Document Detail

Huntington's Disease-like 2 (HDL2) in North America and Japan.
MedLine Citation:
PMID:  15468075     Owner:  NLM     Status:  MEDLINE    
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a variably spliced exon of junctophilin-3. The frequency of HDL2 was determined in nine independent series of patients referred for HD testing or selected for the presence of an HD-like phenotype in North America or Japan. The repeat length, ancestry, and age of onset of all North American HDL2 cases were determined. The results show that HDL2 is very rare, with a frequency of 0 to 15% among patients in the nine case series with an HD-like presentation who do not have the HD mutation. HDL2 is predominantly, and perhaps exclusively, found in individuals of African ancestry. Repeat expansions ranged from 44 to 57 triplets, with length instability in maternal transmission detected in a repeat of r2=0.29, p=0.0098). The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype.
Russell L Margolis; Susan E Holmes; Adam Rosenblatt; Lisa Gourley; Elizabeth O'Hearn; Christopher A Ross; William K Seltzer; Ruth H Walker; Tetsuo Ashizawa; Astrid Rasmussen; Michael Hayden; Elisabeth W Almqvist; Juliette Harris; Stanley Fahn; Marcy E MacDonald; Jayalakshmi Mysore; Takayoshi Shimohata; Shoji Tsuji; Nicholas Potter; Kazuhiro Nakaso; Yoshiki Adachi; Kenji Nakashima; Thomas Bird; Amanda Krause; Penny Greenstein
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Annals of neurology     Volume:  56     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-11-01     Completed Date:  2005-01-10     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  670-4     Citation Subset:  IM    
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
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MeSH Terms
Age of Onset
Huntington Disease / epidemiology,  genetics*
Japan / epidemiology
Membrane Proteins / genetics
Middle Aged
North America / epidemiology
Repetitive Sequences, Nucleic Acid
Trinucleotide Repeat Expansion / genetics*
Grant Support
Reg. No./Substance:
0/Membrane Proteins; 0/junctophilin
Erratum In:
Ann Neurol. 2004 Dec;56(6):911

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

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