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| GRN基因突变相关非流利变异型原发性进行性失语一例并文献复习 |
| GRN gene mutation-associated non-fluent variant primary progressive aphasia：one case report and literatures review |
| 投稿时间：2024-01-01 修订日期：2024-01-01 |
| DOI： |
| 中文关键词: 额颞叶痴呆,GRN基因,突变,非流利变异型原发性进行性失语 |
| 英文关键词: Frontotemporal dementia GRN gene Mutation non fluent variant primary progressive aphasia |
| 基金项目:云南省省院省校合作基金(202301AY070001-233) |
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| 中文摘要: |
| 目的 报告一例非流利变异型原发性进行性失语患者的临床表型及其GRN基因突变的特征,并相关文献复习,扩充中国额颞叶痴呆GRN基因突变谱,为研究额颞叶变性的遗传学提供帮助。方法 对一例以自发语言的流畅性障碍和语句中的语法缺失,言语不流利,长句理解障碍症状患者临床表现,神经心理学评估,头颅影像学变化,以及基因检测结果进行分析,并结合相关文献进行病因、鉴别诊断探讨。结果 其主要表现为语言减少、语法缺失,说话费力、断断续续、对语法复杂句子理解困难,简单词汇能理解；MMSE为11分；MoCA为3分；头部MRI检查显示双侧额叶及颞叶呈不对称萎缩,以左侧更为显著；认知障碍功能基因检测表明存在GRN基因一处杂合突变(突变位点为c.229delG),儿子和女儿均有杂合突变；临床诊断为非流利变异型原发性进行性失语。结论 GRN基因突变很可能是由于其编码的GRN 蛋白结构和功能改变,引起tau蛋白病理改变,基因关联疾病“额颞叶退行性病变伴泛素阳性包涵体”为常染色体显性遗传,此杂合突变符合疾病显性遗传模式,进而导致额颞叶变性萎缩和非流利变异型原发性进行性失语。 |
| 英文摘要: |
| Objective To report the clinical phenotype and GRN gene mutation characteristics of a patient with non fluent variant primary progressive aphasia, and to review relevant literature to expand the GRN gene mutation spectrum of frontotemporal dementia in China, providing assistance for studying the genetics of frontotemporal degeneration. Methods the clinical manifestations, neuropsychological evaluation, cranial imaging changes, and genetic testing results of a patient with spontaneous language fluency disorder, grammar loss in sentences, non fluent speech, and long sentence comprehension disorder were analyzed, and the etiology and differential diagnosis were discussed in combination with relevant literature. Results the main manifestations were reduced language, lack of grammar, laborious and intermittent speech, difficulty in understanding grammatical complex sentences, and simple vocabulary; MMSE was 11 points; MOCA was 3 points; MRI of the head showed asymmetric atrophy of bilateral frontal and temporal lobes, especially on the left side; The functional gene test of cognitive impairment showed that there was a heterozygous mutation in GRN gene (the mutation site was c.229delg), and both sons and daughters had heterozygous mutations; The clinical diagnosis was non fluent variant primary progressive aphasia. Conclusion GRN gene mutation is likely due to the structural and functional changes of GRN protein encoded by GRN, which causes pathological changes of tau protein. The gene related disease "frontotemporal degenerative lesions with ubiquitin positive inclusions" is autosomal dominant. This heterozygous mutation conforms to the dominant inheritance pattern of the disease, and then leads to frontotemporal lobar degeneration and atrophy and non fluent variant primary progressive aphasia. |
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