ParkinsonFranceV1, PascalFrancis, Corpus, bibRecord, 000706

A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

Identifieur interne : 000706 ( PascalFrancis/Corpus ); précédent : 000705; suivant : 000707

A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

Auteurs : C. Pirkevi ; S. Lesage ; C. Condroyer ; H. Tomiyama ; N. Hattori ; S. Ertan ; A. Brice ; A. N. Basak

Source :

Neurogenetics : (Oxford. Print) [ 1364-6745 ] ; 2009.

RBID : Pascal:09-0279221

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Mutation, Maladie héréditaire, Conseil génétique, Porteur, Turquie, Japonais, Haplotype, Génétique, Neurologie.

English descriptors

KwdEn :
- Carrier, Genetic counseling, Genetic disease, Genetics, Haplotype, Japanese, Mutation, Nervous system diseases, Neurology, Parkinson disease, Turkey.

Abstract

The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`05`			`@1 Department of Neurology, Juntendo University School of Medicine @2 Tokyo @3 JPN @Z 4 aut. @Z 5 aut.`
A14	`06`			`@1 Department of Neurology, Cerrahpaşa Faculty of Medicine, University of Istanbul @2 34098 Istanbul @3 TUR @Z 6 aut.`
A14	`07`			`@1 Pitié-Salpêtrière Medical School, Pierre and Marie Curie-Paris6 University @2 75013 Paris @3 FRA @Z 7 aut.`
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C01	`01`		`ENG`	@0 The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
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Format Inist (serveur)

NO :	PASCAL 09-0279221 INIST
ET :	A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype
AU :	PIRKEVI (C.); LESAGE (S.); CONDROYER (C.); TOMIYAMA (H.); HATTORI (N.); ERTAN (S.); BRICE (A.); BASAK (A. N.)
AF :	Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory, Bo========gbreve;aziçi University/34342 Istanbul/Turquie (1 aut., 8 aut.); INSERM, UMR S679/75013 Paris/France (2 aut., 3 aut., 7 aut.); Pierre et Marie Curie-Paris6 University, UMR S679, Pitié-Salpêtrière/75013 Paris/France (2 aut., 3 aut., 7 aut.); Federative Institute for Neuroscience Research, IFR 070, Pitié-Salpêtrière/75013 Paris/France (2 aut., 3 aut., 7 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (4 aut., 5 aut.); Department of Neurology, Cerrahpaşa Faculty of Medicine, University of Istanbul/34098 Istanbul/Turquie (6 aut.); Pitié-Salpêtrière Medical School, Pierre and Marie Curie-Paris6 University/75013 Paris/France (7 aut.); Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpêtrière Hospital/75013 Paris/France (7 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Neurogenetics : (Oxford. Print); ISSN 1364-6745; Allemagne; Da. 2009; Vol. 10; No. 3; Pp. 271-273; Bibl. 8 ref.
LA :	Anglais
EA :	The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
CC :	002A04; 002A07; 002A25; 002B23A
FD :	Maladie de Parkinson; Pathologie du système nerveux; Mutation; Maladie héréditaire; Conseil génétique; Porteur; Turquie; Japonais; Haplotype; Génétique; Neurologie
FG :	Asie; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Mutation; Genetic disease; Genetic counseling; Carrier; Turkey; Japanese; Haplotype; Genetics; Neurology
EG :	Asia; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Mutación; Enfermedad hereditaria; Consejo genético; Portador; Turquía; Japonés; Haplotipo; Genética; Neurología
LO :	INIST-26775.354000188332450110
ID :	09-0279221

Links to Exploration step

Pascal:09-0279221

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype</title>
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<author><name sortKey="Tomiyama, H" sort="Tomiyama, H" uniqKey="Tomiyama H" first="H." last="Tomiyama">H. Tomiyama</name>
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<author><name sortKey="Hattori, N" sort="Hattori, N" uniqKey="Hattori N" first="N." last="Hattori">N. Hattori</name>
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<author><name sortKey="Ertan, S" sort="Ertan, S" uniqKey="Ertan S" first="S." last="Ertan">S. Ertan</name>
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<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name>
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<affiliation><inist:fA14 i1="04"><s1>Federative Institute for Neuroscience Research, IFR 070, Pitié-Salpêtrière</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Pitié-Salpêtrière Medical School, Pierre and Marie Curie-Paris6 University</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpêtrière Hospital</s1>
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<s3>FRA</s3>
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<author><name sortKey="Basak, A N" sort="Basak, A N" uniqKey="Basak A" first="A. N." last="Basak">A. N. Basak</name>
<affiliation><inist:fA14 i1="01"><s1>Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory, Bo========gbreve;aziçi University</s1>
<s2>34342 Istanbul</s2>
<s3>TUR</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
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<series><title level="j" type="main">Neurogenetics : (Oxford. Print)</title>
<title level="j" type="abbreviated">Neurogenetics : (Oxf., Print)</title>
<idno type="ISSN">1364-6745</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carrier</term>
<term>Genetic counseling</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Haplotype</term>
<term>Japanese</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Neurology</term>
<term>Parkinson disease</term>
<term>Turkey</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Maladie héréditaire</term>
<term>Conseil génétique</term>
<term>Porteur</term>
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<front><div type="abstract" xml:lang="en">The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.</div>
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<fA14 i1="05"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
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<sZ>5 aut.</sZ>
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</fA14>
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</fA14>
<fA14 i1="08"><s1>Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpêtrière Hospital</s1>
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<ET>A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype</ET>
<AU>PIRKEVI (C.); LESAGE (S.); CONDROYER (C.); TOMIYAMA (H.); HATTORI (N.); ERTAN (S.); BRICE (A.); BASAK (A. N.)</AU>
<AF>Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory, Bo========gbreve;aziçi University/34342 Istanbul/Turquie (1 aut., 8 aut.); INSERM, UMR S679/75013 Paris/France (2 aut., 3 aut., 7 aut.); Pierre et Marie Curie-Paris6 University, UMR S679, Pitié-Salpêtrière/75013 Paris/France (2 aut., 3 aut., 7 aut.); Federative Institute for Neuroscience Research, IFR 070, Pitié-Salpêtrière/75013 Paris/France (2 aut., 3 aut., 7 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (4 aut., 5 aut.); Department of Neurology, Cerrahpaşa Faculty of Medicine, University of Istanbul/34098 Istanbul/Turquie (6 aut.); Pitié-Salpêtrière Medical School, Pierre and Marie Curie-Paris6 University/75013 Paris/France (7 aut.); Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpêtrière Hospital/75013 Paris/France (7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Neurogenetics : (Oxford. Print); ISSN 1364-6745; Allemagne; Da. 2009; Vol. 10; No. 3; Pp. 271-273; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.</EA>
<CC>002A04; 002A07; 002A25; 002B23A</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Mutation; Maladie héréditaire; Conseil génétique; Porteur; Turquie; Japonais; Haplotype; Génétique; Neurologie</FD>
<FG>Asie; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Mutation; Genetic disease; Genetic counseling; Carrier; Turkey; Japanese; Haplotype; Genetics; Neurology</ED>
<EG>Asia; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Mutación; Enfermedad hereditaria; Consejo genético; Portador; Turquía; Japonés; Haplotipo; Genética; Neurología</SD>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

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