Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
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DOI：
10.1002/mds.10126
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发表时间：
2002-07-01
影响因子：
8.6
通讯作者：
Wood, NW
中科院分区：
文献类型：
--
作者：
Spacey, SD;Valente, EM;Wood, NW
阵发性运动诱发性运动障碍（PKD）的特征在于舞蹈性、张力障碍性、弹道性或手足徐动样运动的阵发性。发作通常持续数秒至数分钟，由突然的自愿运动引起。已在16号染色体上鉴定了PKD基因座。我们提出了两个英国和印度家庭的PKD的临床和遗传细节。在这些家族中，有一个家族与16号染色体上的PKD基因座的连锁被排除，这为PKD的第三个基因座提供了证据。详细的临床描述突出了青少年和婴儿癫痫发作在一些PKD家庭的存在。本研究试图阐明青少年和婴儿癫痫发作与PKD的关系，并提供证据表明PKD在遗传和临床上都是异质性的。(C)2002运动障碍协会。
Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous. (C) 2002 Movement Disorder Society.