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Article

Screening of the SPTBN2 (SCA5) gene in German SCA patients.

Journal of neurology - 1 Dec 2007

Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-Kaesbach G, Bürk K

Abstract excerpt

The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurodegenerative disorders. To date 27 different loci have been identified for these conditions. Recently, two deletions as well as one missense mutation in the beta-III spectrin gene (STBN2) were identified causing SCA5. To evaluate the clinical relevance of these mutations, we screened...

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Source

Identifiers

PMID: 17940722
DOI: 10.1007/s00415-007-0600-1

Genes

SPTBN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Screening of the SPTBN2 (SCA5) gene in German SCA patients.PMID 17940722Read ↗

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.Semantic proximity Read ↗

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.Semantic proximity Read ↗

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.Semantic proximity Read ↗

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.Semantic proximity Read ↗

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.Semantic proximity Read ↗

Spinocerebellar ataxia type 5.Semantic proximity Read ↗

A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.Semantic proximity Read ↗

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.Semantic proximity Read ↗

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.Semantic proximity Read ↗

Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.Semantic proximity Read ↗

Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrinSemantic proximity Read ↗

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