Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

J Zhang; N Hattori; N Giladi; Y Mizuno

doi:10.1016/s1353-8020(00)00022-5

Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

Parkinsonism Relat Disord. 2000 Oct 1;6(4):199-200. doi: 10.1016/s1353-8020(00)00022-5.

Authors

J Zhang¹, N Hattori, N Giladi, Y Mizuno

Affiliation

¹ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, 113-0033, Tokyo, Japan

PMID: 10900393
DOI: 10.1016/s1353-8020(00)00022-5

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.