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Article

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Orphanet journal of rare diseases - 17 Apr 2014

Synofzik Matthis, Schüle Rebecca, Schulze Martin, Gburek-Augustat Janina, Schweizer Roland, Schirmacher Anja, Krägeloh-Mann Ingeborg, Gonzalez Michael, Young Peter, Züchner Stephan, Schöls Ludger, Bauer Peter

Abstract excerpt

BACKGROUND: Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 mutations, and to assess their frequency in different Caucasian disease cohorts. METHODS: 300 subjects with degenerative...

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Identifiers

PMID: 24742043
DOI: 10.1186/1750-1172-9-57
PMCID: PMC4021831

Genes

STUB1

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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