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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG2
Location	Xq22.2
HGNC id	11230
Name	spastic paraplegia 2
Corresponding gene	PLP1
Other symbol(s)	SPPX2, XSP
Main clinical features	late onset, uncomplicated, with spastic gait only in the pure form 'pure' spastic paraparesis, but the patients later developed nystagmus, dysarthria, sensory disturbance, and mental retardation, with half the patients having optic atrophy; later symptoms included muscle wasting, joint contractures, and a requirement for crutches or wheelchair by early adult life variably associated with MRI evidence of CNS white matter abnormality; may have peripheral neuropathy
Genetic determination	sex linked
Function/system disorder	neurology
Type	disease

Gene product

Name	proteolipid protein (PLP1), point mutations in non conserved residues

Remark(s)