Huntington's disease-like 2 in Brazil--report of 4 patients.
Identifieur interne : 002011 ( PubMed/Corpus ); précédent : 002010; suivant : 002012Huntington'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 Werneck ; Wilson Marques Junior ; Vitor TumasSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.22223
PubMed: 18816802
Links to Exploration step
pubmed:18816802Le document en format XML
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<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>
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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="Cazeneuve, Cecile" sort="Cazeneuve, Cecile" uniqKey="Cazeneuve C" first="Cécile" last="Cazeneuve">Cécile Cazeneuve</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="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name>
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<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>
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<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</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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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<Abstract><AbstractText>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.</AbstractText>
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