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    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, Camuzat A, Holmes SE, Julien C, Sahloul R, Dodé C, Hahn-Barma V, Ross CA, Margolis RL, Durr A, Brice A.

    Source

    INSERM U289 and Institut Fédératif des Neurosciences, Paris, France.

    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.

    PMID:
    11914418
    [PubMed - indexed for MEDLINE]

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