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目的探讨常染色体显性遗传成人癫、震颤伴共济失调的临床特征并排除已知的致病基因。方法对可追溯6代130人的一家系的30名成员(包括11例患者)进行详细的神经系统检查,通过查询人类孟德尔遗传病数据库(OMIM)及表型鉴别、突变筛查和连锁分析验证方法排除已知致病基因;采用模拟连锁分析软件对该家系进行评估。结果该家系患者临床表现为多种形式的癫发作、震颤、肌阵挛小脑协调障碍和锥体束征。通过3种方法排除了已知基因致病可能,模拟连锁分析显示重组率为零时LOD值为6.03。结论该家系可能为尚未报道的常染色体显性遗传癫、震颤伴共济失调综合征,模拟分析证实它可为连锁分析提供足够的遗传信息,为定位克隆奠定了基础。
Objective To investigate the clinical features of autosomal dominant adult epilepsy, tremor with ataxia and to exclude the known causative genes. Methods A detailed neurological examination was performed on 30 members (including 11 patients) in a family of 130 generations of 6 generations of 130 Genes. By searching the human Mendelian Disease Database (OMIM) and phenotypic identification, mutation screening and linkage analysis Validation methods exclude known causative genes; the pedigree was evaluated using mock linkage analysis software. Results The clinical manifestations of this pedigree were various forms of epileptic seizures, tremor, myoclonomic cerebellar coordination disorders, and pyramidal tract signs. By three methods to exclude the possibility of known gene pathogenicity, simulated linkage analysis showed that the zero recombination rate of LOD was 6.03. Conclusion The pedigree may be an autosomal dominant epileptic and tremor with ataxia syndrome that has not yet been reported. Simulated analysis confirmed that it can provide enough genetic information for linkage analysis and laid the foundation for cloning.