Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 13/11/2007
Symbol SPG5A
Location 8q12.3
HGNC id 11234
Name spastic paraplegia 5A
Corresponding gene CYP7B1
Other symbol(s) SPG5
Main clinical features
  • pure autosomal recessive form . spastic paraparesis associated with deep sensory loss, and in several patients with long disease durations, there were also mild cerebellar signs
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
  • neurodegeneration associated with the CYP7B1 mutation may also be associated with a loss of neuroprotective function of DHEA-related neurosteroids