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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-12-2018
Symbol SPAX2
Location 17p13.2
Name spastic ataxia 2
Corresponding gene KIF1C
Other symbol(s) SAX2, SPG58
Main clinical features
  • progressive cerebellar ataxia that started at 14 years of age with dysarthria, spasticity in all limbs and pyramidal signs, fasciculations in upper and/or lower limbs with involvement of upper and lowermotor neurons
  • no skeletal deformities, sphincter disturbances, extra-pyramidal signs or cognitive impairment
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease