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GENATLAS PHENOTYPE

last update : 16-01-2009

Symbol	IAHSP
Location	2q33.1
Name	spastic paralysis, infantile onset ascending
Corresponding gene	ALS2
Main clinical features	severe spastic paralysis with an infantile onset and an ascending progression however compatible with long survival onset during the first 2 years of life and extended to upper limbs within the next few years progressing to tetraplegia, anarthria, dysphagia, and slow eye movements motor-evoked potentials and magnetic resonance imaging demonstrated a primitive, pure degeneration of the upper motor neurons
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name

alsin

Remark(s)