Document Detail

Huntington disease-like 2: the first patient with apparent European ancestry.
MedLine Citation:
PMID:  18341606     Owner:  NLM     Status:  MEDLINE    
Huntington disease-like 2 (HDL2) is a rare autosomal dominant disorder of the nervous system, apparently indistinguishable from Huntington disease (HD). HDL2 is caused by the expansion above 40 CTG/CAG repeats, in a variably spliced exon of the junctophilin-3 gene, on chromosome 16q24.3. All patients described so far have been of African ancestry. A clinical evaluation, including the Unified Huntington's Disease Rating Scale, and brain Magnetic resonance imaging were achieved in a 48-year-old Brazilian man of apparent European extraction, and presenting a picture very suggestive of HD. Gene mutation analysis (HD, HDL1, HDL2, dentatorubralpallidoluysian atrophy and spinocerebellar ataxia 17) was performed. After exclusion of the HD mutation and other HDL disorders, we identified an expansion of 47 CTG/CAG at the HDL2 locus. To clarify the origin of the mutation and estimate the patient's ancestry, we performed haplotype studies and used the insertion/deletion polymorphisms method. Despite the fact that this patient had an estimated likelihood of 97.4% of being of European ancestry, the haplotype containing the expanded allele has been found only in Africans. Thus, this is the first HDL2 case reported in a patient with an apparent European ancestry, although bearing an African HDL2 haplotype. This work stresses the importance of performing the diagnosis of HDL2 in HD-like patients of various ethnicities, and particularly in highly mixed populations.
C Santos; H Wanderley; L Vedolin; S D J Pena; L Jardim; J Sequeiros
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-03-12
Journal Detail:
Title:  Clinical genetics     Volume:  73     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-10     Completed Date:  2008-06-03     Revised Date:  2009-04-16    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  480-5     Citation Subset:  IM    
Instituto de Biologia Molecular e Celular, Porto, Portugal.
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MeSH Terms
Brain / pathology
DNA Mutational Analysis
European Continental Ancestry Group*
Huntington Disease / etiology,  genetics*,  physiopathology*
Magnetic Resonance Imaging / methods
Membrane Proteins / genetics
Middle Aged
Trinucleotide Repeat Expansion / genetics*
Reg. No./Substance:
0/Membrane Proteins; 0/junctophilin
Comment In:
Clin Genet. 2009 Feb;75(2):207; author reply 208   [PMID:  18637941 ]

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

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