Huntington's disease‐like 2 in Brazil—Report of 4 patients
Identifieur interne : 000F11 ( Istex/Curation ); précédent : 000F10; suivant : 000F12Huntington's disease‐like 2 in Brazil—Report of 4 patients
Auteurs : Guilherme G. Riccioppo Rodrigues [Brésil] ; Ruth H. Walker [États-Unis] ; Alexis Brice [France] ; Cécile Cazeneuve [France] ; Odile Russaouen [France] ; Helio A. G. Teive [Brésil] ; Renato Puppi Munhoz [Brésil] ; Nilson Becker [Brésil] ; Salmo Raskin [Brésil] ; Lineu Cesar Werneck [Brésil] ; Wilson Marques Junior [Brésil] ; Vitor Tumas [Brésil]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-11-15.
English descriptors
Abstract
Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22223
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Riccioppo" last="Rodrigues">Guilherme G. Riccioppo Rodrigues</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto</wicri:regionArea></affiliation></author><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx</wicri:cityArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris</wicri:regionArea></affiliation></author><author><name sortKey="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris</wicri:regionArea></affiliation></author><author><name sortKey="Russaouen, Odile" sort="Russaouen, Odile" uniqKey="Russaouen O" first="Odile" last="Russaouen">Odile Russaouen</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris</wicri:regionArea></affiliation></author><author><name sortKey="Teive, Helio A G" sort="Teive, Helio A G" uniqKey="Teive H" first="Helio A. G." last="Teive">Helio A. G. Teive</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea></affiliation></author><author><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea></affiliation></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea></affiliation></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea></affiliation></author><author><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea></affiliation></author><author><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto</wicri:regionArea></affiliation></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto</wicri:regionArea></affiliation><affiliation><mods:affiliation>Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Campus Universitário, Bairro Monte Alegre, Ribeirão Preto, SP, Brazil‐CEP 14049‐900</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-11-15">2008-11-15</date><biblScope unit="volume">23</biblScope><biblScope unit="issue">15</biblScope><biblScope unit="page" from="2244">2244</biblScope><biblScope unit="page" to="2247">2247</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">05DA758D9E631830E86DFEBCED45DDA4591A4C02</idno><idno type="DOI">10.1002/mds.22223</idno><idno type="ArticleID">MDS22223</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Huntington's disease</term><term>Huntington's disease like</term><term>junctophilin 3</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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