CAJ | 학술논문

遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP or SPG)是一组具有高度临床和遗传异质性的神经系统变性疾病,以缓慢进展的双下肢痉挛性截瘫和无力为主要临床特点,病理特点为皮质脊髓束及后索的轴突纤维退行性变.根据是否伴有脊髓外损害,又可将HSP分为复杂型和单纯型.近年来发现越来越多的HSP伴有远端肌萎缩症状,其致病基因到目前为止已定位16型,其中13型已被克隆.随着越来越多的基因被克隆,本病的分子遗传学机制将逐渐被揭示.
유전성경련성절탄(hereditary spastic paraplegia,HSP or SPG)시일조구유고도림상화유전이질성적신경계통변성질병,이완만진전적쌍하지경련성절탄화무력위주요림상특점,병리특점위피질척수속급후색적축돌섬유퇴행성변.근거시부반유척수외손해,우가장HSP분위복잡형화단순형.근년래발현월래월다적HSP반유원단기위축증상,기치병기인도목전위지이정위16형,기중13형이피극륭.수착월래월다적기인피극륭,본병적분자유전학궤제장축점피게시.
Hereditary spastic paraplegia(HSP or SPG) is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spastieity,weakness of lower limbs,and pathologically by retrograde axonal degeneration of corticospinal tracts and posterior spinal tracts.Presence of additional features allows differentiation between simple and complex forms of the disease.Genetically,16 loci for HSP accompanied by distal amyotrophy have been mapped,for which 13 genes have been identified.With the identification of causative genes,the molecular mechanism of this disease is gradually elucidated.