Current concepts in the treatment of hereditary ataxias

• Main Authors: Pedro Braga Neto, José Luiz Pedroso, Sheng-Han Kuo, C. França Marcondes Junior, Hélio Afonso Ghizoni Teive, Orlando Graziani Povoas Barsottini
• Format: Article
• Language: English
• Published: Academia Brasileira de Neurologia (ABNEURO) 2016-03-01
• Series: Arquivos de Neuro-Psiquiatria
• Subjects: ataxias hereditárias; tratamento; terapia de reabilitação; terapia modificadora da doença
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012&lng=en&tlng=en

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.