RT - Journal Article T1 - 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 JF - gums-cjns YR - 2016 JO - gums-cjns VO - 2 IS - 3 UR - http://cjns.gums.ac.ir/article-1-115-en.html SP - 39 EP - 41 K1 - Spastic Paraplegia K1 - Hereditary K1 - Genotype K1 - Mutation AB - 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. LA eng UL http://cjns.gums.ac.ir/article-1-115-en.html M3 10.18869/acadpub.cjns.2.6.39 ER -