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

doi:10.1212/WNL.58.6.965

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

48 Scopus citations

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 language	English (US)
Pages (from-to)	965-967
Number of pages	3
Journal	Neurology
Volume	58
Issue number	6
DOIs	https://doi.org/10.1212/WNL.58.6.965
State	Published - Mar 26 2002

ASJC Scopus subject areas

Clinical Neurology

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

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.",

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doi = "10.1212/WNL.58.6.965",

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T1 - CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

AU - Stevanin, G.

AU - Camuzat, A.

AU - Holmes, S. E.

AU - Julien, C.

AU - Sahloul, R.

AU - Dodé, C.

AU - Hahn-Barma, V.

AU - Ross, C. A.

AU - Margolis, R. L.

AU - Durr, A.

AU - Brice, A.

PY - 2002/3/26

Y1 - 2002/3/26

N2 - 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.

AB - 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.

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AN - SCOPUS:0037177087

SN - 0028-3878

VL - 58

SP - 965

EP - 967

JO - Neurology

JF - Neurology

IS - 6

ER -

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

Abstract

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