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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG3A
Location 14q21
Name spastic paraplegia 3A
Other name(s) Strumpell-Lorrain type
Corresponding gene ATL1
Other symbol(s) FSP, FSP1
Main clinical features
  • familial, pure, frequent early onset before age 20 years, uncommon form, long axonopathy, slowly progressive
  • often associated with a axonal sensory-motor neuropathy (PMID: 17502470))
  • characterized by progressive spasticity and weakness of the lower limbs due to a length-dependent abnormality of corticospinal axons (PMID: 21368113))
    • Genetic determination autosomal dominant
    Related entries . de novo mutation reported presenting as spastic diplegic cerebral palsy
    Function/system disorder neurology
    Type disease
    Gene product
    Name spastic paraplegia 3A (autosomal dominant) gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     impairing GTPase activity and thus may acting in a dominant-negative, loss-of-function manner by forming mixed oligomers with wild-type atlastin-1
    Remark(s)
  • mutations in the GTPase domain interfered with the maturation of Golgi complexes by preventing the budding of vesicles from the endoplasmic reticulum, whereas mutations in other regions of the protein disrupted fission of endoplasmic reticulum-derived vesicles or their migration to their Golgi target (PMID: 17321752))
  • mutations in ATL1 causing hereditary spastic paraplegia compromise homotypic ER fusion (PMID: 21368113))