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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ISTEX:05DA758D9E631830E86DFEBCED45DDA4591A4C02Le document en format XML
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<term>Huntington Disease (genetics)</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. © 2008 Movement Disorder Society</div>
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<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>
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<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>
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<pubPlace>Hoboken</pubPlace>
<date type="published" when="2008-11-15">2008-11-15</date>
<biblScope unit="vol">23</biblScope>
<biblScope unit="issue">15</biblScope>
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<term>junctophilin 3</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. © 2008 Movement Disorder Society</div>
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<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>
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<wicri:noCountry code="subField">SP Brazil</wicri:noCountry>
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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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<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="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="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="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>
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<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
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<author><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name>
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<author><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name>
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<author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name>
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<wicri:noCountry code="subField">SP Brazil</wicri:noCountry>
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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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<author><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name>
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<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
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<term>Humans</term>
<term>Huntington Disease (genetics)</term>
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<term>Trinucleotide Repeat Expansion (genetics)</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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