دوره 2، شماره 6 - ( 6-1395 )                   جلد 2 شماره 6 صفحات 39-41 | برگشت به فهرست نسخه ها


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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-fa.html
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. مجله علوم اعصاب کاسپین. 1395; 2 (6) :39-41

URL: http://cjns.gums.ac.ir/article-1-115-fa.html


چکیده:   (2062 مشاهده)

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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نوع مطالعه: گزارش مورد | موضوع مقاله: تخصصي
دریافت: ۱۳۹۵/۷/۱۲ | پذیرش: ۱۳۹۵/۷/۱۲ | انتشار: ۱۳۹۵/۷/۱۲

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