CAG/CTG repeat expansions at the Huntington’s disease-like 2 locus are rare in Huntington’s disease patients.
Neurology. 2002-03-26; 58(6): 965-967
DOI: 10.1212/WNL.58.6.965
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1. Neurology. 2002 Mar 26;58(6):965-7.
CAG/CTG repeat expansions at the Huntington’s disease-like 2 locus are rare in
Huntington’s disease patients.
Stevanin G(1), Camuzat A, Holmes SE, Julien C, Sahloul R, Dodé C, Hahn-Barma V,
Ross CA, Margolis RL, Durr A, Brice A.
Author information:
(1)INSERM U289 and Institut Fédératif des Neurosciences, Paris, France.
The authors report a large series of patients with Huntington disease (HD)-like
phenotype without CAG repeat expansions in the IT15 gene that were screened for
the newly identified CAG/CTG expansion in the gene encoding junctophilin-3.
Normal alleles in controls had from 8 to 28 repeats. A single patient of North
African origin with typical HD carried an allele with 50 uninterrupted repeats,
representing approximately 2% of the non-IT15 HD patients tested. Therefore,
further genetic heterogeneity is expected in HD.
DOI: 10.1212/wnl.58.6.965
PMID: 11914418 [Indexed for MEDLINE]