مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

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

Pages

  39-41

Abstract

 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.

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  • Cite

    APA: Copy

    NIKKHAH, KARIM, GHABELI JUIBARY, ALI, & SADR NABAVI, ARIANE. (2016). 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 JOURNAL OF NEUROLOGICAL SCIENCES, 2(6), 39-41. SID. https://sid.ir/paper/344617/en

    Vancouver: Copy

    NIKKHAH KARIM, GHABELI JUIBARY ALI, SADR NABAVI ARIANE. 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 JOURNAL OF NEUROLOGICAL SCIENCES[Internet]. 2016;2(6):39-41. Available from: https://sid.ir/paper/344617/en

    IEEE: Copy

    KARIM NIKKHAH, ALI GHABELI JUIBARY, and ARIANE SADR NABAVI, “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 JOURNAL OF NEUROLOGICAL SCIENCES, vol. 2, no. 6, pp. 39–41, 2016, [Online]. Available: https://sid.ir/paper/344617/en

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