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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG6
Location 15q11.2
HGNC id 11236
Name spastic paraplegia 6
Other name(s) familial spastic paraplegia, autosomal dominant, 3
Corresponding gene NIPA1
Other symbol(s) FSP3
Main clinical features
  • uncomplicated, Strumpell-Lorrain type, rare form
  • late-adolescent, early-adult onset, slowly progressive, hyperreflexia and spasticity in the lower limbs, weakness of hip flexion and ankle dorsiflexion, extensor plantar responses, diminished vibratory sense in the feet, and pes cavus
  • rarely complicated by epilepsy or variable peripheral neuropathy
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name SPG6 gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function located in the third transmembrane domain of the protein, disrupting this structure and causing the intramembrane loop to descend into the cytoplasm
    missense   abnormal protein/loss of function T45R and G106R mutations resulted in altered intracellular trafficking and diminished Mg2+ transport suggesting a role in the phenotype
    Remark(s)