Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Brain
; 137(Pt 11): 2879-96, 2014 Nov.
Article
em En
| MEDLINE
| ID: mdl-24970098
ABSTRACT
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a growing number of clinical conditions designated as non-5q forms of spinal muscular atrophy. At present, 16 different genes and one unresolved locus are associated with proximal non-5q forms, having high phenotypic variability and diverse inheritance patterns. This review provides an overview of the current knowledge regarding the phenotypes, causative genes, and disease mechanisms associated with proximal SMN1-negative spinal muscular atrophies. We describe the molecular and cellular functions enriched among causative genes, and discuss the challenges in the post-genomics era of spinal muscular atrophy research.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Idade de Início
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Brain
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Bélgica