【摘要】 【目的】探讨家族性肌萎缩侧索硬化症10型患者的临床特点、分子遗传学特征。【方法】对2013年中山大学附属第一医院神经科门诊就诊发现的该病家系行高通量测序法检测其TARDBP基因外显子突变类型。【结果】该家系中3代共5例患者,每代均有患者且男女都有发病,符合常染色体显性遗传特征。该家系患者于50岁左右起病,病情进展迅速,从出现临床症状到最终死亡仅为8~18个月左右。TARDBP基因检测结果显示,先证者的exon6发生了c.892 G>A的杂合突变,另在第3代家系其他成员中,检测发现了3人携带与先证者相同的突变类型,但目前尚未发病。【结论】家族性肌萎缩侧索硬化症10型是一类病情进展迅速、生存时期短暂的运动神经元疾病。目前无有效治疗方法,对患者进行遗传咨询并对其下一代的出生进行产前诊断,遗传咨询和中断遗传链是防治该病的关键措施。更多还原

【Abstract】 【Objective】To explore the clinical features,genetic characters in family amyotrophic lateral sclerosis(ALS10)patients.【Methods】TARDBP gene mutations in Chinese Han family patients with ALS10 diagnosed by the First Affiliated Hospital of Sun Yat-sen University in 2013 was screened by high-throughput sequencing.【Results】There were 5 patients in three generations in this family. The initial symptoms in all affected members were distal limb muscle weakness and dystrophy at their 50 age. With a rapid progression of symptoms about 8 to 18 months. A homozygous missense mutation(c.892G>A)were detected in TARDBP gene exon 6 of the propositus,as well as the other three family members without any clinical symptoms.【Conclusion】ALS10 is a faster progres.sive and shorter survival time FALS. Since there was no effective treatment in ALS10,hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.更多还原