Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

Neuroreport. 1999 Feb 5;10(2):427-9. doi: 10.1097/00001756-199902050-00040.


A coding substitution (I93M) in the ubiquitin carboxy-terminal L1 (UCH-L1) gene has recently been identified in a German family with Parkinson's disease. We have sequenced the entire coding region of the gene in 11 families who have a pattern of disease consistent with autosomal dominant inheritance. We found a polymorphism (S18Y) in exon 3, two polymorphisms in the 5' non-coding region, upstream of the transcription start, and an insertion/deletion polymorphism in intron 4. The S18Y allele is present on approximately 20% of chromosomes in a Caucasian population. These changes are, therefore, unlikely to be pathogenic. We conclude that the I93M variant must either be a rare cause of disease or a harmless substitution whose occurrence in the family reflects a chance co-occurrence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Middle Aged
  • Mutation / physiology*
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics
  • Reference Values
  • Thiolester Hydrolases / genetics*
  • Ubiquitin Thiolesterase


  • Thiolester Hydrolases
  • Ubiquitin Thiolesterase