Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
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...
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Thieme Revinter Publicações
2021-01-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001000912&tlng=en |
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| author | Wladimir Bocca Vieira de Rezende Pinto Paulo Victor Sgobbi de Souza Bruno Mattos Lombardi Badia Igor Braga Farias José Marcos Vieira de Albuquerque Filho Eduardo Augusto Gonçalves Roberta Ismael Lacerda Machado Acary Souza Bulle Oliveira |
| author_facet | Wladimir Bocca Vieira de Rezende Pinto Paulo Victor Sgobbi de Souza Bruno Mattos Lombardi Badia Igor Braga Farias José Marcos Vieira de Albuquerque Filho Eduardo Augusto Gonçalves Roberta Ismael Lacerda Machado Acary Souza Bulle Oliveira |
| author_sort | Wladimir Bocca Vieira de Rezende Pinto |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-083be35c8d644fd6bbe176abec3f7d82 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-083be35c8d644fd6bbe176abec3f7d822025-08-20T02:01:35ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272021-01-01791091292310.1590/0004-282x-anp-2020-0429Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive reviewWladimir Bocca Vieira de Rezende Pintohttps://orcid.org/0000-0002-0150-525XPaulo Victor Sgobbi de Souzahttps://orcid.org/0000-0002-7416-7108Bruno Mattos Lombardi Badiahttps://orcid.org/0000-0001-7360-0494Igor Braga Fariashttps://orcid.org/0000-0003-2187-6573José Marcos Vieira de Albuquerque Filhohttps://orcid.org/0000-0002-4533-2637Eduardo Augusto Gonçalveshttps://orcid.org/0000-0002-9893-2468Roberta Ismael Lacerda Machadohttps://orcid.org/0000-0002-5842-0062Acary Souza Bulle Oliveirahttps://orcid.org/0000-0002-6986-4937Abstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001000912&tlng=enMuscular Atrophy, SpinalNeurodegenerative DiseasesMotor Neuron DiseaseNeuromuscular Diseases |
| spellingShingle | Wladimir Bocca Vieira de Rezende Pinto Paulo Victor Sgobbi de Souza Bruno Mattos Lombardi Badia Igor Braga Farias José Marcos Vieira de Albuquerque Filho Eduardo Augusto Gonçalves Roberta Ismael Lacerda Machado Acary Souza Bulle Oliveira Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review Arquivos de Neuro-Psiquiatria Muscular Atrophy, Spinal Neurodegenerative Diseases Motor Neuron Disease Neuromuscular Diseases |
| title | 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_short | Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review |
| title_sort | adult onset non 5q proximal spinal muscular atrophy a comprehensive review |
| topic | Muscular Atrophy, Spinal Neurodegenerative Diseases Motor Neuron Disease Neuromuscular Diseases |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001000912&tlng=en |
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