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Article

A novel GBA2 gene missense mutation in spastic ataxia.

Annals of human genetics - 1 Jan 2014

Votsi Christina, Zamba-Papanicolaou Eleni, Middleton Lefkos T, Pantzaris Marios, Christodoulou Kyproula

Abstract excerpt

Autosomal recessive cerebellar ataxias (ARCA) encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. We investigated a consanguineous Cypriot family with spastic ataxia, aiming towards identification of the causative mutation. Family members were clinically evaluated and studied at the genetic level. Linkage analysis at...

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Source

Identifiers

PMID: 24252062
DOI: 10.1111/ahg.12045

Genes

GBA2
APTX

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.

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