A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features
Identifieur interne : 001475 ( PascalFrancis/Corpus ); précédent : 001474; suivant : 001476A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features
Auteurs : Soraya Bardien ; Fatima Abrahams ; Himla Soodyall ; Lize Van Der Merwe ; Jacquie Greenberg ; Tinus Brink ; Jonathan CarrSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
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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Pour connaître la documentation sur le format Inist Standard.
pA |
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Format Inist (serveur)
NO : | PASCAL 08-0069700 INIST |
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ET : | A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features |
AU : | BARDIEN (Soraya); ABRAHAMS (Fatima); SOODYALL (Himla); VAN DER MERWE (Lize); GREENBERG (Jacquie); BRINK (Tinus); CARR (Jonathan) |
AF : | Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch/Cape Town/Afrique du Sud (1 aut., 2 aut.); MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand/Johannesburg/Afrique du Sud (3 aut.); Biostatistics Unit, Medical Research Council of South Africa/Cape Town/Afrique du Sud (4 aut.); MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town/Cape Town/Afrique du Sud (5 aut.); Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch/Cape Town/Afrique du Sud (6 aut., 7 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 14; Pp. 2083-2089; Bibl. 22 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17G; 002B17A03 |
FD : | Pathologie du système nerveux; Chorée de Huntington; Sud; Africain; Maladie héréditaire; Phénotype |
FG : | Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central |
ED : | Nervous system diseases; Huntington disease; South; African; Genetic disease; Phenotype |
EG : | Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease |
SD : | Sistema nervioso patología; Corea Huntington; Sur; Africano; Enfermedad hereditaria; Fenotipo |
LO : | INIST-20953.354000174393170110 |
ID : | 08-0069700 |
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Pascal:08-0069700Le document en format XML
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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>
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<server><NO>PASCAL 08-0069700 INIST</NO>
<ET>A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features</ET>
<AU>BARDIEN (Soraya); ABRAHAMS (Fatima); SOODYALL (Himla); VAN DER MERWE (Lize); GREENBERG (Jacquie); BRINK (Tinus); CARR (Jonathan)</AU>
<AF>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch/Cape Town/Afrique du Sud (1 aut., 2 aut.); MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand/Johannesburg/Afrique du Sud (3 aut.); Biostatistics Unit, Medical Research Council of South Africa/Cape Town/Afrique du Sud (4 aut.); MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town/Cape Town/Afrique du Sud (5 aut.); Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch/Cape Town/Afrique du Sud (6 aut., 7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 14; Pp. 2083-2089; Bibl. 22 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17A03</CC>
<FD>Pathologie du système nerveux; Chorée de Huntington; Sud; Africain; Maladie héréditaire; Phénotype</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Nervous system diseases; Huntington disease; South; African; Genetic disease; Phenotype</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Corea Huntington; Sur; Africano; Enfermedad hereditaria; Fenotipo</SD>
<LO>INIST-20953.354000174393170110</LO>
<ID>08-0069700</ID>
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