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A Case with semantic dementia due to GRN gene mutation
Chunchun CHEN, Feiqi ZHU, Chunyan XU, Guozhen QIU, Qiwen GUO, Jiawen LI
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A Case with semantic dementia due to GRN gene mutation
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.
Primary progressive aphasias / Frontotemporal dementia / Semantic dementia / GRN gene {{custom_keyword}} /
Tab.1 Neuropsychological assessments表1 全套神经心理测评 |
| 测验名称 | 得分 | 正常值 | 满分 |
|---|---|---|---|
| 简明精神状态量表（MMSE） 总分 | 20 | 文盲>17 小学>20 初中及以上>24 | 30 |
| 蒙特利尔认知评估基础量表（MoCA-B）总分 | 11 | 文盲与小学>19 中学>22 大学>24 | 30 |
| 记忆与执行筛查量表（MES）总分 | 53 | >75 | 100 |
| AVLT词语延迟回忆 | 7 | >4 | 12 |
| AVLT词语总记忆 | 25 | >20 | 60 |
| CFT图形模仿 | 28 | >32 | 36 |
| CFT图形延迟回忆 | 12.5 | >9 | 36 |
| 动物流畅性（AFT） | 无法完成 | 初中>10 高中>11 大学>12 | |
| Boston命名测验（BNT） | 12 | 初中>17 高中>19 大学>20 | 30 |
| Stroop 色词测验C（正确数） | 50 | >40 | 50 |
| 连线测验（STT-B） | 188 | 中学<230 大学<210 | |
| 数字符号转换 | 58 | >29 | |
| 数字广度测验 | 3-2 | ||
| 老年抑郁量表(GDS) | 4 | <5 | |
| 日常生活能力量表 | 19 | <23 | 20 |
Tab. 2 Language ABC assessment表2 语言ABC评估 |
| 检查项目 | 得分 | 总分 | ||
|---|---|---|---|---|
| 口语表达 | 信息量 | 4 | 6 | |
| 流利性 | 22 | 27 | ||
| 系列语言 | 21 | 21 | ||
| 复述 | 49 | 100 | ||
| 命名： | 词命名 | 12 | 40 | |
| 反应命名 | 6 | 10 | ||
| 列名 | 3 | 12 | ||
| 听理解 | 是/否题 | 42 | 60 | |
| 听辨认 | 52 | 90 | ||
| 口头指令 | 22 | 80 | ||
| 阅读 | 视读 | 10 | 10 | |
| 听字辨认 | 10 | 10 | ||
| 字画匹配 理解 | 朗读 | 20 | 20 | |
| 20 | 20 | |||
| 读指令执行 理解 | 朗读 | 15 | 15 | |
| 12 | 15 | |||
| 填空 | 27 | 30 | ||
| 书写 | 姓名地址 | 5 | 10 | |
| 抄写 | 10 | 10 | ||
| 听写 | 14 | 34 | ||
| 系列书写 | 20 | 20 | ||
| 看图书写 | 6 | 20 | ||
| 自发书写 | 1 | 5 | ||
Fig.1 Cranial MRI of the caseNot: A~E: Both coronal and transverse horizontal scan indicate significant atrophy in the left temporal lobe, mainly in the left anterior temporal lobe (indicated by arrows); F: MRA indicated normal intracranial vessels; G~H: ASL indicated decreased perfusion in the left anterior temporal lobe (indicated by arrows)图1 患者头颅MRI |
| [1] |
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{{custom_citation.annotation}}
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| [2] |
Six right-handed patients experienced a slowly progressing aphasic disorder without the additional intellectual and behavioral disturbances of dementia. The symptoms almost universally started in the presenium. The initial difficulty was an anomic aphasia in five of the patients and pure word deafness in the sixth. Continuous and gradual deterioration occurred in the five patients who presented with an anomic aphasia. They eventually experienced additional impairment of reading, writing, and comprehension. In four patients, other areas of comportment were not involved within the 5 to 11 years of follow-up. A more generalized state of dementia may have emerged in the other two patients, but only after 7 years of progressive debilitating aphasia. Neurodiagnostic procedures were consistent with preferential involvement of the left perisylvian region. In one patient, cortical biopsy did not show any pathognomonic change; specifically, no neurofibrillary tangles, amyloid plaques, neuronal inclusions, or gliosis were seen. This condition may constitute a syndrome of relatively focal cerebral degeneration with a predilection for the left perisylvian region.
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{{custom_citation.annotation}}
|
| [3] |
郭起浩, 陈科良. 语义性痴呆的研究进展[J]. 重庆医科大学学报, 2017, 42(6):4.
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [4] |
中华医学会老年医学分会老年神经病学组, 额颞叶变性专家共识撰写组. 额颞叶变性诊治中国专家共识[J]. 中华老年医学杂志, 2022, 41(8):15.
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [5] |
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [6] |
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [7] |
{{custom_citation.content}}
{{custom_citation.annotation}}
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| [8] |
Numerous kindreds with familial frontotemporal lobar degeneration have been linked to mutations in microtubule-associated protein tau (MAPT) or progranulin (GRN) genes. While there are many similarities in the clinical manifestations and associated neuroimaging findings, there are also distinct differences. In this review, we compare and contrast the demographic/inheritance characteristics, histopathology, pathophysiology, clinical aspects, and key neuroimaging findings between those with MAPT and GRN mutations.
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| [9] |
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [10] |
王梓铖, 翟伟杰, 魏春晓, 等. VCP基因突变导致的语义性痴呆1例并文献复习[J]. 中风与神经疾病杂志, 2022, 39(11):1032-1034.
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [11] |
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [12] |
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [13] |
The aim of our study was to determine the utility of longitudinal magnetic resonance imaging (MRI) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (FTD), including microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations and C9ORF72 repeat expansions, as well as sporadic FTD.In this longitudinal study, 58 subjects were identified who had at least two MRI and MAPT mutations (n = 21), GRN mutations (n = 11), C9ORF72 repeat expansions (n = 11) or sporadic FTD (n = 15). A total of 198 serial MRI measurements were analyzed. Rates of whole brain atrophy were calculated using the boundary shift integral. Regional rates of atrophy were calculated using tensor-based morphometry. Sample size estimates were calculated.Progressive brain atrophy was observed in all groups, with fastest rates of whole brain atrophy in GRN, followed by sporadic FTD, C9ORF72 and MAPT. All variants showed greatest rates in the frontal and temporal lobes, with parietal lobes also strikingly affected in GRN. Regional rates of atrophy across all lobes were greater in GRN compared to the other groups. C9ORF72 showed greater rates of atrophy in the left cerebellum and right occipital lobe than MAPT, and sporadic FTD showed greater rates in the anterior cingulate than C9ORF72 and MAPT. Sample size estimates were lowest using temporal lobe rates in GRN, ventricular rates in MAPT and C9ORF72, and whole brain rates in sporadic FTD.These data support the utility of using rates of atrophy as outcome measures in future drug trials in FTD and show that different imaging biomarkers may offer advantages in the different variants of FTD.© 2015 EAN.
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| [14] |
{{custom_citation.content}}
{{custom_citation.annotation}}
|
| [15] |
史璐行, 刘巧玲, 钱雪芬, 等. 甘露特钠联合多奈哌齐治疗轻度阿尔茨海默病的疗效[J]. 中国老年学杂志, 2022(19):42.
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| {{custom_ref.label}} |
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