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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 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.

SUBMITTER: Braga Neto P

PROVIDER: S-EPMC6089349 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Current concepts in the treatment of hereditary ataxias.

Braga Neto Pedro P Pedroso José Luiz JL Kuo Sheng-Han SH Marcondes Junior C França CF Teive Hélio Afonso Ghizoni HA Barsottini Orlando Graziani Povoas OG

Arquivos de neuro-psiquiatria 20160301 3

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 autos ...[more]

PMID: 27050855

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