摘要
目的研究孪生子患单纯型遗传性痉挛性截瘫(HSP)的临床特征与卵型鉴定。方法对一对患单纯型HSP孪生兄弟的临床特点和症状进行分析并跟踪随访,同时作孪生子卵型鉴定。结果(1)孪生子均缓慢起病,步态不稳,下肢笨拙,上下楼困难,逐渐发展为双下肢痉挛性不完全性截瘫;(2)下肢肌张力增高,肌力Ⅳ级,腱反射亢进,髌、踝阵挛阳性,Babinski征阳性,屈性病理反射阳性;(3)16个STR位点的等位基因均相同,提示为同卵双生。结论孪生子同患单纯型HSP的临床特点与一般HSP无异,作16个STR位点的PCR可快速、准确地鉴定孪生子的卵型。
Objective To study the clinical features and zygosity diagnosis of hereditary spastic paraplegia （HSP） in identical twins. Methods A pair of identical twins with HSP were analyzed in their clinical features, symptoms, and follow-up results, meantime, they were tested with zygosity diagnosis. Results （1） The pair of twins had a slow onset, from instability of gait, clumsiness of lower limbs, difficulty of going upstairs or downstairs, progressively to incomplete spastic paraplegia in both lower extremities; （2） Hypermyotonia and Ⅳ^- level myodynamia in both lower extremities, tendon hyperreflexia, knee cap clonus （＋）, ankle clonuses （＋）, Babinski sign （＋）, and flexion pathologic reflexes （＋）; （3） The alleles of 16 PCR-STR were the same in both of them, indicating identical twins. Conclusion The clinical features of HSP in identical twins are the same as ordinary HSP patients. PCR-STR in 16 sites can identify zygosity quickly and accurately.
出处
《中华神经医学杂志》
CAS
CSCD
2006年第11期1122-1124,共3页
Chinese Journal of Neuromedicine
关键词
孪生子
卵型鉴定
遗传性痉挛性截瘫
Identical twins
Zygosity diagnosis
Hereditary spastic paraplegia
