Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.
Arq Neuropsiquiatr
; 71(10): 788-90, 2013 Oct.
Article
em En
| MEDLINE
| ID: mdl-24212516
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Proteínas de Transporte Vesicular
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arq Neuropsiquiatr
Ano de publicação:
2013
Tipo de documento:
Article
País de publicação:
Alemanha