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PINK1 (PARK6) associated Parkinson disease in Ireland

From the Department of Molecular Neuroscience (Drs. Healy, Abou-Sleiman, Gandhi, Muqit, and Wood, S. Jain), Institute of Neurology, Queen Square, London, UK; Department of Neurology (Dr. Gibson), Belfast City Hospital, UK; School of Biology and Biochemistry (Dr. Ross), Queen’s University Belfast, Northern Ireland; Medical Molecular Biology Unit (Dr. Muqit), Institute of Child Health, University College London, UK; Department of Neurology (Drs. Gosal and Lynch), Mater Misericordiae University Hospital, Dublin, Ireland; and Conway Institute of Biomolecular and Biomedical Research (Drs. Gosal and Lynch), Dublin, Ireland.

Address correspondence and reprint requests to Dr. T. Lynch, Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland; e-mail: tlynch{at}materprivate.ie

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.

Received May 7, 2004. Accepted in final form July 12, 2004.

See also pages 1350 and 1482

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