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References OMIM Gene GeneReviews HGMD HGNC
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