Current concepts in the treatment of hereditary ataxias
Autor(a) principal: | |
---|---|
Data de Publicação: | 2016 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012 |
Resumo: | 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. |
id |
ABNEURO-1_04f0e93113b1fc93f073fe08e63ae51d |
---|---|
oai_identifier_str |
oai:scielo:S0004-282X2016000300012 |
network_acronym_str |
ABNEURO-1 |
network_name_str |
Arquivos de neuro-psiquiatria (Online) |
repository_id_str |
|
spelling |
Current concepts in the treatment of hereditary ataxiashereditary ataxiastreatmentrehabilitation therapydisease modifying therapyABSTRACT 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.Academia Brasileira de Neurologia - ABNEURO2016-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012Arquivos de Neuro-Psiquiatria v.74 n.3 2016reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20160038info:eu-repo/semantics/openAccessBraga Neto,PedroPedroso,José LuizKuo,Sheng-HanMarcondes Junior,C. FrançaTeive,Hélio Afonso GhizoniBarsottini,Orlando Graziani Povoaseng2016-03-23T00:00:00Zoai:scielo:S0004-282X2016000300012Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2016-03-23T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Current concepts in the treatment of hereditary ataxias |
title |
Current concepts in the treatment of hereditary ataxias |
spellingShingle |
Current concepts in the treatment of hereditary ataxias Braga Neto,Pedro hereditary ataxias treatment rehabilitation therapy disease modifying therapy |
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 |
author |
Braga Neto,Pedro |
author_facet |
Braga Neto,Pedro Pedroso,José Luiz Kuo,Sheng-Han Marcondes Junior,C. França Teive,Hélio Afonso Ghizoni Barsottini,Orlando Graziani Povoas |
author_role |
author |
author2 |
Pedroso,José Luiz Kuo,Sheng-Han Marcondes Junior,C. França Teive,Hélio Afonso Ghizoni Barsottini,Orlando Graziani Povoas |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Braga Neto,Pedro Pedroso,José Luiz Kuo,Sheng-Han Marcondes Junior,C. França Teive,Hélio Afonso Ghizoni Barsottini,Orlando Graziani Povoas |
dc.subject.por.fl_str_mv |
hereditary ataxias treatment rehabilitation therapy disease modifying therapy |
topic |
hereditary ataxias treatment rehabilitation therapy disease modifying therapy |
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. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-03-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000300012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282X20160038 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.74 n.3 2016 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
_version_ |
1754212780022431744 |