Huntington's Disease-Like 2 in Brazil-Report of 4 Patients
Identifieur interne : 000309 ( France/Analysis ); précédent : 000308; suivant : 000310Huntington'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 Wemeck [Brésil] ; Wilson Marques Junior [Brésil] ; Vitor Tumas [Brésil]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
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.
Affiliations:
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Pascal:09-0038031Le document en format XML
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G." last="Teive">Helio A. G. Teive</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Puppi Munhoz, Renato" sort="Puppi Munhoz, Renato" uniqKey="Puppi Munhoz R" first="Renato" last="Puppi Munhoz">Renato Puppi Munhoz</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Wemeck, Lineu Cesar" sort="Wemeck, Lineu Cesar" uniqKey="Wemeck L" first="Lineu Cesar" last="Wemeck">Lineu Cesar Wemeck</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Marques Junior, Wilson" sort="Marques Junior, Wilson" uniqKey="Marques Junior W" first="Wilson" last="Marques Junior">Wilson Marques Junior</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1><s2>Ribeirao Preto, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1><s2>Ribeirao Preto, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0038031</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 09-0038031 INIST</idno><idno type="RBID">Pascal:09-0038031</idno><idno type="wicri:Area/PascalFrancis/Corpus">001040</idno><idno type="wicri:Area/PascalFrancis/Curation">001C79</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001225</idno><idno type="wicri:doubleKey">0885-3185:2008:Riccioppo Rodrigues G:huntington:s:disease</idno><idno type="wicri:Area/Main/Merge">003833</idno><idno type="wicri:Area/Main/Curation">002A73</idno><idno type="wicri:Area/Main/Exploration">002A73</idno><idno type="wicri:Area/France/Extraction">000309</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Huntington's Disease-Like 2 in Brazil-Report of 4 Patients</title><author><name sortKey="Riccioppo Rodrigues, Guilherme G" sort="Riccioppo Rodrigues, Guilherme G" uniqKey="Riccioppo Rodrigues G" first="Guilherme G." last="Riccioppo Rodrigues">Guilherme G. Riccioppo Rodrigues</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1><s2>Ribeirao Preto, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></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"><inist:fA14 i1="02"><s1>Department of Neurology, James J. Peters Veterans Affairs Medical Center</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="04"><s1>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris</s1><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Assistance Publique-Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, 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"><inist:fA14 i1="04"><s1>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris</s1><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Assistance Publique-Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, 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"><inist:fA14 i1="04"><s1>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris</s1><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Assistance Publique-Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, 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. G." last="Teive">Helio A. G. Teive</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Puppi Munhoz, Renato" sort="Puppi Munhoz, Renato" uniqKey="Puppi Munhoz R" first="Renato" last="Puppi Munhoz">Renato Puppi Munhoz</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Wemeck, Lineu Cesar" sort="Wemeck, Lineu Cesar" uniqKey="Wemeck L" first="Lineu Cesar" last="Wemeck">Lineu Cesar Wemeck</name><affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Marques Junior, Wilson" sort="Marques Junior, Wilson" uniqKey="Marques Junior W" first="Wilson" last="Marques Junior">Wilson Marques Junior</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1><s2>Ribeirao Preto, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1><s2>Ribeirao Preto, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brazil</term><term>Human</term><term>Huntington disease</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chorée de Huntington</term><term>Pathologie du système nerveux</term><term>Brésil</term><term>Homme</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></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.</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><li>État de São Paulo</li></region></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Riccioppo Rodrigues, Guilherme G" sort="Riccioppo Rodrigues, Guilherme G" uniqKey="Riccioppo Rodrigues G" first="Guilherme G." last="Riccioppo Rodrigues">Guilherme G. Riccioppo Rodrigues</name></region><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name><name sortKey="Marques Junior, Wilson" sort="Marques Junior, Wilson" uniqKey="Marques Junior W" first="Wilson" last="Marques Junior">Wilson Marques Junior</name><name sortKey="Puppi Munhoz, Renato" sort="Puppi Munhoz, Renato" uniqKey="Puppi Munhoz R" first="Renato" last="Puppi Munhoz">Renato Puppi Munhoz</name><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><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><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><name sortKey="Wemeck, Lineu Cesar" sort="Wemeck, Lineu Cesar" uniqKey="Wemeck L" first="Lineu Cesar" last="Wemeck">Lineu Cesar Wemeck</name></country><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></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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