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 language | English |
---|---|
Pages (from-to) | 199-200 |
Number of pages | 2 |
Journal | Parkinsonism and Related Disorders |
Volume | 6 |
Issue number | 4 |
DOIs | |
State | Published - Oct 2000 |
Externally published | Yes |
Keywords
- Autosomal dominant Parkinson's disease
- Genetics
- Parkinson's disease
- Ubiquitin carboxy-terminal hydrolase L1