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A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

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A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

Auteurs : Soraya Bardien [Afrique du Sud] ; Fatima Abrahams [Afrique du Sud] ; Himla Soodyall [Afrique du Sud] ; Lize Van Der Merwe [Afrique du Sud] ; Jacquie Greenberg [Afrique du Sud] ; Tinus Brink [Afrique du Sud] ; Jonathan Carr [Afrique du Sud]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:08-0069700

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Chorée de Huntington, Sud, Africain, Maladie héréditaire, Phénotype.

English descriptors

KwdEn :
- African, Genetic disease, Huntington disease, Nervous system diseases, Phenotype, South.

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.

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Le document en format XML

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<author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
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<s2>Cape Town</s2>
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<country>Afrique du Sud</country>
<wicri:noRegion>Cape Town</wicri:noRegion>
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<author><name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name>
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<s2>Cape Town</s2>
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<author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand</s1>
<s2>Johannesburg</s2>
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<author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name>
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<author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name>
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<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features</title>
<author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
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<author><name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<country>Afrique du Sud</country>
<wicri:noRegion>Cape Town</wicri:noRegion>
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</author>
<author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand</s1>
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<author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name>
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<author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name>
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<s3>ZAF</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
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<sZ>7 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>African</term>
<term>Genetic disease</term>
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<term>Nervous system diseases</term>
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<term>South</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Chorée de Huntington</term>
<term>Sud</term>
<term>Africain</term>
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<term>Phénotype</term>
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<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>
<affiliations><list><country><li>Afrique du Sud</li>
</country>
</list>
<tree><country name="Afrique du Sud"><noRegion><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
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<name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name>
<name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name>
<name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name>
<name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name>
<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>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

Source :

Descripteurs français

English descriptors

Abstract

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