Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

doi:10.1371/journal.pgen.1003074

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

Community

Back to search

Article

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

PLoS genetics - 1 Jan 2012

Lise Stefano, Clarkson Yvonne, Perkins Emma, Kwasniewska Alexandra, Sadighi Akha Elham, Schnekenberg Ricardo Parolin, Suminaite Daumante, Hope Jilly, Baker Ian, Gregory Lorna, Green Angie, Allan Chris, Lamble Sarah, Jayawant Sandeep, Quaghebeur Gerardine, Cader M Zameel, Hughes Sarah, Armstrong Richard J E, Kanapin Alexander, Rimmer Andrew, Lunter Gerton, Mathieson Iain, Cazier Jean-Baptiste, Buck David, Taylor Jenny C, Bentley David, McVean Gilean, Donnelly Peter, Knight Samantha J L, Jackson Mandy, Ragoussis Jiannis, Németh Andrea H

Abstract excerpt

β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressive, autosomal-dominant pure cerebellar ataxia. SCA5 is sometimes known as "Lincoln ataxia," because the largest known family is descended from relatives of the United...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to Cognition Disorders

Share to Mice, Knockout

Share to Neurons

Share to Purkinje Cells

Share to Spectrin

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 23236289
DOI: 10.1371/journal.pgen.1003074
PMCID: PMC3516553

Genes

SPTBN2

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.PMID 23236289Read ↗

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 ↗

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

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

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Semantic proximity Read ↗

Heterozygous variants in SPTBN1 cause intellectual disability and autism.Semantic proximity Read ↗

Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in HumansSemantic proximity Read ↗

Pathogenic <i>SPTBN1</i> variants cause a novel autosomal dominant neurodevelopmental syndromeSemantic proximity Read ↗

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.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 ↗

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

Spinocerebellar ataxia type 5.Semantic proximity Read ↗

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.Semantic proximity Read ↗

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