Artículos por temáticas

Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study

Beichert L, Seemann J, Kessler C, Traschütz A, Müller D, Dillmann-Jehn K, Ricca I, Satolli S, Basak NA, Coarelli G, Timmann D, Gagnon C, van de Warrenburg BPC; PROSPAX Consortium; Ilg W, Synofzik M, S

Neurology. 2024 Dec 24;103(12):e209887. doi: 10.1212/WNL.0000000000209887. Epub 2024 Dec 2.

Dystonic Tremor as the Clinical Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome

Garcia-Campos C, Pareés I, Kurtis MM.

Mov Disord Clin Pract. 2024 Dec;11(12):1629-1631. doi: 10.1002/mdc3.14208. Epub 2024 Sep 13.

Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant

Mohammadi MF, Tehrani Fateh S, Ganji M, Mohammadi P, Bahrami T, Ashrafi MR, Hosseinpour S, Heidari M, Garshasbi M, Tavasoli AR.

Acta Neurol Belg. 2024 Dec;124(6):1959-1972. doi: 10.1007/s13760-024-02611-z. Epub 2024 Aug 15.

Gray Matter Asymmetry Alterations in Patients With Spinocerebellar Ataxia Type 3: A Voxel-Based Morphometric Comparison Study

Shi L, Ou L, Ou P, Deng L, Huang Y, Wang X, Gui L, Wang B, Dai L, Ma G, Wang J, Liu C.

CNS Neurosci Ther. 2024 Dec;30(12):e70171. doi: 10.1111/cns.70171.

An atypical presentation of Wernicke-Korsakoff encephalopathy mimicking a left hemispheric stroke: case report

Butnariu I, Anghel DN, Ciobanu AM, Cojocaru F, Antonescu-Ghelmez D, Manea MM, Antonescu F.

Front Psychiatry. 2024 Dec 20;15:1499803. doi: 10.3389/fpsyt.2024.1499803. eCollection 2024.

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature

Baysal Bakır D, Asilsoy S, Uzuner N, Yağmur H, Kabadayı G, Torun R, Kızıldağ Karabacak Z, Işık E, Süncak S.

Immunol Res. 2024 Dec;72(6):1432-1440. doi: 10.1007/s12026-024-09541-1. Epub 2024 Sep 19.

Lafora Disease Presenting with Ataxia and DM1: A Case Study

Khanalizadeh R, Karimi K.

Acta Neurol Taiwan. 2024 Dec 30;33(4):181-183.

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course

Bhattacharjee S, Lenassi E, Taylor RW, Schaefer AM, Ealing J, Kobylecki C.

J Neurol. 2024 Dec 12;272(1):17. doi: 10.1007/s00415-024-12778-3.

Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease

Zochowski Y, Kumar KR, Katz M, Darveniza P, Tchan M, Smyth R, Tomlinson S, Wu KHC, Tisch S.

Cerebellum. 2024 Dec 16;24(1):13. doi: 10.1007/s12311-024-01762-2.

(18)F-DPA714 PET/MRI as a potential imaging tool for detecting possible antibody-negative autoimmune encephalitis: a prospective study

Meng H, He L, Chunyu H, Zhou Q, Wang J, Qu Q, Hai W, Zhang Y, Li B, Zhang M, Chen S.

J Neurol. 2024 Dec;271(12):7592-7604. doi: 10.1007/s00415-024-12690-w. Epub 2024 Sep 19.

Cerebellar syndrome: do not miss anti-Tr antibodies testing

Bacharis A, Parisis D, Afrantou T, Grigoriadis N, Ioannidis P.

Acta Neurol Belg. 2024 Dec;124(6):2005-2007. doi: 10.1007/s13760-024-02562-5. Epub 2024 May 8.

Acute Cerebellar Manifestations without Limbic Involvement in GABA(B) Receptor Autoimmune Encephalitis: Case Report and Literature Review

Yasumoto T, Onizawa K, Mori S, Obi T, Keicho M, Watanabe S, Nabeshima Y, Komuro H, Takahashi S, Futamura A, Baba Y, Kinno R.

Cerebellum. 2024 Dec;23(6):2650-2654. doi: 10.1007/s12311-024-01729-3. Epub 2024 Aug 13.

Glutamic Acid Decarboxylase 65 Antibody-associated Epilepsy and Diplopia: Two Case Reports with Literature Review

Chen B, Shi Y, Guo J, Qiu Z, Shen B, Jiang L, Fang J.

Cerebellum. 2024 Dec 11;24(1):9. doi: 10.1007/s12311-024-01768-w.

Tiny infarction of rostral cerebellum manifested by contralesional body lateropulsion

Alalousi O, Bonnan M.

eNeurologicalSci. 2024 Aug 30;37:100523. doi: 10.1016/j.ensci.2024.100523. eCollection 2024 Dec.

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder

Mertens A, Papadopoulou MT, Papathanasiou Terzi MA, Lesca G, Biela M, Smigiel R, Panagiotakaki E.

Epileptic Disord. 2024 Dec;26(6):847-852. doi: 10.1002/epd2.20272. Epub 2024 Sep 5.