作者@article {Wszolek620 = {Z。k Wszolek和y巴巴i r·麦肯齐和r . j . Uitti a . j . Strongosky d·f·布罗德里克和m . c·贝克和美国Melquist m·l·赫顿和y Tsuboi j . e . Allanson和j·卡尔和a·库马尔和s·m·Calne j . Miklossy p·l·麦基和d . b . Calne a . j . Stoessl}标题={常染色体显性遗传与脑钙化dystonia-plus},体积={67},数量={4},页面= {620 - 625}= {2006},doi = {10.1212/01. wnl.0000230141.40784.09},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘= {genealogic目的:报告、临床成像,neuropathologic,从加拿大家族和遗传数据与肌张力障碍和脑钙质沉着于1985年首次提出的。首页方法:作者进行临床检查和CT和PET研究,分析血液样本。一个验尸。结果:家庭树扩展到166人。没有新个体与肌张力障碍的影响,但在两个姿势震颤发达。在出现症状的平均年龄是19年。八个人有肌张力障碍:三灶,一个节段,一个多焦点的,三个广义。7显示额外的迹象:舞蹈病,智力下降,姿势震颤、构音障碍。CT研究进行5和10个高危家庭成员的影响。 All affected individuals and eight at-risk individuals had brain calcinosis. PET scans in two individuals showed reduced D1- and D2-receptor binding and reduced uptake of 6-[18F]fluoro-l-dopa. Autopsy of one affected individual showed extensive depositions of calcium in the basal ganglia, thalamus, cerebral white matter, and cerebellum. No specific immunohistochemistry abnormalities were seen. Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12. Conclusions: The phenotype of this family consists of dystonia-plus syndrome. Brain calcium deposits vary in severity and distribution, suggesting that calcifications alone are not entirely responsible for the observed clinical signs. Further studies are needed to elucidate the etiology of this heterogeneous group of disorders.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/67/4/620}, eprint = {//www.ez-admanager.com/content/67/4/620.full.pdf}, journal = {Neurology} }