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.
|Number of pages||2|
|Journal||Parkinsonism and Related Disorders|
|State||Published - Oct 2000|
- Autosomal dominant Parkinson's disease
- Parkinson's disease
- Ubiquitin carboxy-terminal hydrolase L1