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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG53
Location 8p22
Name early-onset complex autosomal recessive spastic paraplegia-53
Other name(s) complex hereditary spastic paraparesis (CHSP) type 53
Corresponding gene VPS37A
Other symbol(s) FLJ32642, HCRP1, PQBP2
Main clinical features
  • early onset spastic paraparesis of upper and lower limbs, mild
    • intellectual disability, kyphosis, pectus carinatum, and hypertrichosis, whereas brain and spinal cord MRI are normal PMID:22717650
  • developmental delay, progressive lower extremity spasticity, and subsequently progressive upper extremity involvement; associated with skeletal dysmorphism (kyphosis and pectus carinatum)
  • mild to moderate cognitive impairment; and variable hypertrichosis and impaired vibration sensation
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name . vacuolar protein sorting 37 homolog A (S. cerevisiae)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown c.1146A>T, p.K382N PMID:22717650
    Remark(s)