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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2016-03-01
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doaj-b162f1fc1f68438ab754b2c10195cc5f2020-11-24T21:27:12ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272016-03-0174324425210.1590/0004-282X20160038S0004-282X2016000300012Current concepts in the treatment of hereditary ataxiasPedro Braga NetoJosé Luiz PedrosoSheng-Han KuoC. França Marcondes JuniorHélio Afonso Ghizoni TeiveOrlando Graziani Povoas BarsottiniABSTRACT 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012&lng=en&tlng=enataxias hereditáriastratamentoterapia de reabilitaçãoterapia modificadora da doença |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Pedro Braga Neto José Luiz Pedroso Sheng-Han Kuo C. França Marcondes Junior Hélio Afonso Ghizoni Teive Orlando Graziani Povoas Barsottini |
spellingShingle |
Pedro Braga Neto José Luiz Pedroso Sheng-Han Kuo C. França Marcondes Junior Hélio Afonso Ghizoni Teive Orlando Graziani Povoas Barsottini Current concepts in the treatment of hereditary ataxias Arquivos de Neuro-Psiquiatria ataxias hereditárias tratamento terapia de reabilitação terapia modificadora da doença |
author_facet |
Pedro Braga Neto José Luiz Pedroso Sheng-Han Kuo C. França Marcondes Junior Hélio Afonso Ghizoni Teive Orlando Graziani Povoas Barsottini |
author_sort |
Pedro Braga Neto |
title |
Current concepts in the treatment of hereditary ataxias |
title_short |
Current concepts in the treatment of hereditary ataxias |
title_full |
Current concepts in the treatment of hereditary ataxias |
title_fullStr |
Current concepts in the treatment of hereditary ataxias |
title_full_unstemmed |
Current concepts in the treatment of hereditary ataxias |
title_sort |
current concepts in the treatment of hereditary ataxias |
publisher |
Academia Brasileira de Neurologia (ABNEURO) |
series |
Arquivos de Neuro-Psiquiatria |
issn |
1678-4227 |
publishDate |
2016-03-01 |
description |
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. |
topic |
ataxias hereditárias tratamento terapia de reabilitação terapia modificadora da doença |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012&lng=en&tlng=en |
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