| Literature DB >> 27050855 |
Pedro Braga Neto1, José Luiz Pedroso2, Sheng-Han Kuo3, C França Marcondes Junior4, Hélio Afonso Ghizoni Teive5, Orlando Graziani Povoas Barsottini2.
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.Entities:
Mesh:
Year: 2016 PMID: 27050855 PMCID: PMC6089349 DOI: 10.1590/0004-282X20160038
Source DB: PubMed Journal: Arq Neuropsiquiatr ISSN: 0004-282X Impact factor: 1.420