PINK1 (PARK6) associated Parkinson disease in Ireland

D. G. Healy; 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

doi:10.1212/01.WNL.0000142089.38301.8E

PINK1 (PARK6) associated Parkinson disease in Ireland

D. G. Healy, 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

Neuroscience

Research output: Contribution to journal › Article › peer-review

84 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1486-1488
Number of pages	3
Journal	Neurology
Volume	63
Issue number	8
DOIs	https://doi.org/10.1212/01.WNL.0000142089.38301.8E
State	Published - Oct 26 2004

ASJC Scopus subject areas

Clinical Neurology

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title = "PINK1 (PARK6) associated Parkinson disease in Ireland",

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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AU - Healy, D. G.

AU - Abou-Sleiman, P. M.

AU - Gibson, J. M.

AU - Ross, O. A.

AU - Jain, S.

AU - Gandhi, S.

AU - Gosal, D.

AU - Muqit, M. M.K.

AU - Wood, N. W.

AU - Lynch, T.

PY - 2004/10/26

Y1 - 2004/10/26

N2 - 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.

AB - 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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PINK1 (PARK6) associated Parkinson disease in Ireland

Abstract

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