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

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.

Cytogenetic and genome research - 1 Jan 2003

Mantuano E, Veneziano L, Jodice C, Frontali M

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clinical, pathological...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Ataxia
Share to Calcium Channels

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

Share to Genetic Neurodegenerative Diseases

Share to Mitochondrial Function and Pathology

Share to Point Mutation

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 14526175
DOI: 10.1159/000072849

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

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.PMID 14526175Read ↗

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.Semantic proximity Read ↗

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.Semantic proximity Read ↗

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

Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.Semantic proximity Read ↗

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxiaSemantic proximity Read ↗

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.Semantic proximity Read ↗

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

Episodic ataxias.Semantic proximity Read ↗

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.Semantic proximity Read ↗

The episodic ataxias.Semantic proximity Read ↗

The spinocerebellar ataxias: order emerges from chaos.Semantic proximity Read ↗

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.Semantic proximity Read ↗

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