Document Detail

A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
MedLine Citation:
PMID:  17708569     Owner:  NLM     Status:  MEDLINE    
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.
Soraya Bardien; Fatima Abrahams; Himla Soodyall; Lize van der Merwe; Jacquie Greenberg; Tinus Brink; Jonathan Carr
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  22     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-11-05     Completed Date:  2008-02-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2083-9     Citation Subset:  IM    
Copyright Information:
(c) 2007 Movement Disorder Society.
Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa.
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MeSH Terms
Age of Onset
Brain / pathology
Family Health*
Huntington Disease / epidemiology,  genetics*,  pathology,  physiopathology*
Magnetic Resonance Imaging / methods
Membrane Proteins / genetics*
Middle Aged
South Africa / epidemiology,  ethnology
Trinucleotide Repeat Expansion / genetics*
Reg. No./Substance:
0/Membrane Proteins; 0/junctophilin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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