{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:48:24Z","timestamp":1791416904324,"version":"4.3.3"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,5,21]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>Fragile X-associated tremor\/ataxia syndrome (FXTAS) is a progressive hereditary neurodegenerative disorder which causes intention tremor and cerebellar ataxia. It typically affects the ageing population. Deep brain stimulation (DBS) is widely accepted in the treatment of common movement disorders and has been trialled in treating rare and complex neurodegenerative disorders. We report a case of a man in his 40s with a long history of tremor affecting his hands. MRI brain revealed high T2 signal in the middle cerebellar peduncles. Genetic testing revealed FMR1 premutation confirming the diagnosis of FXTAS. Subsequently, he was treated with multitarget DBS of the ventralis intermediate nucleus and ventralis oralis posterior nuclei bilaterally, with excellent neurological function at 9 years follow-up. This case suggests multitarget DBS for FXTAS with neurophysiology-guided DBS programming can provide excellent long-term tremor suppression in selected patients.<\/jats:p>","DOI":"10.1136\/bcr-2023-259452","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T20:05:14Z","timestamp":1716840314000},"page":"e259452","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Fragile X-associated tremor\/ataxia syndrome treated with multitarget deep brain stimulation"],"prefix":"10.1136","volume":"17","author":[{"given":"Francois","family":"Okoroafor","sequence":"first","affiliation":[{"name":"Neurosurgery Department, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriet","family":"Beattie","sequence":"additional","affiliation":[{"name":"Neurosurgery Department, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8271-8507","authenticated-orcid":false,"given":"Zekai","family":"Qiang","sequence":"additional","affiliation":[{"name":"Neurosurgery Department, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Yianni","sequence":"additional","affiliation":[{"name":"Neurosurgery Department, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"2025082804232527000_17.5.e259452.1","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1097\/WCO.0000000000000954","article-title":"Fragile X-associated tremor\/ataxia syndrome: pathophysiology and management","volume":"34","author":"Hagerman","year":"2021","journal-title":"Curr Opin Neurol"},{"key":"2025082804232527000_17.5.e259452.2","doi-asserted-by":"crossref","unstructured":"Salcedo-Arellano MJ , Dufour B , McLennan Y , et al . Fragile X syndrome and associated disorders: clinical aspects and pathology. Neurobiol Dis 2020;136. doi:10.1016\/j.nbd.2020.104740","DOI":"10.1016\/j.nbd.2020.104740"},{"key":"2025082804232527000_17.5.e259452.3","doi-asserted-by":"crossref","unstructured":"Pycroft L , Stein J , Aziz T . Deep brain stimulation: an overview of history, methods, and future developments. Brain Neurosci Adv 2018;2. doi:10.1177\/2398212818816017","DOI":"10.1177\/2398212818816017"},{"key":"2025082804232527000_17.5.e259452.4","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00281.2015"},{"key":"2025082804232527000_17.5.e259452.5","doi-asserted-by":"crossref","unstructured":"Parker T , Raghu ALB , FitzGerald JJ , et al . Multitarget deep brain stimulation for clinically complex movement disorders. J Neurosurg 2020;1\u20136. doi:10.3171\/2019.11.JNS192224","DOI":"10.3171\/2019.11.JNS192224"},{"key":"2025082804232527000_17.5.e259452.6","doi-asserted-by":"crossref","unstructured":"Jakobs M , Fomenko A , Lozano AM , et al . Cellular, molecular, and clinical mechanisms of action of deep brain stimulation\u2014a systematic review on established indications and outlook on future developments. EMBO Mol Med 2019;11. doi:10.15252\/emmm.201809575","DOI":"10.15252\/emmm.201809575"},{"key":"2025082804232527000_17.5.e259452.7","doi-asserted-by":"crossref","first-page":"17065","DOI":"10.1038\/nrdp.2017.65","article-title":"Fragile X syndrome","volume":"3","author":"Hagerman","year":"2017","journal-title":"Nat Rev Dis Primers"},{"key":"2025082804232527000_17.5.e259452.8","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1212\/01.wnl.0000168900.86323.9c","article-title":"Initial diagnoses given to persons with the fragile X associated tremor\/ataxia syndrome (FXTAS)","volume":"65","author":"Hall","year":"2005","journal-title":"Neurology"},{"key":"2025082804232527000_17.5.e259452.9","doi-asserted-by":"crossref","unstructured":"Duchet B , Sermon JJ , Weerasinghe G , et al . How to Entrain a selected neuronal rhythm but not others: open-loop Dithered brain stimulation for selective Entrainment. J Neural Eng 2023;20. doi:10.1088\/1741-2552\/acbc4a","DOI":"10.1088\/1741-2552\/acbc4a"},{"key":"2025082804232527000_17.5.e259452.10","doi-asserted-by":"publisher","DOI":"10.2310\/JIM.0b013e3181af59c4"},{"key":"2025082804232527000_17.5.e259452.11","unstructured":"Seritan A , Cogswell J , Grigsby J . Cognitive dysfunction in Fmr1 Premutation carriers"},{"key":"2025082804232527000_17.5.e259452.12","doi-asserted-by":"crossref","unstructured":"Hagerman RJ , Protic D , Rajaratnam A , et al . Fragile X-associated neuropsychiatric disorders (FXAND). Front Psychiatry 2018;9. doi:10.3389\/fpsyt.2018.00564","DOI":"10.3389\/fpsyt.2018.00564"},{"key":"2025082804232527000_17.5.e259452.13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30786"},{"key":"2025082804232527000_17.5.e259452.14","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1007\/s00415-018-8823-x","article-title":"Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming","volume":"265","author":"Artusi","year":"2018","journal-title":"J Neurol"},{"key":"2025082804232527000_17.5.e259452.15","doi-asserted-by":"crossref","unstructured":"Oyama G , Thompson A , Foote KD , et al . Deep brain stimulation for tremor associated with underlying ataxia syndromes: a case series and discussion of issues. Tremor Other Hyperkinet Mov (N Y) 2014;4. doi:10.7916\/D8542KQ5","DOI":"10.5334\/tohm.180"},{"key":"2025082804232527000_17.5.e259452.16","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.pjnns.2016.04.004","article-title":"Deep brain stimulation or thalamotomy in fragile X-associated tremor\/ataxia syndrome","volume":"50","author":"Tam\u00e1s","year":"2016","journal-title":"Neurol Neurochir Pol"},{"key":"2025082804232527000_17.5.e259452.17","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.parkreldis.2014.12.015","article-title":"Long-term outcome of deep brain stimulation in fragile X-associated tremor\/ataxia syndrome","volume":"21","author":"Weiss","year":"2015","journal-title":"Parkinsonism & Related Disorders"},{"key":"2025082804232527000_17.5.e259452.18","doi-asserted-by":"crossref","unstructured":"Chandra V , Hilliard JD , Foote KD . Deep brain stimulation for the treatment of tremor. J Neurol Sci 2022;435. doi:10.1016\/j.jns.2022.120190","DOI":"10.1016\/j.jns.2022.120190"},{"key":"2025082804232527000_17.5.e259452.19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.clinph.2021.12.010","article-title":"Non-invasive transcranial ultrasound stimulation for Neuromodulation","volume":"135","author":"Darmani","year":"2022","journal-title":"Clin Neurophysiol"},{"key":"2025082804232527000_17.5.e259452.20","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008561"},{"key":"2025082804232527000_17.5.e259452.21","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa2016311"},{"key":"2025082804232527000_17.5.e259452.22","doi-asserted-by":"crossref","unstructured":"Lin F , Wu D , Yu J , et al . Comparison of efficacy of deep brain stimulation and focused ultrasound in parkinsonian tremor: a systematic review and network meta-analysis. J Neurol Neurosurg Psychiatry 2021. doi:10.1136\/jnnp-2020-323656","DOI":"10.1136\/jnnp-2020-323656"},{"key":"2025082804232527000_17.5.e259452.23","doi-asserted-by":"crossref","first-page":"e144","DOI":"10.1016\/j.wneu.2019.01.281","article-title":"Unilateral thalamic deep brain stimulation versus focused ultrasound thalamotomy for essential tremor","volume":"126","author":"Harary","year":"2019","journal-title":"World Neurosurg"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:23:40Z","timestamp":1756380220000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,27]]},"published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1136\/bcr-2023-259452"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259452","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]}}}