Annals of Clinical Neurophysiology
- Volume 7 Issue 2
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- Pages.138-140
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- 2005
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- 2508-691X(pISSN)
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- 2508-6960(eISSN)
One Family with Hereditary Spastic Paraplegia due to SPG4 Gene Mutation
SPG4 유전자 변이에 의한 유전경직하반신마비를 보인 가족 1예
- Cho, Jeong-Seon (Department of neurology, Seoul Veterans Hospital) ;
- Kim, Doo-Eung (Department of neurology, Seoul Veterans Hospital) ;
- Kim, Jung-Mee (Department of neurology, Seoul Veterans Hospital) ;
- Han, Young-Su (Department of neurology, Seoul Veterans Hospital) ;
- Ha, Sang-Won (Department of neurology, Seoul Veterans Hospital) ;
- Park, Sang-Eun (Department of neurology, Seoul Veterans Hospital) ;
- Han, Jeong-Ho (Department of neurology, Seoul Veterans Hospital) ;
- Cho, Eun-Kyoung (Department of neurology, Seoul Veterans Hospital)
- 조정선 (서울보훈병원 신경과) ;
- 김두응 (서울보훈병원 신경과) ;
- 김정미 (서울보훈병원 신경과) ;
- 한영수 (서울보훈병원 신경과) ;
- 하상원 (서울보훈병원 신경과) ;
- 박상은 (서울보훈병원 신경과) ;
- 한정호 (서울보훈병원 신경과) ;
- 조은경 (서울보훈병원 신경과)
- Published : 2005.12.30
Abstract
Strumpell, 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.