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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG42
Location 3q25.31
Name spastic paraplegia 42
Corresponding gene SLC33A1
Main clinical features
  • progressive and bilateral spasticity of the legs
  • variable features included dysarthria, ankle clonus, and increased muscle tone in the lower limbs
  • uncomplicated
  • onset age 440 years, possibly one instance of incomplete penetrance
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) mutation disrupting the second transmembrane domain in the transporter and reverses the orientation of all of the descending domains