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Article

Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Journal of neurology - 1 Dec 2014

Deik A, Johannes B, Rucker J C, Sánchez E, Brodie S E, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C

Abstract excerpt

PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in Boucher-Neuhäuser usually manifests before early adulthood,...

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Source

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Identifiers

PMID: 25267340
DOI: 10.1007/s00415-014-7516-3
PMCID: PMC4245359

Genes

PNPLA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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