Spastic tetraplegia and axial hypotonia, progressive (STAHP), is a severe neurological syndrome characterized by infantile-onset progressive motor function loss, axial hypotonia, and spastic tetraparesis. It has been reported that loss-of-function mutations in SOD1 cause this syndrome. SOD1 is the principal cytoplasmic superoxide dismutase in humans and plays a major role in regulating redox potential.
Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Gruneberg M, Seelhofer A, Schara U, Boltshauser E, Spitz DR, Marquardt T
タイトル
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
