Arquivos de Neuro-Psiquiatria, Table of Contents CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(11): s00441800927DOI: 10.1055/s-0044-1800927 Editorial The effects of disease-modifying therapies in SMA-5q type 1 and the importance of early diagnosis of the diseaseOs efeitos das terapias modificadoras da doença na atrofia muscular espinhal 5q do tipo 1 e a importância do diagnóstico precoce da doença Edmar Zanoteli 1 Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil. › Author AffiliationsRecommend Article Abstract Bibliographical RecordEdmar Zanoteli. The effects of disease-modifying therapies in SMA-5q type 1 and the importance of early diagnosis of the disease. Arq Neuropsiquiatr 2024; 82: s00441800927. DOI: 10.1055/s-0044-1800927 Full Text References References 1 Lefebvre S, Bürglen L, Reboullet S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80 (01) 155-165 2 Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992; 2 (5-6): 423-428 3 Mendonça RH, Matsui Jr C, Polido GJ. et al. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurol Genet 2020; 6 (05) e505 4 Zanoteli E, Araujo APQC, Becker MM. et al. Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy. Arq Neuropsiquiatr 2024; 82 (01) 1-18 5 Mendonça RH, Polido GJ, Matsui C. et al. Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience. J Neuromuscul Dis 2021; 8 (01) 101-108 6 de Holanda Mendonça R, Jorge Polido G, Ciro M, Jorge Fontoura Solla D, Conti Reed U, Zanoteli E. Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen. J Neuromuscul Dis 2021; 8 (02) 217-224 7 Mendonça RH, Ortega AB, Matsui Jr C. et al. Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort. Gene Ther 2024; 31 (7-8): 391-399 8 Becker MM, Nardes F, Dangouloff T, Servais L, Araujo APQC, Gurgel-Giannetti J. Why should a 5q spinal muscular atrophy neonatal screening program be started?. Arq Neuropsiquiatr 2024; 82 (10) 1-9 9 Alves BKAMF, Araujo APQC, Santos FND, Ribeiro MG. Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies. Arq Neuropsiquiatr 2024; 82 (11) 1-8
