Current concepts in the treatment of hereditary ataxias

• Published in: Arquivos de neuro-psiquiatria Vol. 74; no. 3; pp. 244 - 252
• Main Authors: Braga, Pedro, Pedroso, José Luiz, Kuo, Sheng-Han, Marcondes, C. França, Teive, Hélio Afonso Ghizoni, Barsottini, Orlando Graziani Povoas
• Format: Journal Article
• Language: English
• Published: Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil Thieme Revinter Publicações Ltda 01-03-2016; Academia Brasileira de Neurologia - ABNEURO; Academia Brasileira de Neurologia (ABNEURO)
• Subjects: ataxias hereditárias; Genetic Counseling; Humans; NEUROSCIENCES; PSYCHIATRY; Spinocerebellar Degenerations - classification; Spinocerebellar Degenerations - genetics; Spinocerebellar Degenerations - therapy; terapia de reabilitação; terapia modificadora da doença; tratamento; VIEW AND REVIEW; treatment; disease modifying therapy; ataxias hereditárias; terapia modificadora da doença; terapia de reabilitação; tratamento; rehabilitation therapy; hereditary ataxias
• ISSN: 0004-282X; 1678-4227; 1678-4227; 0004-282X
• DOI: 10.1590/0004-282X20160038

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.