Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil
Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physica...
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| Language: | English |
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Thieme Revinter Publicações
2013-10-01
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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=S0004-282X2013001100788&lng=en&tlng=en |
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| author | Victor Kosac Marcos R. G. de Freitas Frederico M. Prado Osvaldo J. M. Nascimento Caroline Bittar |
| author_facet | Victor Kosac Marcos R. G. de Freitas Frederico M. Prado Osvaldo J. M. Nascimento Caroline Bittar |
| author_sort | Victor Kosac |
| collection | DOAJ |
| description | Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil. |
| format | Article |
| id | doaj-art-239cc2e2581b4119b90ed9e41108c42e |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2013-10-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-239cc2e2581b4119b90ed9e41108c42e2025-08-20T02:04:15ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272013-10-01711078879010.1590/0004-282X20130123S0004-282X2013001100788Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in BrazilVictor KosacMarcos R. G. de FreitasFrederico M. PradoOsvaldo J. M. NascimentoCaroline BittarFamilial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013001100788&lng=en&tlng=enatrofia muscular progressiva familiargene VAPBgenetica |
| spellingShingle | Victor Kosac Marcos R. G. de Freitas Frederico M. Prado Osvaldo J. M. Nascimento Caroline Bittar Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil Arquivos de Neuro-Psiquiatria atrofia muscular progressiva familiar gene VAPB genetica |
| title | Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil |
| title_full | Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil |
| title_fullStr | Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil |
| title_full_unstemmed | Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil |
| title_short | Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil |
| title_sort | familial adult spinal muscular atrophy associated with the vapb gene report of 42 cases in brazil |
| topic | atrofia muscular progressiva familiar gene VAPB genetica |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013001100788&lng=en&tlng=en |
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