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Article

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

European journal of human genetics : EJHG - 1 Feb 2014

Elsayed Solaf M, Heller Raoul, Thoenes Michaela, Zaki Maha S, Swan Daniel, Elsobky Ezzat, Zühlke Christine, Ebermann Inga, Nürnberg Gudrun, Nürnberg Peter, Bolz Hanno J

Abstract excerpt

Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to the respective loci, suggesting further genetic heterogeneity. We combined homozygosity mapping and exome sequencing in a consanguineous Egyptian family with congenital ARCA, mental retardation and pyramidal signs. A homozygous 5-bp deletion in SPTBN2, the gene whose in-frame mutations...

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Identifiers

PMID: 23838597
DOI: 10.1038/ejhg.2013.150
PMCID: PMC3895650

Genes

SPTBN2

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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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