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GENATLAS PHENOTYPE

last update : 02-07-2021

Symbol	SPG31
Location	2p11.2
Name	spastic paraplegia 31
Corresponding gene	REEP1
Main clinical features	typical signs of spastic paraplegia mainly characterized by proximal weakness of the lower extremities with brisk reflexes and spastic gait abnormalities, normal tone of the upper extremities and only very mild weakness of the small hand muscles, no abnormalities of sensory system but early onset (20 years) may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy (Hewamadduma 2009)
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)