Gordon Holmes syndrome

Definition:

Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.

References:

[1]. David H Margolin, et al. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23;368(21):1992-2003. [Content Brief]

[2]. Nilofer Husain, et al. TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation. Aging Cell. 2017 Apr;16(2):281-292. [Content Brief]

[3]. Patrick Santens, et al. RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. Neurology. 2015 Apr 28;84(17):1760-6. [Content Brief]

[4]. Shahid Mehmood, et al. Gordon Holmes syndrome: finally genotype meets phenotype. Pract Neurol. 2017 Dec;17(6):476-478. [Content Brief]

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