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 neurodegenerativedisorders with some special mutations. We report on a patient with pescavus,distal a myotrophy, hyper extended fingers, and pectus excavatum. Neurologicalexamination showed that he had proximal lower limbs weakness with a positiveGower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distalmuscle was ting, bilateral horizontal nystagmus (direction change), and positiveRomberg sign. A novel mutation in SPG11/spatacsin was detected throughgenetic analysis. Magnetic resonance imaging showed normal whole spine andbrain anatomy.

Keywords:

Spastic Paraplegia , Hereditary , Genotype , Mutation