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Article

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.

European journal of medical genetics - 1 Feb 2017

Shukla Anju, Upadhyai Priyanka, Shah Jhanvi, Neethukrishna K, Bielas Stephanie, Girisha K M

Abstract excerpt

Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have...

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Identifiers

PMID: 27913285
DOI: 10.1016/j.ejmg.2016.11.006
PMCID: PMC5241222

Genes

SNX14

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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