Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

LG Gouw, MA Castañeda, CK McKenna… - Human molecular …, 1998 - academic.oup.com
The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract
that is expanded in SCA7 patients. We have determined expansions in 73 individuals from …

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

M Chung, LPW Ranum, LA Duvick, A Servadio… - Nature …, 1993 - nature.com
Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease
caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles …

Spinocerebellar ataxia type 2: genotype and phenotype in German kindreds

L Schöls, S Gispert, M Vorgerd… - Archives of …, 1997 - jamanetwork.com
Background: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar
ataxia (ADCA) for which the disease-causing mutation has recently been characterized as …

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 …

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families

RS Ramesar, S Bardien, P Beighton, A Bryer - Human genetics, 1997 - Springer
The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically
heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been …

SCA2 trinucleotide expansion in German SCA patients

O Riess, FA Laccone, S Gispert, L Schöls, C Zühlke… - Neurogenetics, 1997 - Springer
Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically
heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A …

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental …

T Matilla, V Volpinl, D Genis, J Rosell… - Human molecular …, 1993 - academic.oup.com
Autosomal dominant cerebellar ataxia type 1 (ADCA1) is a clinical and genetic
heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia …

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

G Stevanin, A Dürr, A Brice - European Journal of Human Genetics, 2000 - nature.com
Major advances have been made in the understanding of autosomal dominant cerebellar
ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine …

SCA3: neurological features, pathogenesis and animal models

O Riess, U Rüb, A Pastore, P Bauer, L Schöls - The Cerebellum, 2008 - Springer
The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …

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 …