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

S Costanzi-Porrini, D Tessarolo, C Abbruzzese… - Neurology, 2000 - AAN Enterprises
Article 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 …

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

G Cancel, A Dürr, O Didierjean, G Imbert… - Human molecular …, 1997 - academic.oup.com
Abstract Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG
repeat encoding a polyglutamine tract. One hundred and eighty four index patients with …

Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families

YX Zhou, GX Wang, BS Tang, WD Li, DA Wang… - Neurology, 1998 - AAN Enterprises
Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were
heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats …

Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

R Matsumura, N Futamura, Y Fujimoto, S Yanagimoto… - Neurology, 1997 - AAN Enterprises
Spinocerebellar ataxia type 6 (SCA6) is a newly classified autosomal-dominant cerebellar
ataxia (ADCA) associated with CAG repeat expansion. We screened 111 patients with …

The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

D Lorenzetti, S Bohlega, HY Zoghbi - Neurology, 1997 - AAN Enterprises
The autosomal dominant spinocerebellar ataxias (ADSCAs) are a heterogeneous group of
late-onset neurodegenerative disorders with overlapping clinical features. Genetic linkage …

Phenotype variation correlates with CAG repeat length in SCA2-A study of 28 Japanese patients

H Sasaki, A Wakisaka, K Sanpei, H Takano… - Journal of the …, 1998 - Elsevier
Spinocerebellar ataxia-2 (SCA2) is an autosomal dominant ataxia caused by an abnormal
CAG repeat expansion in a novel gene on chromosome 12q24. 1. The size of the mutant …

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

SM Pulst, A Nechiporuk, T Nechiporuk, S Gispert… - Nature …, 1996 - nature.com
The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24. 1. A1. 1–
megabase contig in the candidate region was assembled in P1 artificial chromosome and …

Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.

P Bauer, J Kraus, V Matoska… - Journal of …, 2004 - search.ebscohost.com
Fig. 1 PCR analysis of CAG repeat at SCA7 locus. Products were electrophoresed in
denaturing 6% polyacrylamide/7 M urea gel. A: DNA analysis by radioactive PCR of the …

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1

LG Goldfarb, O Vasconcelos, FA Platonov… - Annals of …, 1996 - Wiley Online Library
A Siberian kindred with spinocerebellar ataxia genetically linked to the SCA1 locus on
chromosome 6p has been screened for the CAG triplet expansion within the coding region …

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian …

A Brusco, C Gellera, C Cagnoli, A Saluto… - Archives of …, 2004 - jamanetwork.com
Background Autosomal dominant cerebellar ataxias are a clinical and genetically
heterogeneous group of progressive neurodegenerative diseases, at present associated …