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Article

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

BMC genetics - 10 Jul 2012

Forman Oliver P, De Risio Luisa, Stewart Jennifer, Mellersh Cathryn S, Beltran Elsa

Abstract excerpt

BACKGROUND: Neonatal cerebellar cortical degeneration is a neurodegenerative disease described in several canine breeds including the Beagle. Affected Beagles are unable to ambulate normally from the onset of walking and the main pathological findings include Purkinje cell loss with swollen dendritic processes. Previous reports suggest an autosomal recessive mode of inheritance. The development of massively...

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Identifiers

PMID: 22781464
DOI: 10.1186/1471-2156-13-55
PMCID: PMC3413603

Genes

SPTBN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.PMID 22781464Read ↗

Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing.Semantic proximity Read ↗

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

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.Semantic proximity Read ↗

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.Semantic proximity Read ↗

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

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