TY - JOUR
T1 - Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
AU - Rogaeva, Ekaterina
AU - Johnson, Janel
AU - Lang, Anthony E.
AU - Gulick, Cindy
AU - Gwinn-Hardy, Katrina
AU - Kawarai, Toshitaka
AU - Sato, Christine
AU - Morgan, Angharad
AU - Werner, John S
AU - Nussbaum, Robert
AU - Petit, Agnes
AU - Okun, Michael S.
AU - McInerney, Aideen
AU - Mandel, Ronald
AU - Groen, Justus L.
AU - Fernandez, Hubert H.
AU - Postuma, Ron
AU - Foote, Kelly D.
AU - Salehi-Rad, Shabnam
AU - Liang, Yan
AU - Reimsnider, Sharon
AU - Tandon, Anurag
AU - Hardy, John
AU - St George-Hyslop, Peter
AU - Singleton, Andrew B.
PY - 2004/12
Y1 - 2004/12
N2 - Background: Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease. Objective: To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America. Design: All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects). Results: We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients. Conclusion: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.
AB - Background: Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease. Objective: To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America. Design: All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects). Results: We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients. Conclusion: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.
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U2 - 10.1001/archneur.61.12.1898
DO - 10.1001/archneur.61.12.1898
M3 - Article
C2 - 15596610
AN - SCOPUS:10044275502
VL - 61
SP - 1898
EP - 1904
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 12
ER -