Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of the neurological sciences - 1 Jan 1998

Yabe I, Sasaki H, Matsuura T, Takada A, Wakisaka A, Suzuki Y, Fukazawa T, Hamada T, Oda T, Ohnishi A, Tashiro K

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is caused by small CAG repeat expansion in the gene encoding the alpha1A-voltage-dependent-calcium channel subunit (CACNLIA4) on chromosome 19p13, and is a subgroup of the late-onset pure cerebellar ataxia (ADCA III). To investigate the prevalence of SCA6 in the Japanese, we analyzed this mutation in 23 families and 12 probands with ADCA III. The specificity and stability of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Alleles

Share to Cohort Studies

Share to DNA Mutational Analysis

Share to Gene Frequency

Share to Nerve Tissue Proteins

Source

Identifiers

PMID: 9559993
DOI: 10.1016/s0022-510x(98)00009-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.PMID 9559993Read ↗

Spinocerebellar ataxia type 6: CAG repeat expansion in α<sub>1a</sub> voltage‐dependent calcium channel gene and clinical variations in japanese populationSemantic proximity Read ↗

Clinical and molecular features of spinocerebellar ataxia type 6.Semantic proximity Read ↗

Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6).Semantic proximity Read ↗

Spinocerebellar ataxia type 6 in Brazil.Semantic proximity Read ↗

Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6).Semantic proximity Read ↗

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.Semantic proximity Read ↗

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.Semantic proximity Read ↗

[SCA6: From gene identification to recent progress on pathogenesis].Semantic proximity Read ↗

Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.Semantic proximity Read ↗

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.Semantic proximity Read ↗

CAG repeat expansions in patients with sporadic cerebellar ataxiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.