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 …

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG) n repeat units in normal elder controls

M Shizuka, M Watanabe, Y Ikeda, K Mizushima… - Journal of the …, 1998 - Elsevier
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar
degenerative disease caused by CAG repeat expansions in the human α1A voltage …

Spinocerebellar ataxia type 6: CAG repeat expansion in α1a voltage‐dependent calcium channel gene and clinical variations in japanese population

T Ikeuchi, H Takano, R Koide, S Igarashi… - Annals of Neurology …, 1997 - Wiley Online Library
Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a
heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat …

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 …

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

I Yabe, H Sasaki, T Matsuura, A Takada… - Journal of the …, 1998 - Elsevier
Spinocerebellar ataxia type 6 (SCA6) is caused by small CAG repeat expansion in the gene
encoding the α1A-voltage-dependent-calcium channel subunit (CACNL1A4) on …

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13. 1-p13. 2 and are strongly associated with mild CAG expansions in the …

K Ishikawa, H Tanaka, M Saito, N Ohkoshi… - The American Journal of …, 1997 - cell.com
Autosomal dominant cerebellar ataxia is a group of clinically and genetically heterogeneous
disorders. We carried out genomewide linkage analysis in 15 families with autosomal …

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)

Z Matsuyama, Y Izumi, M Kameyama… - Journal of medical …, 1999 - jmg.bmj.com
The effect of CAT trinucleotide interruptions in the CAG trinucleotide repeats of the SCA1
gene on the age at onset of spinocerebellar ataxia type 1 (SCA1) was investigated. The …

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 …

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

H Takahashi, K Ishikawa, T Tsutsumi… - Journal of human …, 2004 - nature.com
In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140
patients. We observed an inverse correlation between the age of onset and the length of the …

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 …