《中国康复理论与实践》

《中国康复理论与实践》 ›› 2009, Vol. 15 ›› Issue (01): 30-31.

• 专题 • 上一篇    下一篇

遗传性痉挛性截瘫伴薄型胼胝体的电生理和磁共振成像

崔芳;黄旭升   

  1. 解放军总医院神经内科，北京市 100853
  • 收稿日期:2008-10-20 出版日期:2009-01-01 发布日期:2009-01-01
  • 通讯作者: 黄旭升

Electrophysiology and Magnetic Resonance Imaging of Hereditary Spastic Paraplegia with Thin Corpus Callosum: 3 Cases Report

CUI Fang, HUANG Xu-sheng   

  1. Department of Neurology, General Hospital of PLA, Beijing 100853, China
  • Received:2008-10-20 Published:2009-01-01 Online:2009-01-01

PDF (PC)

被引次数

6

摘要： 目的 探讨遗传性痉挛性截瘫伴薄型胼胝体(HSP-TCC)的特点。方法 对3例HSP-TCC患者的临床、电生理及头颅MRI资料进行回顾性分析，结合文献分析其遗传特点。结果 3例患者均以双下肢僵硬及行走困难起病，表现为双下肢痉挛无力，合并智力下降。2例神经电生理提示双下肢肌肉神经源性受损，1例电生理提示周围神经受损。智能检测均提示智力缺损。头颅MRI均显示胼胝体变薄，发育不良。目前对HSP-TCC进行了很多基因研究，其中一个遗传位点位于染色体15q13-15区域，但研究也发现一些HSP-TCC家族的发病与该遗传位点并无关系。结论 HSP-TCC是一种常染色体隐性遗传的复杂型HSP，伴有认知功能障碍，影像学提示胼胝体发育不良，电生理可提示神经源性受损。

关键词: 遗传性痉挛性截瘫（HSP）, 薄型胼胝体, 临床, 电生理, 磁共振成像, 遗传

Abstract: Objective To explore the characteristics of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). Methods Clinical, electrophysiological, MRI features of 3 patients with HSP-TCC were reported. The genetic characteristics were reviewed. Results 3 patients revealed difficulty in walking, slowly progressive weakness, spasticity of the lower limbs and mental impairment. The electromyogram in 2 cases showed neurogenic damage in lower limbs muscle, and 1 case showed peripheral nerve damage. Cerebral MRI showed an extremely thin corpus callosum on sagittal image. The locus of 15q13-15 has been identified for HSP-TCC, but some HSP-TCC families have not been linked to this locus.Conclusion HSP-TCC is a common subtype of complicated HSP inherited by autosomal recessive mode. Brain MRI showed extremely thin corpus callosum. Electromyogram many reveal neurogenic damage.

Key words: hereditary spastic paraplegia, thin corpus callosum, clinic, electrophysiology, magnetic resonance imaging (MRI), genetics