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Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.

Clinical neurology and neurosurgery - 1 Aug 2021

Locci Sara, Bianchi Silvia, Tessa Alessandra, Santorelli Filippo Maria, Mignarri Andrea

Abstract excerpt

Gordon Holmes syndrome (GHS) is an autosomal recessive disease characterized by cerebellar ataxia and hypogonadotropic hypogonadism. Among the genes associated with this syndrome, mutations in PNPLA6 have been detected and correlated with the phenotype of GHS. We report a case of a patient affected with GHS, confirmed by physical, neurological, laboratory and genetic analyses. Two compound heterozygous missense...

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Identifiers

PMID: 34157508
DOI: 10.1016/j.clineuro.2021.106763

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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