Article

PINK1 (PARK6) associated Parkinson disease in Ireland

Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK.
Neurology (Impact Factor: 8.3). 11/2004; 63(8):1486-8. DOI: 10.1212/01.WNL.0000142089.38301.8E
Source: PubMed

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.

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Available from: Owen A Ross, Jan 17, 2014
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