title: Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
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.
authors: 1 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen 2610, Belgium 2 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium albena.jordanova@molgen.vib-ua.be.
authors: Kristien
authors: K
authors: Peeters
authors: 3 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria albena.jordanova@molgen.vib-ua.be.
authors: Teodora
authors: T
authors: Chamova
authors: 1 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen 2610, Belgium 2 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 4 Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Sofia 1431, Bulgaria.
authors: Albena
authors: A
authors: Jordanova
mesh_terms: D017668:Age of Onset; D000818:Animals; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000235:genetics / Q000503:physiopathology
keywords: SMA; clinical characteristics; molecular genetics