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:: Volume 2, Number 6 (Summer 2016) ::
Caspian.J.Neurol.Sci 2016, 2(6): 39-41 Back to browse issues page
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
Karim Nikkhah, Ali Ghabeli-Juibary , Ariane Sadr-Nabavi
Resident of Neurology, Department of Neurology, Student Research Committee, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; alighabeli@yahoo.com
Abstract:   (1325 Views)

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.

Keywords: Spastic Paraplegia, Hereditary, Genotype, Mutation
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Type of Study: case report | Subject: Special
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DOI: 10.18869/acadpub.cjns.2.6.39


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Nikkhah K, Ghabeli-Juibary A, Sadr-Nabavi A. 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. Caspian.J.Neurol.Sci. 2016; 2 (6) :39-41
URL: http://cjns.gums.ac.ir/article-1-115-en.html
Volume 2, Number 6 (Summer 2016) Back to browse issues page
مجله علوم اعصاب کاسپین Caspian Journal of Neurological Sciences

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