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One Family with Hereditary Spastic Paraplegiadue to SPG4 Gene Mutation

Jeong-Seon Cho, Doo-Eung Kim, Jung-Mee Kim, Young-Su Han, Sang-Won Ha, Sang-Eun Park, Jeong-Ho Han, Eun-Kyoung Cho
Journal of the Korean Society of Clinical Neurophysiology 2005;7(2):138-140.
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Str?pell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.

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