ParkinsonCanadaV1, Main, Exploration, bibRecord, 002D51

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

Identifieur interne : 002D51 ( Main/Exploration ); précédent : 002D50; suivant : 002D52

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 :
- Adolescent, Adult, Aged, Amino Acid Sequence, Cohort Studies, Female, Gene Frequency (genetics), Genetic Linkage (genetics), Humans, Male, Middle Aged, Molecular Sequence Data, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Pedigree, Protein Kinases (genetics).
MESH :
- chemical , genetics : Protein Kinases.
- genetics : Gene Frequency, Genetic Linkage, Parkinson Disease.
- Adolescent, Adult, Aged, Amino Acid Sequence, Cohort Studies, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree.

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.

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease</title>
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<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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</author>
<author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name>
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</author>
<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
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</author>
<author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name>
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</author>
<author><name sortKey="Werner, John" sort="Werner, John" uniqKey="Werner J" first="John" last="Werner">John Werner</name>
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<author><name sortKey="Nussbaum, Robert" sort="Nussbaum, Robert" uniqKey="Nussbaum R" first="Robert" last="Nussbaum">Robert Nussbaum</name>
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</author>
<author><name sortKey="Petit, Agnes" sort="Petit, Agnes" uniqKey="Petit A" first="Agnes" last="Petit">Agnes Petit</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
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</author>
<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>
<author><name sortKey="Mandel, Ronald" sort="Mandel, Ronald" uniqKey="Mandel R" first="Ronald" last="Mandel">Ronald Mandel</name>
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<country>États-Unis</country>
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</author>
<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>
<author><name sortKey="Fernandez, Hubert H" sort="Fernandez, Hubert H" uniqKey="Fernandez H" first="Hubert H." last="Fernandez">Hubert H. Fernandez</name>
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<author><name sortKey="Postuma, Ron" sort="Postuma, Ron" uniqKey="Postuma R" first="Ron" last="Postuma">Ron Postuma</name>
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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>
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</author>
<author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
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<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
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</author>
<author><name sortKey="Reimsnider, Sharon" sort="Reimsnider, Sharon" uniqKey="Reimsnider S" first="Sharon" last="Reimsnider">Sharon Reimsnider</name>
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</affiliation>
</author>
<author><name sortKey="Tandon, Anurag" sort="Tandon, Anurag" uniqKey="Tandon A" first="Anurag" last="Tandon">Anurag Tandon</name>
<affiliation wicri:level="4"><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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<series><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Amino Acid Sequence</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Gene Frequency (genetics)</term>
<term>Genetic Linkage (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Nervous system diseases</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Pedigree</term>
<term>Protein Kinases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Frequency</term>
<term>Genetic Linkage</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Amino Acid Sequence</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</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>
<affiliations><list><country><li>Canada</li>
<li>États-Unis</li>
</country>
<region><li>Ontario</li>
</region>
<settlement><li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Canada"><region name="Ontario"><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
</region>
<name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name>
<name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name>
<name sortKey="Petit, Agnes" sort="Petit, Agnes" uniqKey="Petit A" first="Agnes" last="Petit">Agnes Petit</name>
<name sortKey="Postuma, Ron" sort="Postuma, Ron" uniqKey="Postuma R" first="Ron" last="Postuma">Ron Postuma</name>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
<name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<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>
<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>
<name sortKey="Tandon, Anurag" sort="Tandon, Anurag" uniqKey="Tandon A" first="Anurag" last="Tandon">Anurag Tandon</name>
<name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Johnson, Janel" sort="Johnson, Janel" uniqKey="Johnson J" first="Janel" last="Johnson">Janel Johnson</name>
</noRegion>
<name sortKey="Fernandez, Hubert H" sort="Fernandez, Hubert H" uniqKey="Fernandez H" first="Hubert H." last="Fernandez">Hubert H. Fernandez</name>
<name sortKey="Foote, Kelly D" sort="Foote, Kelly D" uniqKey="Foote K" first="Kelly D." last="Foote">Kelly D. Foote</name>
<name sortKey="Gulick, Cindy" sort="Gulick, Cindy" uniqKey="Gulick C" first="Cindy" last="Gulick">Cindy Gulick</name>
<name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Mandel, Ronald" sort="Mandel, Ronald" uniqKey="Mandel R" first="Ronald" last="Mandel">Ronald Mandel</name>
<name sortKey="Mcinerney, Aideen" sort="Mcinerney, Aideen" uniqKey="Mcinerney A" first="Aideen" last="Mcinerney">Aideen Mcinerney</name>
<name sortKey="Nussbaum, Robert" sort="Nussbaum, Robert" uniqKey="Nussbaum R" first="Robert" last="Nussbaum">Robert Nussbaum</name>
<name sortKey="Okun, Michael S" sort="Okun, Michael S" uniqKey="Okun M" first="Michael S." last="Okun">Michael S. Okun</name>
<name sortKey="Reimsnider, Sharon" sort="Reimsnider, Sharon" uniqKey="Reimsnider S" first="Sharon" last="Reimsnider">Sharon Reimsnider</name>
<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
<name sortKey="Werner, John" sort="Werner, John" uniqKey="Werner J" first="John" last="Werner">John Werner</name>
</country>
</tree>
</affiliations>
</record>

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