LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation
Identifieur interne : 001C95 ( Main/Exploration ); précédent : 001C94; suivant : 001C96LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation
Auteurs : Connie Marras [Canada] ; Christine Klein [Canada, Allemagne] ; Anthony E. Lang [Canada] ; Yosuke Wakutani [Canada] ; Danielle Moreno [Canada] ; Christine Sato [Canada] ; Edwin Yip [Canada] ; Renato P. Munhoz [Brésil] ; Katja Lohmann [Allemagne] ; Ana Dj Armati [Allemagne] ; Andrew Bi [Canada] ; Ekaterina Rogaeva [Canada]Source :
- Neurobiology of aging [ 0197-4580 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
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Abstract
Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.
Affiliations:
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Hospital</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Movement Disorders Centre, Toronto Western Hospital</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Luebeck</wicri:noRegion></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="01"><s1>Movement Disorders Centre, Toronto Western Hospital</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Medicine, Division of Neurology, University Health Network</s1><s2>Toronto, ON</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, ON</wicri:noRegion></affiliation></author><author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Yip, Edwin" sort="Yip, Edwin" uniqKey="Yip E" first="Edwin" last="Yip">Edwin Yip</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. Munhoz</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>State of Paraná Parkinson Association</s1><s2>Curitiba</s2><s3>BRA</s3><sZ>8 aut.</sZ></inist:fA14><country>Brésil</country><wicri:noRegion>State of Paraná Parkinson Association</wicri:noRegion></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Dj Armati, Ana" sort="Dj Armati, Ana" uniqKey="Dj Armati A" first="Ana" last="Dj Armati">Ana Dj Armati</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Bi, Andrew" sort="Bi, Andrew" uniqKey="Bi A" first="Andrew" last="Bi">Andrew Bi</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto</s1><s3>CAN</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Medicine, Division of Neurology, University Health Network</s1><s2>Toronto, ON</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, ON</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Neurobiology of aging</title><title level="j" type="abbreviated">Neurobiol. aging</title><idno type="ISSN">0197-4580</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurobiology of aging</title><title level="j" type="abbreviated">Neurobiol. aging</title><idno type="ISSN">0197-4580</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genotype</term><term>Missense mutation</term><term>Parkin</term><term>Parkinson disease</term><term>Senescence</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkine</term><term>Mutation faux sens</term><term>Génotype</term><term>Sénescence</term><term>Maladie de Parkinson</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Brésil</li><li>Canada</li></country><region><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></noRegion><name sortKey="Bi, Andrew" sort="Bi, Andrew" uniqKey="Bi A" first="Andrew" last="Bi">Andrew Bi</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</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="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name><name sortKey="Yip, Edwin" sort="Yip, Edwin" uniqKey="Yip E" first="Edwin" last="Yip">Edwin Yip</name></country><country name="Allemagne"><noRegion><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></noRegion><name sortKey="Dj Armati, Ana" sort="Dj Armati, Ana" uniqKey="Dj Armati A" first="Ana" last="Dj Armati">Ana Dj Armati</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></country><country name="Brésil"><noRegion><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. 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