Artículos por temáticas

Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial

Laurencin C, Poujois A, Bonjour M, Demily C, Klinger H, Roze E, Leclert V, Danaila T, Langlois-Jacques C, Couchonnal E, Woimant F, Obadia MA, Perez G, Pernon M, Blanchet L, Broussolle E, Vidailhet M,

Eur J Neurol. 2025 Jan;32(1):e16524. doi: 10.1111/ene.16524. Epub 2024 Oct 29.

Natural History of Dystonia in SYNE1 Ataxia: A Clinical, Imaging and Neurophysiological Observation

Jaques CS, Gama MTD, de Oliveira RA, Rezende TJR, Tonholo Silva TY, França MC Jr, Bezerra MLE, Barsottini OGP, Pedroso JL.

Mov Disord Clin Pract. 2025 Jan;12(1):100-104. doi: 10.1002/mdc3.14224. Epub 2024 Oct 9.

Efficacy comparison and outcome predictors of GPi- and STN-targeted deep brain stimulation for Meige syndrome: a systematic review of individual patient data

Xie H, Huang J, Diao Y, Yin Z, Wang S, Zhang Q, Shan M, Fan H, Zheng Z, Zhao Z, Zhu G, Jiang Y, Zhang J.

J Neurosurg. 2025 Jan 24:1-12. doi: 10.3171/2024.9.JNS241263. Online ahead of print.

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy

Alomarı O, Bebek O, Turkyilmaz A, Sager SG.

Seizure. 2025 Jan;124:35-38. doi: 10.1016/j.seizure.2024.11.009. Epub 2024 Nov 17.

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review

Magistrati M, Zupin L, Lamantea E, Baruffini E, Ghezzi D, Legati A, Celsi F, Murru FM, Capaci V, Pinamonti M, Bussani R, Carrozzi M, Dallabona C, Zeviani M, Bonati MT.

Int J Mol Sci. 2025 Jan 20;26(2):846. doi: 10.3390/ijms26020846.

Challenges in Describing Tremor and Dystonia

Shaikh AG, Fasano A, Pandey S, Helmich RC, Albanese A, Vidailhet M, Elble R, Fung VSC, Tijssen MA, Jeon BS, Hallett M, Jinnah HA.

Neurology. 2025 Jan 28;104(2):e210209. doi: 10.1212/WNL.0000000000210209. Epub 2024 Dec 26.

Comparison of different surgical strategies for cervical dystonia: Evidence from Bayesian network analysis

Qiu Y, Xue T, Bai Y, Han C, Xie M, Teng H, Yin Z, Chen Z, Zhang J, Wang Z.

Eur J Neurol. 2025 Jan;32(1):e16527. doi: 10.1111/ene.16527. Epub 2024 Nov 13.

DPPX antibody-mediated disease mimicking Wernicke's encephalopathy

Soliman Y, Irani N, O'Connor K.

BMJ Case Rep. 2025 Jan 2;18(1):e262573. doi: 10.1136/bcr-2024-262573.

Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient

Kacem I, Sghaier I, Ben Rhouma H, Ratti A, Ticozzi N, Silani V, Gouider-Khouja N, Gouider R.

Parkinsonism Relat Disord. 2025 Jan;130:107171. doi: 10.1016/j.parkreldis.2024.107171. Epub 2024 Oct 16.

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties

Maximiano-Alves G, do Amaral Moreto Caravelas R, Gonçalves TAP, Corniani KF, Nather JC, Geraldi-Tomaselli CV, Frezatti RSS, Fernandes RMF, Dos Santos AC, Marques W, Tomaselli PJ.

Neurogenetics. 2025 Jan 15;26(1):20. doi: 10.1007/s10048-025-00800-3.

Advanced Magnetic Resonance Imaging for Early Diagnosis and Monitoring of Movement Disorders

Ortega-Robles E, de Celis Alonso B, Cantillo-Negrete J, Carino-Escobar RI, Arias-Carrión O.

Brain Sci. 2025 Jan 16;15(1):79. doi: 10.3390/brainsci15010079.

Endometrioma patients are under-treated with endocrine endometriosis therapy

Cirkel C, Göbel H, Göbel C, Alkatout I, Khalil A, Brüggemann N, Rody A, Cirkel A.

Hum Reprod. 2025 Jan 1;40(1):69-76. doi: 10.1093/humrep/deae257.

A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report

Costa A, Pereira D, Malaquias MJ, Brandão AF, Oliveira J, Magalhães M.

Int J Mol Sci. 2025 Jan 19;26(2):809. doi: 10.3390/ijms26020809.

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report

Spracklen TF, Akhalwaya S, Ackermann S, Uggenti C, Seabra L, Crow YJ, Webb K.

Am J Med Genet A. 2025 Jan 2:e63978. doi: 10.1002/ajmg.a.63978. Online ahead of print.

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.