By reviewing the clinical manifestations of SPG76 patients, we validated the "spastic-ataxia" phenotype and emphasized the association between spasticity and ataxia, indicating the importance of CAPN1 screening in HSP patients.
Mutations in <i>CAPN1</i> have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP) with a combination of cerebellar ataxia and corticomotor tract disorder (SPG76).
Given the functional implications and high level of conservation observed across species, the CAPN1 variant represents a provocative candidate for the cause of SCA in the PRT and a novel potential cause of ataxia in humans.