Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

O Dubourg, A Dürr, G Cancel… - Annals of Neurology …, 1995 - Wiley Online Library
Autosomal dominantly inherited ataxias are a clinically and genetically heterogeneous
group of neurodegenerative disorders. The gene involved in one subtype, spinocerebellar …

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset

LPW Ranum, MY Chung, S Banfi, A Bryer… - American journal of …, 1994 - ncbi.nlm.nih.gov
The spinocerebellar ataxias are a group of debilitating neurodegenerative diseases for
which a clinical classification system has proved unreliable. We have recently isolated the …

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 …

Childhood‐onset ataxia: testing for large CAG‐repeats in SCA2 and SCA7

R Mao, AS Aylsworth, N Potter… - American journal of …, 2002 - Wiley Online Library
Infantile‐and juvenile‐onset spinal cerebellar ataxia (SCA) is associated with expansion of
130 to more than 200 CAG‐repeats in the SCA2 and SCA7 genes. Routine clinical assays …

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

P Giunti, G Sabbadini, MG Sweeney… - Brain: a journal of …, 1998 - academic.oup.com
The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in
the coding region of the ataxin 2 gene on chromosome 12q. 89 families with autosomal …

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 …

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

DH Geschwind, S Perlman, CP Figueroa… - American journal of …, 1997 - ncbi.nlm.nih.gov
The dominant cerebellar ataxias (ADCAs) represent a clinically and genetically
heterogeneous group of disorders linked by progressive deterioration in balance and …

[引用][C] A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

F Quan, J Janas, BW Popovich - Human molecular genetics, 1995 - academic.oup.com
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant, neurodegenerative
disorder characterized by the progressive loss of neurons from the cerebellum, brain stem …

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

Z Matsuyama, H Kawakami, H Maruyama… - Human molecular …, 1997 - academic.oup.com
Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration
caused by the expansion of the polymorphic CAG repeat in the human α1A voltage …