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

@article{Lincoln1999LowFO,
  title={Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.},
  author={Sarah J. Lincoln and Jenny Vaughan and Nick W. Wood and Matt Dane Baker and Jennifer Adamson and Katharina Gwinn-Hardy and Timothy Lynch and John S. Hardy and Matt Farrer},
  journal={Neuroreport},
  year={1999},
  volume={10 2},
  pages={427-9}
}
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… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 45 extracted citations

Similar Papers

Loading similar papers…