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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG44
Location	1q42.13
Name	spastic paraplegia 44
Corresponding gene	GJC2
Main clinical features	late onset (first and second decades), cognitive impairment, slowly progressive, spastic paraplegia, dysarthria, and upper extremity involvement lower limb spasticity, spastic gait, extensor plantar responses, hyperreflexia, and pes cavus MRI and MR spectroscopy imaging consistent with a hypomyelinating leukoencephalopathy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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