Spacey S D, Szczygielski B I, McRory J E, Wali G M, Wood N W, Snutch T P
Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, Canada.
J Neural Transm (Vienna). 2002 Sep;109(9):1189-94. doi: 10.1007/s00702-002-0750-3.
Familial Paroxysmal Kinesigenic Dyskinesia (PKD) is an autosomal dominant condition characterized by attacks of dystonia or chorea triggered by sudden movements. Recently two separate loci for PKD, Episodic Kinesigenic Dyskinesia 1 (EKD1) and Episodic Kinesigenic Dyskinesia 2 (EKD2), have been mapped to chromosome 16 but the causative genes have not been identified. The Na(+)/H(+) exchanger gene (NHE5) involved in regulating intracellular pH lies in the EKD2 region. The coding region of the NHE5 gene in familial PKD was sequenced. We did not identify any mutations in the exons, intron/exon boundaries or the 5' and 3'UTR. This excludes mutations in the coding region of the NHE5 gene as a cause for familial PKD, but does not rule out a possible role of sequence variants in introns or regulatory regions.
家族性阵发性运动诱发性运动障碍（PKD）是一种常染色体显性遗传病，其特征是由突然运动引发的肌张力障碍或舞蹈症发作。最近，PKD的两个独立基因座，发作性运动诱发性运动障碍1（EKD1）和发作性运动诱发性运动障碍2（EKD2），已被定位到16号染色体，但致病基因尚未确定。参与调节细胞内pH值的钠氢交换基因（NHE5）位于EKD2区域。对家族性PKD中NHE5基因的编码区进行了测序。我们在编码区、内含子/外显子边界或5'和3'非翻译区未发现任何突变。这排除了NHE5基因编码区的突变是家族性PKD的病因，但不排除内含子或调控区序列变异可能起的作用。
