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.
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.
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).