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

被引：38

作者：

Stevanin, G

Camuzat, A

Holmes, SE

Julien, C

Sahloul, R

Dodé, C

Hahn-Barma, V

Ross, CA

Margolis, RL

Durr, A

Brice, A

机构：

[1] Grp Hosp Pitie Salpetriere, INSERM U289, F-75013 Paris, France

[2] Grp Hosp Pitie Salpetriere, Inst Federatif Neurosci, F-75013 Paris, France

[3] Grp Hosp Pitie Salpetriere, Federat Neurol, F-75013 Paris, France

[4] Grp Hosp Pitie Salpetriere, Dept Genet Cytogenet & Embryol, F-75013 Paris, France

[5] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[6] Hop Cochin, Colombes, F-75674 Paris, France

[7] Hop Cochin, Genet Mol Lab, F-75674 Paris, France

来源：

NEUROLOGY | 2002年 / 58卷 / 06期

关键词：

D O I：

10.1212/WNL.58.6.965

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：965 / 967

页数：3

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