伴有GRN基因突变的语义性痴呆1例

A Case with semantic dementia due to GRN gene mutation

目的:报道1例经基因全外显子测序诊断的伴有GRN基因突变的语义性痴呆的病例。方法:收集1例原发性进行性失语患者的病史、神经心理学评估、神经系统查体、头颅MRI和全外显子测序检测。结果:患者为一名57岁的女性患者,其父亲60岁死于痴呆。该患者56岁起病,以语言障碍为首发症状,命名及听理解障碍较为突出,伴有记忆力下降,头颅MRI提示双侧颞叶萎缩,以左侧前颞叶为主。基因全外显子测序发现GRN基因2号外显杂合突变。结论:该病例诊断为伴有GRN基因突变的语义性痴呆。

Objective:To report a case with semantic dementia(SD)due to progranulin(GRN)gene mutation diagnosed by whole exon sequencing.Methods:The case history,neuropsychological assessment,neurological examination,radiological,and genetic findings were summarized.Results:The case is a 57-year-old female,whose father died due to dementia at the age of 60.He developed at the age of 56 with speech impairment as the first symptom,particularly impaired naming and comprehension,accompanied by memory loss.Brain MRI showed atrophy involving the bilateral temporal lobes,specially left anterior temporal.By whole exon sequencing.the proband was found with the mutation in exon 2 of the GRN gene.Conclusion:This case is diagnosed as semantic dementia due to GRN gene mutation.