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Review
. 2016 Mar;74(3):244-52.
doi: 10.1590/0004-282X20160038.

Current concepts in the treatment of hereditary ataxias

Pedro Braga Neto  1 , José Luiz Pedroso  2 , Sheng-Han Kuo  3 , C França Marcondes Junior  4 , Hélio Afonso Ghizoni Teive  5 , Orlando Graziani Povoas Barsottini  2
Affiliations
Review

Current concepts in the treatment of hereditary ataxias

Pedro Braga Neto et al. Arq Neuropsiquiatr. 2016 Mar.

Abstract
in English, Portuguese

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.

As ataxias hereditârias represent um grupo complexo de doenças neurodegenerativas, e se caracterizam por ataxia cerebelar progressiva, associada a sinais e sintomas extra-cerebelares e sistêmicos, os quais incluem: neuropatia periférica, sinais piramidais, distúrbios do movimento, convulsões e disfunção cognitiva. Não existe um tratamento efetivo para a cura das ataxias hereditârias. Até o momento os tratamentos disponiveis sâo apenas sintomâticos. Nesta revisâo vamos abordar tratamento sintomâtico das principals ataxias autossômicas recessivas, ataxias autossômicas dominantes, ataxias ligadas ao X e ataxias mitocondriais. Descrevemos os diferentes sintomas, abordagens terapêuticas baseadas no mecanismo fisiopatolôgico, terapia de reabilitaçâo, terapia modificadora da doença, futures ensaios clinicos, perspectivas, niveis de evidência, aconselhamento genético e diagnôstico genético pré-implantacional.

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Conflict of interest statement

Conflict of interest: There is no conflict of interest to declare.

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