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GENATLAS PHENOTYPE

last update : 02-06-2016

Symbol	SPG76
Location	11q13.1
Name	spastic paraplegia 76
Corresponding gene	CAPN1
Main clinical features	neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties associated with upper limb involvement and additional features such as foot deformities and dysarthria, additional neurological symptoms in addition to the typical spasticity of the lower limbs, such as upper-extremity hyperreflexia
Genetic determination	autosomal recessive
Prevalence	2.2 p100 of the affected individuals
Function/system disorder	neurology
Type	disease

Remark(s)