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.
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Academia Brasileira de Neurologia - ABNEURO
2016
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oai:scielo:S0004-282X20160003000122016-03-23Current concepts in the treatment of hereditary ataxiasBraga Neto,PedroPedroso,José LuizKuo,Sheng-HanMarcondes Junior,C. FrançaTeive,Hélio Afonso GhizoniBarsottini,Orlando Graziani Povoas hereditary ataxias treatment rehabilitation therapy disease modifying therapy 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.74 n.3 20162016-03-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012en10.1590/0004-282X20160038 |
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Braga Neto,Pedro Pedroso,José Luiz Kuo,Sheng-Han Marcondes Junior,C. França Teive,Hélio Afonso Ghizoni Barsottini,Orlando Graziani Povoas |
| spellingShingle |
Braga Neto,Pedro Pedroso,José Luiz Kuo,Sheng-Han Marcondes Junior,C. França Teive,Hélio Afonso Ghizoni Barsottini,Orlando Graziani Povoas Current concepts in the treatment of hereditary ataxias |
| author_facet |
Braga Neto,Pedro Pedroso,José Luiz Kuo,Sheng-Han Marcondes Junior,C. França Teive,Hélio Afonso Ghizoni Barsottini,Orlando Graziani Povoas |
| author_sort |
Braga Neto,Pedro |
| 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 |
| 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. |
| publisher |
Academia Brasileira de Neurologia - ABNEURO |
| publishDate |
2016 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012 |
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1756374690814754816 |