Current concepts in the treatment of hereditary ataxias

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 disord...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2016-03, Vol.74 (3), p.244-252
Main Authors: Braga, Pedro, Pedroso, José Luiz, Kuo, Sheng-Han, Marcondes, C. França, Teive, Hélio Afonso Ghizoni, Barsottini, Orlando Graziani Povoas
Format: Article
Language:English
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
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Summary: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.
ISSN:0004-282X
1678-4227
1678-4227
0004-282X
DOI:10.1590/0004-282X20160038