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Article type: Case Report 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.

caspian journal of neurological sciences

A Novel c.4822&gt;T Mutation on SPG11 in an Iranian Patient Marked by Hereditary Spastic Paraparesis and Skeletal Deformity: An Incidental Finding or a True Association