伴远端肌萎缩遗传性痉挛性截瘫的分子遗传学研究进展  

Molecular genetics study of hereditary spastic paraplegia accompanied by distal amyotrophy-an update

作　　者：王珍珍[1,2] 岑志栋[1] 罗巍[1] 

机构地区：[1]浙江大学医学院附属第二医院神经内科,杭州310009 [2]附属儿童医院儿童内科

出　　处：《中华医学遗传学杂志》2013年第4期429-434,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30973221）

摘　　要：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。Hereditary spastic paraplegia（HSP or SPG） is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity, 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.

关 键 词：遗传性痉挛性截瘫 远端肌萎缩 分子遗传学 

分 类 号：R746.4[医药卫生—神经病学与精神病学]