| 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, and Eun-Kyoung Cho |
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| Copyright © 2005 The Korean Society of Clinical Neurophysiology |
| This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium,
provided the original work is properly cited. |
| ABSTRACT |
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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. |
| Key words:
Hereditary spastic paraplegia (HSP), SPG4 (spastin) |
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