A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
Identifieur interne : 001E02 ( Ncbi/Curation ); précédent : 001E01; suivant : 001E03A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
Auteurs : Soraya Bardien [Afrique du Sud] ; Fatima Abrahams ; Himla Soodyall ; Lize Van Der Merwe ; Jacquie Greenberg ; Tinus Brink ; Jonathan CarrSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Afrique du Sud.
English descriptors
- KwdEn :
- Adult, Age of Onset, Brain (pathology), Family Health, Female, Humans, Huntington Disease (epidemiology), Huntington Disease (genetics), Huntington Disease (pathology), Huntington Disease (physiopathology), Magnetic Resonance Imaging (methods), Male, Membrane Proteins (genetics), Middle Aged, South Africa (epidemiology), South Africa (ethnology), Trinucleotide Repeat Expansion (genetics).
- MESH :
- chemical , genetics : Membrane Proteins.
- geographic , epidemiology : South Africa.
- epidemiology : Huntington Disease.
- geographic , ethnology : South Africa.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- methods : Magnetic Resonance Imaging.
- pathology : Brain, Huntington Disease.
- physiopathology : Huntington Disease.
- Adult, Age of Onset, Family Health, Female, Humans, Male, Middle Aged.
Abstract
Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y-chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations.
DOI: 10.1002/mds.21672
PubMed: 17708569
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first="Himla" last="Soodyall">Himla Soodyall</name></author><author><name sortKey="Van Der Merwe, Lize" sort="Van Der Merwe, Lize" uniqKey="Van Der Merwe L" first="Lize" last="Van Der Merwe">Lize Van Der Merwe</name></author><author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name></author><author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21672</idno><idno type="RBID">pubmed:17708569</idno><idno type="pmid">17708569</idno><idno type="wicri:Area/PubMed/Corpus">002557</idno><idno type="wicri:Area/PubMed/Curation">002557</idno><idno 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uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name></author><author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name></author><author><name sortKey="Van Der Merwe, Lize" sort="Van Der Merwe, Lize" uniqKey="Van Der Merwe L" first="Lize" last="Van Der Merwe">Lize Van Der Merwe</name></author><author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name></author><author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" 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qualifier="epidemiology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>South Africa</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Afrique du Sud</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y-chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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