An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

S. Costanzi-Porrini; D. Tessarolo; C. Abbruzzese; M. Liguori; Tetsuo Ashizawa; M. Giacanelli

doi:10.1212/wnl.54.2.491

An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

S. Costanzi-Porrini, D. Tessarolo, C. Abbruzzese, M. Liguori, Tetsuo Ashizawa, M. Giacanelli

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

33 Scopus citations

Abstract

In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)₂₄(CAA)(CAG)₉, who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.

Original language	English (US)
Pages (from-to)	491-493
Number of pages	3
Journal	Neurology
Volume	54
Issue number	2
DOIs	https://doi.org/10.1212/wnl.54.2.491
State	Published - Jan 25 2000

Keywords

CAG
Interrupted repeats
Penetrance
SCA-2

ASJC Scopus subject areas

Clinical Neurology

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10.1212/wnl.54.2.491

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title = "An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia",

abstract = "In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)24(CAA)(CAG)9, who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.",

keywords = "CAG, Interrupted repeats, Penetrance, SCA-2",

author = "S. Costanzi-Porrini and D. Tessarolo and C. Abbruzzese and M. Liguori and Tetsuo Ashizawa and M. Giacanelli",

year = "2000",

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doi = "10.1212/wnl.54.2.491",

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T1 - An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

AU - Costanzi-Porrini, S.

AU - Tessarolo, D.

AU - Abbruzzese, C.

AU - Liguori, M.

AU - Ashizawa, Tetsuo

AU - Giacanelli, M.

PY - 2000/1/25

Y1 - 2000/1/25

N2 - In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)24(CAA)(CAG)9, who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.

AB - In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)24(CAA)(CAG)9, who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.

KW - CAG

KW - Interrupted repeats

KW - Penetrance

KW - SCA-2

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AN - SCOPUS:0034711769

SN - 0028-3878

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JO - Neurology

JF - Neurology

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ER -

An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

Abstract

Keywords

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