Analyses of clinical and genetic characteristics of 179 patients with hereditary spastic paraplegia
Author(s): WANG Yin-guang, SHEN Lu, DU Juan, CHEN Chong, ZHOU Zhi-fan, XIAO Zhi-quan, LUO Ying-ying, WANG Jun-ling, YAN Xin-xiang, TANG Bei-sha
Pages: 681-685
Year: 2010 Issue: 10
Journal: Chinese Journal of Neurology
Keyword: Spastic paraplegia; hereditary; Inheritance patterns; Retrospective studies;
Abstract: 目的 探讨我国遗传性痉挛性截瘫(HSP)患者的临床与遗传学特点.方法 对179例中国汉族人群HSP患者的临床资料和遗传学特点进行回顾性分析.结果 共收集78个家系114例患者和65例散发患者,家族史阳性率为54.5%,未发现遗传早现现象,部分家系存在外显不全.患者中男女比例为1.84:1,平均发病年龄(18.1±14.0)岁,平均病程(12.3±11.5)年;常染色体显性遗传(AD)-HSP患者的...
Pages: 681-685
Year: 2010 Issue: 10
Journal: Chinese Journal of Neurology
Keyword: Spastic paraplegia; hereditary; Inheritance patterns; Retrospective studies;
Abstract: 目的 探讨我国遗传性痉挛性截瘫(HSP)患者的临床与遗传学特点.方法 对179例中国汉族人群HSP患者的临床资料和遗传学特点进行回顾性分析.结果 共收集78个家系114例患者和65例散发患者,家族史阳性率为54.5%,未发现遗传早现现象,部分家系存在外显不全.患者中男女比例为1.84:1,平均发病年龄(18.1±14.0)岁,平均病程(12.3±11.5)年;常染色体显性遗传(AD)-HSP患者的...
Citations
- Classification of the hereditary ataxias and paraplegias Harding AE
- Hereditary spastic paraparesis:a review of new developments McDermott C.White K.Bushby K
- 广东省部分地区152 318人口神经系统遗传病流行病学调查报告 刘焯霖.梁秀龄.潘锡榜
- Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic Wang YG.Du J.Wang JL
- Hereditary "pure" spastic paraplegia:a clinical and genetic study of 22 families Harding AE
- 中国遗传性痉挛性截瘫的临床特点 陈嵘.龚黎民.梁秀龄
- Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum Liao SS.Shen L.Du J
- Hereditary "pure"spastic paraplegia:a study of nine families Polo JM.Calleja J.Combarros O
- Clinical heterogeneity of autosomal recessive spastic paraplegias:analysis of 106 patients in 46 families Coutinho P.Barros J.Zemmouri R
- Hereditary spastic paraplegias:an update Depienne C.Stevanin G.Brice A
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