Lincoln, S; Vaughan, J; Wood, N; Baker, M; Adamson, J; Gwinn-Hardy, K; ... Farrer, M; + view all Lincoln, S; Vaughan, J; Wood, N; Baker, M; Adamson, J; Gwinn-Hardy, K; Lynch, T; Hardy, J; Farrer, M; - view fewer (1999) Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinson's disease. NEUROREPORT , 10 (2) 427 - 429.
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A coding substitution (I93M) in the ubiquitin carboxyterminal 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 similar to 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. (C) 1999 Lippincott Williams & Wilkins.
|Title:||Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinson's disease|
|Keywords:||genetics, Parkinson's disease, ubiquitin carboxy-terminal hydrolase L1|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
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