作者
Ekaterina Rogaeva, Janel Johnson, Anthony E Lang, Cindy Gulick, Katrina Gwinn-Hardy, Toshitaka Kawarai, Christine Sato, Angharad Morgan, John Werner, Robert Nussbaum, Agnes Petit, Michael S Okun, Aideen McInerney, Ronald Mandel, Justus L Groen, Hubert H Fernandez, Ron Postuma, Kelly D Foote, Shabnam Salehi-Rad, Yan Liang, Sharon Reimsnider, Anurag Tandon, John Hardy, Peter St George-Hyslop, Andrew B Singleton
发表日期
2004/12/1
期刊
Archives of neurology
卷号
61
期号
12
页码范围
1898-1904
出版商
American Medical Association
简介
Background
Mutations in the PTEN-induced kinase (PINK1) gene located within thePARK6locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.
Objective
To assess the prevalence ofPINK1mutations within a series of early- and late-onset Parkinson disease patients living in North America.
Design
All coding exons of thePINK1gene 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 inPINK1are a rare cause of young-onset Parkinson …
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E Rogaeva, J Johnson, AE Lang, C Gulick… - Archives of neurology, 2004