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GENATLAS PHENOTYPE
last update : 31-03-2021
Symbol SPG8
Location 8q24.13
HGNC id 28984
Name spastic paraplegia 8
Other name(s) strumpellin WASH complex subunit strumpellin
Corresponding gene WASHC5
Main clinical features
  • pure spastic paraplegia of adult onset, insidious onset ranging from 22 to 66 years and a progressive severe evolution in a Caucasian kindred and in African Brazilian family, excluding the SNTB1 locus
  • spasticity, hyperreflexia, extensor plantar reflexes, lower-limb weakness, decreased vibration sensation, and limited muscle wasting
  • pyramidal symptoms and signs limited to the legs, with hyperreflexia and a spastic gait, some hyperreflexia in the arms, mild upper extremity ataxia without cerebellar abnormalities of the extra-ocular eye movements or lower extremities, very mild dysphagia also occur PMID:23455931
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     . Val626Phe mutation, mostly frequent
    missense     c.2087G >C; p.Gly696Ala PMID:23455931
    missense     p.Asn471Asp and p.Leu619Phe
    Remark(s)