Spinal muscular atrophy: a timely review
SJ Kolb, JT Kissel - Archives of neurology, 2011 - jamanetwork.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of
motor neurons in the anterior horn of the spinal cord and resultant weakness. The most
common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA
associated with mutations in the survival of motor neurons (SMN1) gene. Relentless
progress during the past 15 years in the understanding of the molecular genetics and
pathophysiology of SMA has resulted in a unique opportunity for rational, effective …
motor neurons in the anterior horn of the spinal cord and resultant weakness. The most
common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA
associated with mutations in the survival of motor neurons (SMN1) gene. Relentless
progress during the past 15 years in the understanding of the molecular genetics and
pathophysiology of SMA has resulted in a unique opportunity for rational, effective …