MovDisordV3, Main, Exploration, bibRecord, 003064

A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features

Identifieur interne : 003064 ( Main/Exploration ); précédent : 003063; suivant : 003065

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 ] ; 2007-10-31.

RBID : ISTEX:D855F22FAD6A70E96C5B69DFF829A180CCAF3A00

Descripteurs français

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

English descriptors

KwdEn :
- Adult, African, Age of Onset, Brain (pathology), CTG repeats, Family Health, Female, Genetic disease, HDL2 phenotype, Humans, Huntington Disease (epidemiology), Huntington Disease (genetics), Huntington Disease (pathology), Huntington Disease (physiopathology), Huntington disease, Huntington disease‐like 2, JPH3, Magnetic Resonance Imaging (methods), Male, Membrane Proteins (genetics), Middle Aged, Nervous system diseases, Phenotype, South, South Africa (epidemiology), South Africa (ethnology), Trinucleotide Repeat Expansion (genetics), genetic ancestry.
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. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/D855F22FAD6A70E96C5B69DFF829A180CCAF3A00/fulltext/pdf

DOI: 10.1002/mds.21672

Affiliations:

Afrique du Sud

Le document en format XML

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<term>Age of Onset</term>
<term>Brain (pathology)</term>
<term>CTG repeats</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic disease</term>
<term>HDL2 phenotype</term>
<term>Humans</term>
<term>Huntington Disease (epidemiology)</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington Disease (pathology)</term>
<term>Huntington Disease (physiopathology)</term>
<term>Huntington disease</term>
<term>Huntington disease‐like 2</term>
<term>JPH3</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Male</term>
<term>Membrane Proteins (genetics)</term>
<term>Middle Aged</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
<term>South</term>
<term>South Africa (epidemiology)</term>
<term>South Africa (ethnology)</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
<term>genetic ancestry</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Trinucleotide Repeat Expansion</term>
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<term>Huntington Disease</term>
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<term>Age of Onset</term>
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<term>Male</term>
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<term>Chorée de Huntington</term>
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<term>Pathologie du   système nerveux</term>
<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. © 2007 Movement Disorder Society</div>
</front>
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<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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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

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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