Artículos por temáticas

Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies

Venturiello D, Tiberi PG, Perulli F, Nardoianni G, Guida L, Barsali C, Terrone C, Cianca A, Lustri C, Sclafani M, Tini G, Barbato E, Musumeci B.

Int J Mol Sci. 2024 Dec 6;25(23):13147. doi: 10.3390/ijms252313147.

Clinical diagnosis and management of spinocerebellar ataxia in a resource-constrained setting: a case report from Eastern Nepal

Adhikari N, Pokhrel P, Kc P, Kumar Sah N, Shah B.

Ann Med Surg (Lond). 2024 Oct 16;86(12):7385-7389. doi: 10.1097/MS9.0000000000002654. eCollection 2024 Dec.

Systematic Review and Meta-Analysis of the Diagnostic Accuracy of a Graded Gait and Truncal Instability Rating in Acutely Dizzy and Ataxic Patients

Martinez C, Wang Z, Zalazar G, Carmona S, Kattah J, Tarnutzer AA.

Cerebellum. 2024 Dec;23(6):2244-2256. doi: 10.1007/s12311-024-01718-6. Epub 2024 Jul 11.

Dilemma in differentiation of spinocerebellar ataxia type 17 from Huntington's disease: comorbidity or independent disease?

An L, Yao S, Liu J, Qi X, Duan F, Sun C.

Int J Neurosci. 2024 Dec;134(12):1564-1568. doi: 10.1080/00207454.2023.2273766. Epub 2023 Oct 31.

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.

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.

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.

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.