A loss of paraplegin results in spasticity in those with hereditary spastic paraplegia gene SPG7

Takeaway

  • Loss of function (LOF) variants of the spastic paraplegia gene 7 (SPG7) are associated with a spasticity-dominant phenotype, whereas the missense variant Ala510Val is associated with cerebellar ataxia.

Why this matters

  • The identification of genotype-phenotype correlations will provide further insight into variant pathogenicity and address current difficulties of genetic counselling in families with seemingly dominant transmission of hereditary spastic paraplegia (HSP).