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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG1
Location Xq28
HGNC id 11224
Name X-linked spastic paraplegia
Corresponding gene L1CAM
Other symbol(s) SPPX1, XSP
Main clinical features
  • upper motor neuron syndrome, with insidiously progressive lower extremity spasticity
  • neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus
  • associated with mental retardation, and variably, hydrocephalus, aphasia, and adducted thumbs
  • Genetic determination sex linked
    Related entries MASA, CRASH, HSAS
    Function/system disorder neurology
    Type disease
    Gene product
    Name L1 cell adhesion molecule (L1CAM)
    Remark(s)