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Article

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.

BMC neurology - 20 Sept 2016

Lu Cong, Zheng Yi-Cen, Dong Yi, Li Hong-Fu

Abstract excerpt

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities, most likely due to the degeneration of cerebellum, brainstem, and spinal cord. Despite of the rarity, ARCA are both clinically and genetically heterogeneous. To date, more than 30 culprit genes...

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Source

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Identifiers

PMID: 27644330
DOI: 10.1186/s12883-016-0696-y
PMCID: PMC5029030

Genes

SETX
AFP
FXN
GAA

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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