Artículos por temáticas

Stiff person spectrum disorder: overview with emphasis on head and neck comorbidities

Brooks JK, Hanna YA, Al-Mefleh A.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2025 Jan;139(1):33-41. doi: 10.1016/j.oooo.2024.08.012. Epub 2024 Aug 22.

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene

Galota F, Di Rauso G, Sireci F, Castellucci A, Cavallieri F, Monfrini E, Fioravanti V, Campanini I, Merlo A, Napoli M, Cavazzuti L, Grisanti S, Ferrari S, Di Fonzo A, Valzania F.

Neurol Sci. 2025 Jan;46(1):469-472. doi: 10.1007/s10072-024-07761-9. Epub 2024 Sep 19.

Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea

Harisankar K, Singh J, Mehta S, Lal V.

Pract Neurol. 2025 Jan 16;25(1):63-65. doi: 10.1136/pn-2024-004213.

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease

Xu F, Huang H, Shen Q, Bao Y, Zhang D, Liu L, Xu Y.

Neurol Sci. 2025 Jan;46(1):437-444. doi: 10.1007/s10072-024-07676-5. Epub 2024 Jul 6.

Case Presentation of a Neuroglial Cyst Causing Acute Hydrocephalus

Byrd EM, Johnston JM.

J Pediatr Health Care. 2025 Jan-Feb;39(1):83-87. doi: 10.1016/j.pedhc.2024.05.003. Epub 2024 Jun 21.

An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)

Shukla S, Gupta K, Singh K, Mishra A, Kumar A.

Mol Neurobiol. 2025 Jan;62(1):693-707. doi: 10.1007/s12035-024-04307-0. Epub 2024 Jun 19.

CARP VIII antibody-related autoimmune cerebellar ataxia in a child after Mycoplasma pneumoniae infection: a case report

Li M, Han Z, Li J, Wang Q, Lv Z.

Front Immunol. 2025 Jan 14;15:1480212. doi: 10.3389/fimmu.2024.1480212. eCollection 2024.

Post-infectious acute cerebellar ataxia in a young adult

Koren TJ, Kiernan MC.

BMJ Case Rep. 2025 Jan 27;18(1):e262043. doi: 10.1136/bcr-2024-262043.

Emerging Deep Brain Stimulation Targets in the Cerebellum for Tremor

Shih LC.

Cerebellum. 2025 Jan 27;24(2):38. doi: 10.1007/s12311-025-01789-z.

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome

Anderson CJ, Figueroa KP, Paul S, Gandelman M, Dansithong W, Katakowski JA, Scoles DR, Pulst SM.

bioRxiv [Preprint]. 2025 Jan 16:2024.10.31.621435. doi: 10.1101/2024.10.31.621435.

REV7 associates with ATRIP and inhibits ATR kinase activity

Biller M, Kabir S, Nipper S, Allen S, Kayali Y, Kuncik S, Sasanuma H, Zhou P, Vaziri C, Tomida J.

bioRxiv [Preprint]. 2025 Jan 18:2025.01.17.633588. doi: 10.1101/2025.01.17.633588.

Papillary Tumor of the Pineal Region Treated With Surgery and Postoperative Radiotherapy: A Case Report

Royal-Preyra B, Boucher M.

Cureus. 2025 Jan 25;17(1):e77989. doi: 10.7759/cureus.77989. eCollection 2025 Jan.

Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome)

Gattermeyer-Kell L, Kern D, Kögl M, Schwingenschuh P.

Tremor Other Hyperkinet Mov (N Y). 2025 Jan 20;15:4. doi: 10.5334/tohm.992. eCollection 2025.

Eye Tracking during Passage Reading Supports Precise Oculomotor Assessment in Ataxias

Oubre B, Yang F, Luddy AC, Manohar R, Soja NN, Stephen CD, Schmahmann JD, Kulkarni D, White L, Patel S, Gupta AS.

medRxiv [Preprint]. 2025 Jan 17:2025.01.13.25320487. doi: 10.1101/2025.01.13.25320487.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis

Matsugi A, Bando K, Kondo Y, Kikuchi Y, Miyata K, Hiramatsu Y, Yamanaka Y, Tanaka H, Okuda Y, Haruyama K, Yamasaki Y.

Front Neurol. 2025 Jan 10;15:1491142. doi: 10.3389/fneur.2024.1491142. eCollection 2024.