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.

EndNote Style
Case Report
A rare case of hereditary ataxia: Gordon Holmes syndrome: a review of the literature
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.

1. Verma R, Mehta M, Shettigar C, Singla S. Rare case of Gordon Holmessyndrome. BMJ Case Rep. 2018:bcr-2018-225638. doi: 10.1136/bcr-2018-225638
2. Pearce JMS. Sir Gordon Holmes (1876-1965). J Neurol NeurosurgPsychiatry. 2004;75(10):1502-1503. doi: 10.1136/jnnp.2003.016170
3. Salgado P, Carvalho R, Brandão AF, et al. Gordon Holmes syndromedue to compound heterozygosity of two new PNPLA6 variants - Adiagnostic challenge. eNeurologicalSci. 2019;14:9-12. doi: 10.1016/j.ensci.2018.11.022
4. Melnick AF, Gao Y, Liu J, et al. RNF216 is essential for spermatogenesisand male fertility†. Biol Reprod. 2019;100(5):1132-1134. doi: 10.1093/biolre/ioz006
5. Bal Kallupurakkal A, Verma R, Chakraborty R. A novel mutation inRNF216 gene in an Indian case with Gordon Holmes syndrome. BMJCase Rep. 2023;16(11):e256994. doi: 10.1136/bcr-2023-256994
6. Chiu HH, Hsaio CT, Tsai YS, Liao YC, Lee YC, Soong BW. Clinical andgenetic characterization of autosomal recessive spinocerebellar ataxiatype 16 (SCAR16) in Taiwan. Cerebellum. 2020;19(4):544-549. doi:10.1007/s12311-020-01136-4
7. Chen T, Zhu J, Wang Y. RNF216 mediates neuronal injury followingexperimental subarachnoid hemorrhage through the Arc/Arg3.1-AMPAR pathway. FASEB J. 2020;34(11):15080-15092. doi: 10.1096/fj.201903151RRRR
8. Xie S, Hong Z, Li Y, et al. RNF216 alleviates radiation-induced apoptosisand DNA damage through regulating ubiquitination-mediateddegradation of p53 in glioblastoma. Mol Neurobiol. 2022;59(8):4703-4717. doi: 10.1007/s12035-022-02868-6
9. Öktem EÖ, Kumral E, Bayam FE, et al. Prognostic factors forfunctional outcome in patients with mesencephalic hemorrhage. ArchNeuropsychiat. 2023;60(1):9-16. doi: 10.29399/npa.28244
10. Adapted from “Ubiquitin Template”, by BioRender.com 2023. Retrievedfrom https://app.biorender.com/biorender-templates
Volume 1, Issue 2, 2024
Page : 33-35