Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic lateral sclerosis (JALS) [DS:H00058] and juvenile primary lateral sclerosis (JPLS) [DS:H00970]. IAHSP can be distinguished from those two disorders by the association of an infantile onset, at the age of walking achievement, with an ascending progression during childhood but a long survival during adulthood.
Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Muller U
タイトル
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
