Wang Weiqing, Jiang Lei, Ye Lei, Zhu Na, Su Tingwei, Guan Liqing, Li Xiaoying, Ning Guang
Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Ruijin Hospital, Shanghai Jiaotong University, Medical School, PR China.
Mol Genet Metab. 2006 Apr;87(4):359-63. doi: 10.1016/j.ymgme.2005.10.020. Epub 2006 Jan 4.
Thyrotoxic periodic paralysis (TPP), familial periodic paralysis (FPP), and sporadic periodic paralysis (SPP) are the most common causes of hypokalemic periodic paralysis (hypoKPP). The patients present with similar clinical features characterized by episodic attacks of muscle weakness and a decrease in blood potassium. Mutations in the gene encoding the voltage-sensor coding regions of the skeletal muscle sodium channel gene (SCN4A) and the alpha-1 subunit of the skeletal muscle calcium channel gene were analyzed in 23 Chinese hypoKPP patients, including 1 FPP pedigree, 14 TPP patients, and 8 SPP patients. In addition, R83H mutation of the potassium channel subunit gene which was originally published as periodic paralysis mutation was also analyzed. A heterozygous CGT-TGT mutation at codon 672 in SCN4A gene was identified to segregate with the disease in the FPP family. Mutations in these regions were excluded in those patients with SPP and TPP. The results suggest that a likely genetic basis for FPP does not contribute to TPP and SPP, despite close similarities among FPP, TPP, and SPP.
甲状腺毒症性周期性瘫痪（TPP）、家族性周期性瘫痪（FPP）和散发性周期性瘫痪（SPP）是低钾性周期性瘫痪（低钾性周期性麻痹，hypoKPP）最常见的病因。患者表现出相似的临床特征，以肌肉无力发作和血钾降低为特点。对23例中国低钾性周期性麻痹患者进行了编码骨骼肌钠通道基因（SCN4A）电压传感器编码区的基因及骨骼肌钙通道基因α-1亚基的突变分析，其中包括1个FPP家系、14例TPP患者和8例SPP患者。此外，还分析了最初作为周期性瘫痪突变报道的钾通道亚基基因的R83H突变。在FPP家系中，鉴定出SCN4A基因第672密码子处的杂合CGT-TGT突变与疾病共分离。在SPP和TPP患者中排除了这些区域的突变。结果表明，尽管FPP、TPP和SPP之间有密切相似性，但FPP可能的遗传基础对TPP和SPP并无影响。
