Infantile-onset ascending hereditary spastic paralysis

Definition:

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.

References:

[1]. Eleonore Eymard-Pierre, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 2002 Sep;71(3):518-27. [Content Brief]

[2]. Thilo Herzfeld, et al. 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). Neurogenetics. 2009 Feb;10(1):59-64. [Content Brief]

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