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GENATLAS PHENOTYPE
last update : 10/01/2013
Symbol SPG28
Location 14q22.1
HGNC id 13682
Name spastic paraplegia 28
Corresponding gene DDHD1
Main clinical features
  • isolated and progressive spasticity in the lower limbs PMID:15786464
  • a cerebellar oculomotor disturbance with saccadic eye pursuit, axonal neuropathy PMID:23176821
  • pure spastic paraplegia, onset in infancy, childhood, or adolescence, either as an uncomplicated spastic paraplegia syndrome; or variable associated with axonal neuropathy, distal sensory loss, and cerebellar eye movement disturbance
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name DDHD domain containing 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     c.1766G>A p.Arg589Gln PMID:23176821
    nonsense   truncated protein c.1249C>T p.Gln417∗ PMID:23176821
    frameshift     c.1874del p.Leu625∗ PMID:23176821
    Remark(s)