MovDisordV3, PascalFrancis, Corpus, bibRecord, 001040

Huntington's Disease-Like 2 in Brazil-Report of 4 Patients

Identifieur interne : 001040 ( PascalFrancis/Corpus ); précédent : 001039; suivant : 001041

Huntington's Disease-Like 2 in Brazil-Report of 4 Patients

Auteurs : Guilherme G. Riccioppo Rodrigues ; Ruth H. Walker ; Alexis Brice ; Cécile Cazeneuve ; Odile Russaouen ; Helio A. G. Teive ; Renato Puppi Munhoz ; Nilson Becker ; Salmo Raskin ; Lineu Cesar Wemeck ; Wilson Marques Junior ; Vitor Tumas

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:09-0038031

Descripteurs français

Pascal (Inist)
- Chorée de Huntington, Pathologie du système nerveux, Brésil, Homme.

English descriptors

KwdEn :
- Brazil, Human, Huntington disease, Nervous system diseases.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Huntington's Disease-Like 2 in Brazil-Report of 4 Patients`
A11	`01`	`1`		`@1 RICCIOPPO RODRIGUES (Guilherme G.)`
A11	`02`	`1`		`@1 WALKER (Ruth H.)`
A11	`03`	`1`		`@1 BRICE (Alexis)`
A11	`04`	`1`		`@1 CAZENEUVE (Cécile)`
A11	`05`	`1`		`@1 RUSSAOUEN (Odile)`
A11	`06`	`1`		`@1 TEIVE (Helio A. G.)`
A11	`07`	`1`		`@1 PUPPI MUNHOZ (Renato)`
A11	`08`	`1`		`@1 BECKER (Nilson)`
A11	`09`	`1`		`@1 RASKIN (Salmo)`
A11	`10`	`1`		`@1 WEMECK (Lineu Cesar)`
A11	`11`	`1`		`@1 MARQUES JUNIOR (Wilson)`
A11	`12`	`1`		`@1 TUMAS (Vitor)`
A14	`01`			`@1 Department of Neurology, Ribeirao Preto School of Medicine @2 Ribeirao Preto, SP @3 BRA @Z 1 aut. @Z 11 aut. @Z 12 aut.`
A14	`02`			`@1 Department of Neurology, James J. Peters Veterans Affairs Medical Center @2 Bronx, New York @3 USA @Z 2 aut.`
A14	`03`			`@1 Department of Neurology, Mount Sinai School of Medicine @2 New York, New York @3 USA @Z 2 aut.`
A14	`04`			`@1 Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris @3 FRA @Z 3 aut. @Z 4 aut. @Z 5 aut.`
A14	`05`			`@1 Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná @2 Curitiba, PR @3 BRA @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut. @Z 10 aut.`
A20				`@1 2244-2247`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000185020710150`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 17 ref.`
A47	`01`	`1`		`@0 09-0038031`
A60				`@1 P @3 EC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 : 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Chorée de Huntington @5 01`
C03	`01`	`X`	`ENG`	`@0 Huntington disease @5 01`
C03	`01`	`X`	`SPA`	`@0 Corea Huntington @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Brésil @2 NG @5 09`
C03	`03`	`X`	`ENG`	`@0 Brazil @2 NG @5 09`
C03	`03`	`X`	`SPA`	`@0 Brasil @2 NG @5 09`
C03	`04`	`X`	`FRE`	`@0 Homme @5 10`
C03	`04`	`X`	`ENG`	`@0 Human @5 10`
C03	`04`	`X`	`SPA`	`@0 Hombre @5 10`
C07	`01`	`X`	`FRE`	`@0 Amérique du Sud @2 NG`
C07	`01`	`X`	`ENG`	`@0 South America @2 NG`
C07	`01`	`X`	`SPA`	`@0 America del sur @2 NG`
C07	`02`	`X`	`FRE`	`@0 Amérique @2 NG`
C07	`02`	`X`	`ENG`	`@0 America @2 NG`
C07	`02`	`X`	`SPA`	`@0 America @2 NG`
C07	`03`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`03`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`04`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`04`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`04`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`05`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`05`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`05`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`06`	`X`	`FRE`	`@0 Maladie héréditaire @5 40`
C07	`06`	`X`	`ENG`	`@0 Genetic disease @5 40`
C07	`06`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 40`
C07	`07`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`07`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`07`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
N21				`@1 026`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0038031 INIST
ET :	Huntington's Disease-Like 2 in Brazil-Report of 4 Patients
AU :	RICCIOPPO RODRIGUES (Guilherme G.); WALKER (Ruth H.); BRICE (Alexis); CAZENEUVE (Cécile); RUSSAOUEN (Odile); TEIVE (Helio A. G.); PUPPI MUNHOZ (Renato); BECKER (Nilson); RASKIN (Salmo); WEMECK (Lineu Cesar); MARQUES JUNIOR (Wilson); TUMAS (Vitor)
AF :	Department of Neurology, Ribeirao Preto School of Medicine/Ribeirao Preto, SP/Brésil (1 aut., 11 aut., 12 aut.); Department of Neurology, James J. Peters Veterans Affairs Medical Center/Bronx, New York/Etats-Unis (2 aut.); Department of Neurology, Mount Sinai School of Medicine/New York, New York/Etats-Unis (2 aut.); Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris/France (3 aut., 4 aut., 5 aut.); Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná/Curitiba, PR/Brésil (6 aut., 7 aut., 8 aut., 9 aut., 10 aut.)
DT :	Publication en série; Etude de cas, cas et faits cliniques; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 15; Pp. 2244-2247; Bibl. 17 ref.
LA :	Anglais
EA :	: 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.
CC :	002B17; 002B17G
FD :	Chorée de Huntington; Pathologie du système nerveux; Brésil; Homme
FG :	Amérique du Sud; Amérique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central
ED :	Huntington disease; Nervous system diseases; Brazil; Human
EG :	South America; America; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease
SD :	Corea Huntington; Sistema nervioso patología; Brasil; Hombre
LO :	INIST-20953.354000185020710150
ID :	09-0038031

Links to Exploration step

Pascal:09-0038031

Le document en format XML

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<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><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
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<author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name>
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<s2>Bronx, New York</s2>
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<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Mount Sinai School of Medicine</s1>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<author><name sortKey="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</name>
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<author><name sortKey="Russaouen, Odile" sort="Russaouen, Odile" uniqKey="Russaouen O" first="Odile" last="Russaouen">Odile Russaouen</name>
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<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>
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<author><name sortKey="Puppi Munhoz, Renato" sort="Puppi Munhoz, Renato" uniqKey="Puppi Munhoz R" first="Renato" last="Puppi Munhoz">Renato Puppi Munhoz</name>
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<author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name>
<affiliation><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>
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</author>
<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
<affiliation><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>
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<sZ>9 aut.</sZ>
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<author><name sortKey="Wemeck, Lineu Cesar" sort="Wemeck, Lineu Cesar" uniqKey="Wemeck L" first="Lineu Cesar" last="Wemeck">Lineu Cesar Wemeck</name>
<affiliation><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>
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<sZ>8 aut.</sZ>
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</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><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>
</affiliation>
</author>
<author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto, SP</s2>
<s3>BRA</s3>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">09-0038031</idno>
<date when="2008">2008</date>
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<idno type="RBID">Pascal:09-0038031</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001040</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><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>
</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><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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Russaouen, Odile" sort="Russaouen, Odile" uniqKey="Russaouen O" first="Odile" last="Russaouen">Odile Russaouen</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name>
<affiliation><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>
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</affiliation>
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<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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<term>Nervous system diseases</term>
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<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>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<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>
</fA14>
<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>
</fA14>
<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>
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<fA14 i1="05"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná</s1>
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<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>: 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.</s0>
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<s5>40</s5>
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<fC07 i1="06" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>40</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
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<server><NO>PASCAL 09-0038031 INIST</NO>
<ET>Huntington's Disease-Like 2 in Brazil-Report of 4 Patients</ET>
<AU>RICCIOPPO RODRIGUES (Guilherme G.); WALKER (Ruth H.); BRICE (Alexis); CAZENEUVE (Cécile); RUSSAOUEN (Odile); TEIVE (Helio A. G.); PUPPI MUNHOZ (Renato); BECKER (Nilson); RASKIN (Salmo); WEMECK (Lineu Cesar); MARQUES JUNIOR (Wilson); TUMAS (Vitor)</AU>
<AF>Department of Neurology, Ribeirao Preto School of Medicine/Ribeirao Preto, SP/Brésil (1 aut., 11 aut., 12 aut.); Department of Neurology, James J. Peters Veterans Affairs Medical Center/Bronx, New York/Etats-Unis (2 aut.); Department of Neurology, Mount Sinai School of Medicine/New York, New York/Etats-Unis (2 aut.); Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris/France (3 aut., 4 aut., 5 aut.); Movement Disorders Unit, Neurology Service, Hospital de Clíhicas, Federal University of Paraná/Curitiba, PR/Brésil (6 aut., 7 aut., 8 aut., 9 aut., 10 aut.)</AF>
<DT>Publication en série; Etude de cas, cas et faits cliniques; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 15; Pp. 2244-2247; Bibl. 17 ref.</SO>
<LA>Anglais</LA>
<EA>: 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.</EA>
<CC>002B17; 002B17G</CC>
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<ED>Huntington disease; Nervous system diseases; Brazil; Human</ED>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Huntington's Disease-Like 2 in Brazil-Report of 4 Patients

Huntington's Disease-Like 2 in Brazil-Report of 4 Patients

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