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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG56
Location 4q25
Name spastic paraplegia 56
Other name(s)
  • Spastic Paraplegia with Thin Corpus Callosum
  • spastic paraplegia 49A
    • Corresponding gene CYP2U1
    Other symbol(s) SPG49A
    Main clinical features
  • spastic gait, Increased tendon reflexes, mild dysarthria PMID:23176821
  • thin corpus callosum, bilateral globus pallidus calcifications, white-matter abnormalities PMID:23176821
  • early childhood onset spastic paraplegia, variable upper extremity involvement, upper extremity dystonia, cognitive impairment, thin corpus callosum, brain white matter disturbance, axonal neuropathy, basal ganglia calcifications
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     c.947A>T p.Asp316Val, c.1139A>G p.Glu380Gly, c.784T>C p.Cys262Arg and c.1462C>T p.Arg488Trp PMID:23176821
    frameshift     c.61_73del p.Leu21Trpfs∗19 PMID:23176821
    Remark(s)