| Literature DB >> 15505171 |
D G Healy1, P M Abou-Sleiman, J M Gibson, O A Ross, S Jain, S Gandhi, D Gosal, M M K Muqit, N W Wood, T Lynch.
Abstract
Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well-characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H) in exon 2 of the PINK1 gene. Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland.Entities:
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Year: 2004 PMID： 15505171 DOI： 10.1212/01.wnl.0000142089.38301.8e
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910