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Article

A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome.

BMJ case reports - 17 Nov 2023

Bal Kallupurakkal Arjun, Verma Rajesh, Chakraborty Rajarshi

Abstract excerpt

Early-onset cerebellar ataxia has a broad range of challenging differential diagnoses. Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. It is due to mutation in RNF216 and OTUD4 genes which encode for enzymes in the ubiquitin-proteasome...

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Share to Gonadotropin-Releasing Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Spinocerebellar Degenerations

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Source

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Identifiers

PMID: 37977846
DOI: 10.1136/bcr-2023-256994
PMCID: PMC10660149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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