CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

G. Stevanin, A. Camuzat, S. E. Holmes, C. Julien, R. Sahloul, C. Dodé, V. Hahn-Barma, C. A. Ross, R. L. Margolis, A. Durr, A. Brice

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)965-967
Number of pages3
JournalNeurology
Volume58
Issue number6
DOIs
StatePublished - Mar 26 2002

ASJC Scopus subject areas

  • Clinical Neurology

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