Huntington's disease‐like 2 in Brazil—Report of 4 patients
Identifieur interne : 003383 ( Main/Merge ); précédent : 003382; suivant : 003384Huntington'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
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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="vol">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>Adult</term><term>Brazil</term><term>DNA Mutational Analysis</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Huntington's disease</term><term>Huntington's disease like</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</term><term>junctophilin 3</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Huntington Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</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><double doi="10.1002/mds.22223"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Huntington's disease‐like 2 in Brazil—Report of 4 patients</title><author><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></author><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. 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. Teive</name></author><author><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name></author><author><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:05DA758D9E631830E86DFEBCED45DDA4591A4C02</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/mds.22223</idno><idno type="url">https://api.istex.fr/document/05DA758D9E631830E86DFEBCED45DDA4591A4C02/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001712</idno><idno type="wicri:Area/Istex/Curation">001712</idno><idno type="wicri:Area/Istex/Checkpoint">001361</idno><idno type="wicri:doubleKey">0885-3185:2008:Rodrigues G:huntington:s:disease</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Huntington's disease‐like 2 in Brazil—Report of 4 patients</title><author><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><affiliation><wicri:noCountry code="subField">SP Brazil</wicri:noCountry></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"><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="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. G." last="Teive">Helio A. G. Teive</name><affiliation wicri:level="2"><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></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="2"><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><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"><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><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"><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></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="2"><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></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:noCountry code="subField">SP Brazil</wicri:noCountry></affiliation></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><affiliation><wicri:noCountry code="subField">SP Brazil</wicri:noCountry></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="vol">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></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Huntington's disease-like 2 in Brazil--report of 4 patients.</title><author><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><affiliation><nlm:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil.</nlm:affiliation><wicri:noCountry code="subField">SP Brazil</wicri:noCountry></affiliation></author><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. 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. Teive</name></author><author><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name></author><author><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22223</idno><idno type="RBID">pubmed:18816802</idno><idno type="pmid">18816802</idno><idno type="wicri:Area/PubMed/Corpus">002011</idno><idno type="wicri:Area/PubMed/Curation">002011</idno><idno type="wicri:Area/PubMed/Checkpoint">002255</idno><idno type="wicri:Area/Ncbi/Merge">002352</idno><idno type="wicri:Area/Ncbi/Curation">002352</idno><idno type="wicri:Area/Ncbi/Checkpoint">002352</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Huntington's disease-like 2 in Brazil--report of 4 patients.</title><author><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><affiliation><nlm:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil.</nlm:affiliation><wicri:noCountry code="subField">SP Brazil</wicri:noCountry></affiliation></author><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. 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. Teive</name></author><author><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name></author><author><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Brazil</term><term>DNA Mutational Analysis</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Huntington Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</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></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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