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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG11
Location 15q21.1
Name spastic paraplegia 11
Other name(s) Kjellin syndrome
Corresponding gene SPG11
Main clinical features
  • spastic paraplegia, with mental impairment and thin corpus callosum
  • disease onset during the first three decades of life with spastic paraplegia and mental impairment
  • complicated spastic paraplegia associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease, associated to central retinal degeneration
    • Genetic determination autosomal recessive
    Prevalence 50 p100 of autosomal recessive spastic paraplegia
    Related entries . including complicated forms with mental retardation and hypoplasia of corpus callosum
    Function/system disorder neurology
    Type disease
    Gene product
    Name spatacsin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function  
    Remark(s)