article
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
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Autor
Godeiro Junior, Clécio de Oliveira
Gama, Maria Thereza D.
Braga-Neto, Pedro
Rangel, Deborah M.
Silva, Rodrigo de Alencar e
Embiruçu, Emília K.
Cornejo-Olivas, Mario
Sarapura-Castro, Elison
Awad, Paula Saffie
Chesta, Daniela Muñoz
Kauffman, Marcelo
Quiroga, Sergio Rodriguez
Jardim, Laura B.
Graça, Felipe F. da
França Junior, Marcondes C.
Tomaselli, Pedro J.
Marques Junior, Wilson
Teive, Helio A.G.
Barsottini, Orlando G.P.
Pedroso, José Luiz
Synofzik, Matthis
Resumen
Autosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genes