Gordon Holmes syndrome (GHS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Gordon Holmes syndrome (GHS). Genetic mutations, The transmission is autosomal recessive. Fully referenced neurology checklist.
Genetics
- Genetic mutations
- The transmission is autosomal recessive
Clinical features
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Differential diagnosis: Boucher-Neuhauser syndrome
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Differential diagnosis: others
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Investigations
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Treatment
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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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Related checklists
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- Ataxia-telangiectasia like disorder (ATLD)
- COQ8A ataxia
- Cayman ataxia
- Cockayne syndrome
- Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
- Abetalipoproteinaemia
- Autosomal recessive spinocerebellar ataxias (SCAR)
- Autosomal recessive cerebellar ataxia with STUB1 mutations
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Infantile-onset spinocerebellar ataxia (IOSCA)
