AJNN
Academic Journal of Neurology and Neurosurgery

The Academic Journal of Neurology and Neurosurgery deals with Neurology and Neurosurgery accepts articles on these topics. Academic Journal of Neurology and Neurosurgery publishes original research articles, review articles, case reports, editorial commentaries, letters to the editor, educational articles, and conference/meeting announcements.

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Case Report
A rare case of hereditary ataxia: Gordon Holmes syndrome: a review of the literature
Abstract
Gordon Holmes syndrome is an extremely rare, autosomal recessive condition with characteristic features of cerebellar progressive ataxia, cerebellar atrophy, and hypogonadotropic hypogonadism, which was first described in 1908 by the British neurologist of the same name. Two genes have to date been frequently associated with this syndrome, RNF216 and PNPLA61. A 23-year-old man presented with secondary sexual character deficiency and progressive difficulty in gait persisting for several years. He was eventually immobilized after seven years of ongoing symptoms and was definitively diagnosed with Gordon Holmes syndrome after genetic testing revealed RNF216 gene mutation.

Keywords : Cerebellar ataxia, ubiquitin, RNF216, neuroendocrinology

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Article available in :
Volume 1, Issue 2, 2024
Page : 33-35
https://doi.org/10.51271/AJNN-0009
Article Information
Received : 12 Mar 2024
Accepted : 26 Nis 2024
Published : 30 Nis 2024
Corresponding Author :

Burak Yuluğ: Department of Neurology, Faculty of Medicine, Alanya Alaaddin Keykubat University, Antalya, Turkiye

[email protected]
Citation : Sayman D, Duran U, Karaca R, Çankaya Ş, Özdemir Öktem E. A rare case of hereditary ataxia: Gordon Holmes syndrome. Acad J Neurol Neurosurg. 2024;1(2):33-35.

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