Gordon Holmes syndrome (GHS)
Evidence-based neurology checklist on gordon holmes syndrome (ghs): Genetics Genetic mutations The transmission is autosomal recessive Clinical features Differential diagnosis: Boucher-Neuhauser syndrome Differential diagnosis: others Investigations Treatment
Genetics
- Genetic mutations
- The transmission is autosomal recessive
Clinical features
Differential diagnosis: Boucher-Neuhauser syndrome
Differential diagnosis: others
Investigations
Treatment
References
- Quinton R, Barnett P, Coskeran P, Bouloux PM. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clin Endocrinol (Oxf) 1999; 51:525-529.
- Wiethoff S, Bettencourt C, Paudel R, et al. Pure cerebellar ataxia with homozygous mutations in the PNPLA6 gene. Cerebellum 2017; 16:262-267.
- Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2014; 137:69-77.
- Muharremi E, Kuqo A, Kruja J. Teaching NeuroImage: Gordon Holmes syndrome due to PNPLA6 gene variation. Neurology 2025; 104:e213628.
- Calandra CR, Mocarbel Y, Vishnopolska SA, et al. Gordon Holmes syndrome caused by RNF216 novel mutation in 2 Argentinean siblings. Mov Disord Clin Pract 2019; 6:259-262.
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