ParkinsonCanadaV1, PascalFrancis, Curation, bibRecord, 000386

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Identifieur interne : 000386 ( PascalFrancis/Curation ); précédent : 000385; suivant : 000387

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Auteurs : Ekaterina Rogaeva [Canada] ; Janel Johnson [États-Unis] ; Anthony E. Lang [Canada] ; Cindy Gulick [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Toshitaka Kawarai [Canada] ; Christine Sato [Canada] ; Angharad Morgan [Canada] ; John Werner [États-Unis] ; Robert Nussbaum [États-Unis] ; Agnes Petit [Canada] ; Michael S. Okun [États-Unis] ; Aideen Mcinerney [États-Unis] ; Ronald Mandel [États-Unis] ; Justus L. Groen [Canada] ; Hubert H. Fernandez [États-Unis] ; Ron Postuma [Canada] ; Kelly D. Foote [États-Unis] ; Shabnam Salehi-Rad [Canada] ; YAN LIANG [Canada] ; Sharon Reimsnider [États-Unis] ; Anurag Tandon [Canada] ; John Hardy [États-Unis] ; Peter St George-Hyslop [Canada] ; Andrew B. Singleton [États-Unis]

Source :

Archives of neurology : (Chicago) [ 0003-9942 ] ; 2004.

RBID : Pascal:05-0077648

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie.

English descriptors

KwdEn :
- Nervous system diseases, Parkinson disease.

Abstract

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 PINKI are a rare cause of young-onset Parkinson disease.

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A08	`01`	`1`	`ENG`	`@1 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease`
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A11	`03`	`1`		`@1 LANG (Anthony E.)`
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A11	`18`	`1`		`@1 FOOTE (Kelly D.)`
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C01	`01`		`ENG`	@0 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 PINKI are a rare cause of young-onset Parkinson disease.
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Le document en format XML

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<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
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<author><name sortKey="Okun, Michael S" sort="Okun, Michael S" uniqKey="Okun M" first="Michael S." last="Okun">Michael S. Okun</name>
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<author><name sortKey="Mcinerney, Aideen" sort="Mcinerney, Aideen" uniqKey="Mcinerney A" first="Aideen" last="Mcinerney">Aideen Mcinerney</name>
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<author><name sortKey="Mandel, Ronald" sort="Mandel, Ronald" uniqKey="Mandel R" first="Ronald" last="Mandel">Ronald Mandel</name>
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<author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name>
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<author><name sortKey="Fernandez, Hubert H" sort="Fernandez, Hubert H" uniqKey="Fernandez H" first="Hubert H." last="Fernandez">Hubert H. Fernandez</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
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<author><name sortKey="Postuma, Ron" sort="Postuma, Ron" uniqKey="Postuma R" first="Ron" last="Postuma">Ron Postuma</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
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<author><name sortKey="Foote, Kelly D" sort="Foote, Kelly D" uniqKey="Foote K" first="Kelly D." last="Foote">Kelly D. Foote</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
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<author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
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<author><name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
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<author><name sortKey="Reimsnider, Sharon" sort="Reimsnider, Sharon" uniqKey="Reimsnider S" first="Sharon" last="Reimsnider">Sharon Reimsnider</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
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<country>États-Unis</country>
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</author>
<author><name sortKey="Tandon, Anurag" sort="Tandon, Anurag" uniqKey="Tandon A" first="Anurag" last="Tandon">Anurag Tandon</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name>
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<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Molecular Genetics Section, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Laboratory of Neurogenetics, National Institutes of Health</s1>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">05-0077648</idno>
<date when="2004">2004</date>
<idno type="stanalyst">PASCAL 05-0077648 INIST</idno>
<idno type="RBID">Pascal:05-0077648</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000937</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000386</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease</title>
<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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<sZ>24 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Neurology, Department of Medicine, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Johnson, Janel" sort="Johnson, Janel" uniqKey="Johnson J" first="Janel" last="Johnson">Janel Johnson</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Molecular Genetics Section, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
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<sZ>4 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Department of Medicine, University Health Network</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Gulick, Cindy" sort="Gulick, Cindy" uniqKey="Gulick C" first="Cindy" last="Gulick">Cindy Gulick</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Molecular Genetics Section, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Werner, John" sort="Werner, John" uniqKey="Werner J" first="John" last="Werner">John Werner</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Nussbaum, Robert" sort="Nussbaum, Robert" uniqKey="Nussbaum R" first="Robert" last="Nussbaum">Robert Nussbaum</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Petit, Agnes" sort="Petit, Agnes" uniqKey="Petit A" first="Agnes" last="Petit">Agnes Petit</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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<sZ>7 aut.</sZ>
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<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Okun, Michael S" sort="Okun, Michael S" uniqKey="Okun M" first="Michael S." last="Okun">Michael S. Okun</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Mcinerney, Aideen" sort="Mcinerney, Aideen" uniqKey="Mcinerney A" first="Aideen" last="Mcinerney">Aideen Mcinerney</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Mandel, Ronald" sort="Mandel, Ronald" uniqKey="Mandel R" first="Ronald" last="Mandel">Ronald Mandel</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Fernandez, Hubert H" sort="Fernandez, Hubert H" uniqKey="Fernandez H" first="Hubert H." last="Fernandez">Hubert H. Fernandez</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Postuma, Ron" sort="Postuma, Ron" uniqKey="Postuma R" first="Ron" last="Postuma">Ron Postuma</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Foote, Kelly D" sort="Foote, Kelly D" uniqKey="Foote K" first="Kelly D." last="Foote">Kelly D. Foote</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Reimsnider, Sharon" sort="Reimsnider, Sharon" uniqKey="Reimsnider S" first="Sharon" last="Reimsnider">Sharon Reimsnider</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Tandon, Anurag" sort="Tandon, Anurag" uniqKey="Tandon A" first="Anurag" last="Tandon">Anurag Tandon</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Laboratory of Neurogenetics, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>23 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
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</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Department of Medicine, University Health Network</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Molecular Genetics Section, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Laboratory of Neurogenetics, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>23 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 PINKI are a rare cause of young-onset Parkinson disease.</div>
</front>
</TEI>
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<fA03 i2="1"><s0>Arch. neurol. : (Chic.)</s0>
</fA03>
<fA05><s2>61</s2>
</fA05>
<fA06><s2>12</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>ROGAEVA (Ekaterina)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>JOHNSON (Janel)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>LANG (Anthony E.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>GULICK (Cindy)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>GWINN-HARDY (Katrina)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>KAWARAI (Toshitaka)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>SATO (Christine)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>MORGAN (Angharad)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>WERNER (John)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>NUSSBAUM (Robert)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>PETIT (Agnes)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>OKUN (Michael S.)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>MCINERNEY (Aideen)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>MANDEL (Ronald)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>GROEN (Justus L.)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>FERNANDEZ (Hubert H.)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>POSTUMA (Ron)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>FOOTE (Kelly D.)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>SALEHI-RAD (Shabnam)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>YAN LIANG</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>REIMSNIDER (Sharon)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>TANDON (Anurag)</s1>
</fA11>
<fA11 i1="23" i2="1"><s1>HARDY (John)</s1>
</fA11>
<fA11 i1="24" i2="1"><s1>ST GEORGE-HYSLOP (Peter)</s1>
</fA11>
<fA11 i1="25" i2="1"><s1>SINGLETON (Andrew B.)</s1>
</fA11>
<fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Division of Neurology, Department of Medicine, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Molecular Genetics Section, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>25 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Division of Neurology, Department of Medicine, University Health Network</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Movement Disorders Center, Departments of Neurology, Neurosurgery, and Psychiatry, University of Florida</s1>
<s2>Gainesville</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>21 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Laboratory of Neurogenetics, National Institutes of Health</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>23 aut.</sZ>
<sZ>25 aut.</sZ>
</fA14>
<fA20><s1>1898-1904</s1>
</fA20>
<fA21><s1>2004</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>2048B</s2>
<s5>354000126457440100</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2005 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>16 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>05-0077648</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Archives of neurology : (Chicago)</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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 PINKI are a rare cause of young-onset Parkinson disease.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17E</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>04</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>04</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>045</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

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