作者@article {Casali262 = {C。Casali e·m·瓦伦特和e·贝尔蒂尼g . Montagna c . Criscuolo和g·德·米歇尔·m·维拉诺瓦·m·达米亚诺和A . Pierallini f . Brancati诉Scarano和A·泰f . Cricchi g·s·格雷科和m . Muglia m . Carella A和b马提尼和罗西·g·A·阿玛比尔和g . Nappi A Filla和b . Dallapiccola f . m . Santorelli} title ={临床和遗传学研究在遗传性痉挛性截瘫薄胼胝体},体积={62}={2},页面= {262 - 268}= {2004},doi = {10.1212 / WNL.62.2.262},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景:一个复杂的形式的隐性遗传性痉挛性下肢瘫痪(休克)薄胼胝体(太极拳)第一次被描述在日本,并且大多数日本家庭显示链接15号染色体问题{\ textendash} 15。首页隐性HSP轨迹(SPG11)也被映射到15号染色体问题{\ textendash} 15在意大利和北美家庭没有太极拳,它重叠区域中确定日本家庭。目的:研究临床和基因12意大利家庭HSP和太极拳。方法:作者调查18影响和30健康个体从12与隐性HSP-TCC无关的意大利家庭。临床神经生理学,neuroradiologic研究。所有患者为阴性SPG7突变。遗传连锁分析进行多态DNA标记问题15日{\ textendash} 15。结果:五个家庭与连杆相一致,因此定义一个19.8厘米标记D15S1007和D15S978之间的地区,包括SPG11间隔。在一个血缘的家人,联系可以坚定地排除在外,确认遗传异质性。 Two families appeared not linked to the region, but this could not be firmly proved because of the small family size. The remaining four families were uninformative for linkage purposes. Conclusion: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13{\textendash}15.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/62/2/262}, eprint = {//www.ez-admanager.com/content/62/2/262.full.pdf}, journal = {Neurology} }