Artículos de revistas
Current Concepts In The Treatment Of Hereditary Ataxias
Registro en:
Arquivos De Neuro-psiquiatria. Assoc Arquivos Neuro- Psiquiatria, v. 74, p. 244 - 252, 2016.
0004-282X
1678-4227
WOS:000374191900012
10.1590/0004-282X20160038
Autor
Braga-Neto
Pedro; Pedroso
Jose Luiz; Kuo
Sheng-Han; Franca Junior
Marcondes C.; Ghizoni Teive
Helio Afonso; Povoas Barsottini
Orlando Graziani
Institución
Resumen
Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis. 74 3 244 252