Current concepts in the treatment of hereditary ataxias

Current concepts in the treatment of hereditary ataxias

Author Braga-Neto, Pedro Autor UNIFESP Google Scholar
Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Kuo, Sheng-Han Google Scholar
Franca Junior, Marcondes C. Google Scholar
Ghizoni Teive, Helio Afonso Google Scholar
Povoas Barsottini, Orlando Graziani Autor UNIFESP Google Scholar
Abstract 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.
Keywords hereditary ataxias
rehabilitation therapy
disease modifying therapy
xmlui.dri2xhtml.METS-1.0.item-coverage Sao Paulo Sp
Language English
Date 2016
Published in Arquivos De Neuro-Psiquiatria. Sao Paulo Sp, v. 74, n. 3, p. 244-252, 2016.
ISSN 0004-282X (Sherpa/Romeo, impact factor)
Publisher Assoc Arquivos Neuro- Psiquiatria
Extent 244-252
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000374191900012
SciELO ID S0004-282X2016000300012 (statistics in SciELO)

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