A Novel C.4822>T Mutation on Spg11 in An Iranian Patient Marked By Hereditary Spastic Paraparesis and Skeletal Deformity: An Incidental Finding Or A True Association

Hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. we report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. neurological examination showed that he had proximal lower limbs weakness with a positive gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle was ting, bilateral horizontal nystagmus (direction change), and positive romberg sign. a novel mutation in spg11/spatacsin was detected through genetic analysis. magnetic resonance imaging showed normal whole spine and brain anatomy.