Huntington's disease‐like 2 in Brazil—Report of 4 patients
Identifieur interne : 000289 ( France/Analysis ); précédent : 000288; suivant : 000290Huntington's disease‐like 2 in Brazil—Report of 4 patients
Auteurs : Guilherme G. Riccioppo Rodrigues ; 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 ; Vitor TumasSource :
- Movement Disorders [ 0885-3185 ] ; 2008-11-15.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Adult, Brazil, DNA Mutational Analysis, Exons (genetics), Female, Humans, Huntington Disease (genetics), Huntington Disease (pathology), Huntington's disease, Huntington's disease like, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Middle Aged, Trinucleotide Repeat Expansion (genetics), Young Adult, junctophilin 3.
- MESH :
- chemical , genetics : Membrane Proteins.
- geographic : Brazil.
- genetics : Exons, Huntington Disease, Trinucleotide Repeat Expansion.
- pathology : Huntington Disease.
- Adult, DNA Mutational Analysis, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Young Adult.
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
Url:
DOI: 10.1002/mds.22223
Affiliations:
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ISTEX:05DA758D9E631830E86DFEBCED45DDA4591A4C02Le document en format XML
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Walker</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</name></author><author><name sortKey="Russaouen, Odile" sort="Russaouen, Odile" uniqKey="Russaouen O" first="Odile" last="Russaouen">Odile Russaouen</name></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. 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Peters Veterans Affairs Medical Center, Bronx</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><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><wicri:noRegion>Assistance Publique‐Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Assistance Publique‐Hôpitaux de Paris</wicri:noRegion></affiliation></author><author><name sortKey="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</name><affiliation wicri:level="1"><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><wicri:noRegion>Assistance Publique‐Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Assistance Publique‐Hôpitaux de Paris</wicri:noRegion></affiliation></author><author><name sortKey="Russaouen, Odile" sort="Russaouen, Odile" uniqKey="Russaouen O" first="Odile" last="Russaouen">Odile Russaouen</name><affiliation wicri:level="1"><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><wicri:noRegion>Assistance Publique‐Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Assistance Publique‐Hôpitaux de Paris</wicri:noRegion></affiliation></author><author><name sortKey="Teive, Helio A G" sort="Teive, Helio A G" uniqKey="Teive H" first="Helio A. 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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><affiliations><list><country><li>Brésil</li><li>France</li><li>États-Unis</li></country><region><li>Paraná (État)</li><li>État de New York</li></region></list><tree><noCountry><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name><name sortKey="Rodrigues, Guilherme G Riccioppo" sort="Rodrigues, Guilherme G Riccioppo" uniqKey="Rodrigues G" first="Guilherme G. Riccioppo" last="Rodrigues">Guilherme G. Riccioppo Rodrigues</name><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></region><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></country><country name="France"><noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></noRegion><name sortKey="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</name><name sortKey="Russaouen, Odile" sort="Russaouen, Odile" uniqKey="Russaouen O" first="Odile" last="Russaouen">Odile Russaouen</name></country><country name="Brésil"><region name="Paraná (État)"><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></region><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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