduced risk of 0.57 (CI = 0.36-0.88; p = 0.012, Pc = 0.047, χ2 = 6.31). Our study shows that sequence variations in the coding region of UCHL1 are a rare event. A protective effect of a certain UCHLI variant in the pathogenesis of sporadic PD is suggested, underlining the relevance of UCHL1 in neurodegeneration. (C) 2000 Lippincott Williams and Wilkins.

Original languageEnglish
Pages (from-to)2079-2082
Number of pages4
Issue number10
Publication statusPublished - 14 Jul 2000
Externally publishedYes


  • Autosomal dominant
  • Parkinson's disease
  • Population studies
  • UCHL1


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