Arquivos de Neuro-Psiquiatria (Dec 2024)

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care

Rodrigo Holanda Mendonça,
Juliane Suellen Arndt de Godoi,
Edmar Zanoteli

Affiliations

Rodrigo Holanda Mendonça: ORCiD; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
Juliane Suellen Arndt de Godoi: ORCiD; Instituto Nacional da Atrofia Muscular Espinhal, São Paulo SP, Brazil.
Edmar Zanoteli: ORCiD; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.

DOI: https://doi.org/10.1055/s-0044-1792096
Journal volume & issue: Vol. 82, no. 12
pp. 001 – 009

Abstract

Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.

Published in Arquivos de Neuro-Psiquiatria

ISSN: 0004-282X (Print); 1678-4227 (Online)
Publisher: Thieme Revinter Publicações
Country of publisher: Brazil
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry
Website: https://www.scielo.br/j/anp/

About the journal