TECPR2 and hereditary spastic paraplegia: Furthermore, the impairment of autophagy observed only in S1 and associated with the c.3379_3380insT mutation may also contribute to the spasticity and choreiform movements since these clinical signs are characteristic of other human diseases in which autophagy plays a significant role (e.g. hereditary spastic paraparesis due to mutations in TECPR2 and SPASTIZIN38, and Huntington’s disease39).