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Article

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Cerebellum (London, England) - 1 Feb 2017

Wiethoff Sarah, Bettencourt Conceição, Paudel Reema, Madon Prochi, Liu Yo-Tsen, Hersheson Joshua, Wadia Noshir, Desai Joy, Houlden Henry

Abstract excerpt

Autosomal-recessive cerebellar ataxias (ARCA) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations in a field where the genotype-phenotype correlations are rapidly expanding. We identified two cousins...

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Source

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Identifiers

PMID: 26995604
DOI: 10.1007/s12311-016-0769-x
PMCID: PMC5243903

Genes

PNPLA6

Variants

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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