Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
Autor(a) principal: | |
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Data de Publicação: | 2021 |
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=S0004-282X2021001000912 |
Resumo: | Abstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical review summarizing adult-onset proximal SMA presentations. Results: Previously limited to cases of SMN1-related SMA type 4 (adult form), this group has now more than 15 different clinical conditions that have in common the symmetrical and progressive compromise of lower motor neurons starting in adulthood or elderly stage. New clinical and genetic subtypes of adult-onset proximal SMA have been recognized and are currently target of wide neuroradiological, pathological, and genetic studies. Conclusions: This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype. |
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Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive reviewMuscular Atrophy, SpinalNeurodegenerative DiseasesMotor Neuron DiseaseNeuromuscular DiseasesAbstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical review summarizing adult-onset proximal SMA presentations. Results: Previously limited to cases of SMN1-related SMA type 4 (adult form), this group has now more than 15 different clinical conditions that have in common the symmetrical and progressive compromise of lower motor neurons starting in adulthood or elderly stage. New clinical and genetic subtypes of adult-onset proximal SMA have been recognized and are currently target of wide neuroradiological, pathological, and genetic studies. Conclusions: This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype.Academia Brasileira de Neurologia - ABNEURO2021-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001000912Arquivos de Neuro-Psiquiatria v.79 n.10 2021reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282x-anp-2020-0429info:eu-repo/semantics/openAccessPinto,Wladimir Bocca Vieira de RezendeSouza,Paulo Victor Sgobbi deBadia,Bruno Mattos LombardiFarias,Igor BragaAlbuquerque Filho,José Marcos Vieira deGonçalves,Eduardo AugustoMachado,Roberta Ismael LacerdaOliveira,Acary Souza Bulleeng2021-10-21T00:00:00Zoai:scielo:S0004-282X2021001000912Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2021-10-21T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
title |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
spellingShingle |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review Pinto,Wladimir Bocca Vieira de Rezende Muscular Atrophy, Spinal Neurodegenerative Diseases Motor Neuron Disease Neuromuscular Diseases |
title_short |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
title_full |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
title_fullStr |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
title_full_unstemmed |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
title_sort |
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
author |
Pinto,Wladimir Bocca Vieira de Rezende |
author_facet |
Pinto,Wladimir Bocca Vieira de Rezende Souza,Paulo Victor Sgobbi de Badia,Bruno Mattos Lombardi Farias,Igor Braga Albuquerque Filho,José Marcos Vieira de Gonçalves,Eduardo Augusto Machado,Roberta Ismael Lacerda Oliveira,Acary Souza Bulle |
author_role |
author |
author2 |
Souza,Paulo Victor Sgobbi de Badia,Bruno Mattos Lombardi Farias,Igor Braga Albuquerque Filho,José Marcos Vieira de Gonçalves,Eduardo Augusto Machado,Roberta Ismael Lacerda Oliveira,Acary Souza Bulle |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Pinto,Wladimir Bocca Vieira de Rezende Souza,Paulo Victor Sgobbi de Badia,Bruno Mattos Lombardi Farias,Igor Braga Albuquerque Filho,José Marcos Vieira de Gonçalves,Eduardo Augusto Machado,Roberta Ismael Lacerda Oliveira,Acary Souza Bulle |
dc.subject.por.fl_str_mv |
Muscular Atrophy, Spinal Neurodegenerative Diseases Motor Neuron Disease Neuromuscular Diseases |
topic |
Muscular Atrophy, Spinal Neurodegenerative Diseases Motor Neuron Disease Neuromuscular Diseases |
description |
Abstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical review summarizing adult-onset proximal SMA presentations. Results: Previously limited to cases of SMN1-related SMA type 4 (adult form), this group has now more than 15 different clinical conditions that have in common the symmetrical and progressive compromise of lower motor neurons starting in adulthood or elderly stage. New clinical and genetic subtypes of adult-onset proximal SMA have been recognized and are currently target of wide neuroradiological, pathological, and genetic studies. Conclusions: This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-10-01 |
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=S0004-282X2021001000912 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001000912 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282x-anp-2020-0429 |
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.79 n.10 2021 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 |
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