额颞叶痴呆-肌萎缩侧索硬化症重叠综合征伴致病性重复扩展：不典型神经精神表现 1 例报告。
Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in : A Case Report.
机构信息
Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.
Nova Scotia Health, Halifax, NS, Canada.
出版信息
J Geriatr Psychiatry Neurol. 2024 Mar;37(2):157-162. doi: 10.1177/08919887231195337. Epub 2023 Aug 7.
Abstract
The case report describes the presentation of a 42-year-old male ultimately diagnosed with FTD-ALS caused by a genetic mutation, who initially presented with atypical psychiatric symptoms. Given that the initial clinical manifestations of FTD-ALS can be quite variable, the diagnosis is often challenging; the case report aims to highlight several key considerations in the diagnostic assessment, including genetic testing in order to guide clinicians in more timely diagnosis and ultimately improve patient care.
摘要
本病例报告描述了一位 42 岁男性的就诊经过，该患者最终被诊断为 FTD-ALS，其病因是基因突变，最初表现出非典型的精神症状。鉴于 FTD-ALS 的初始临床表现可能变化多样，因此诊断颇具挑战性；本病例报告旨在强调诊断评估中的几个关键注意事项，包括基因检测，以便为临床医生提供更及时的诊断，并最终改善患者的治疗效果。
相似文献
1
Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in : A Case Report.额颞叶痴呆-肌萎缩侧索硬化症重叠综合征伴致病性重复扩展：不典型神经精神表现 1 例报告。
J Geriatr Psychiatry Neurol. 2024 Mar;37(2):157-162. doi: 10.1177/08919887231195337. Epub 2023 Aug 7.
2
Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.额颞叶痴呆伴运动神经元病：伴有和不伴有 C9orf72 重复扩展的患者的临床比较。
Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):172-6. doi: 10.3109/21678421.2013.765485. Epub 2013 Feb 19.
3
[Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)].C9orf72对日本肌萎缩侧索硬化症（ALS）/额颞叶痴呆（FTD）患者的影响
Brain Nerve. 2019 Nov;71(11):1190-1208. doi: 10.11477/mf.1416201429.
4
The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.首例意大利 FTD/ALS 家系报道提示 C9orf72 相关：临床异质性与寡基因遗传
J Alzheimers Dis. 2018;62(2):687-697. doi: 10.3233/JAD-170913.
5
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.C9orf72 扩张与额颞叶痴呆和肌萎缩侧索硬化。
Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29.
6
Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.与C9orf72重复序列扩增相关的肌萎缩侧索硬化症和额颞叶痴呆症家族中的多个变异：对其寡基因性质的进一步观察。
J Neurol. 2017 Jul;264(7):1426-1433. doi: 10.1007/s00415-017-8540-x. Epub 2017 Jun 15.
7
Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.希腊额颞叶痴呆队列中C9ORF72重复扩增的筛查。
Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):152-154. doi: 10.1080/21678421.2017.1400070. Epub 2017 Nov 23.
8
Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.中国大陆肌萎缩侧索硬化症和额颞叶痴呆患者中C9orf72重复序列扩增的鉴定。
Neurobiol Aging. 2014 Apr;35(4):936.e19-22. doi: 10.1016/j.neurobiolaging.2013.10.001. Epub 2013 Oct 5.
9
The frequency of the C9orf72 expansion in a Brazilian population.巴西人群中 C9orf72 扩展的频率。
Neurobiol Aging. 2018 Jun;66:179.e1-179.e4. doi: 10.1016/j.neurobiolaging.2018.01.007. Epub 2018 Jan 31.
10
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.探讨不同种族、民族和血统的肌萎缩侧索硬化/额颞叶痴呆（ALS-FTD）连续体患者的遗传特征。
Genes (Basel). 2021 Dec 28;13(1):76. doi: 10.3390/genes13010076.
引用本文的文献
1
The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-Analysis.肌萎缩侧索硬化症和额颞叶痴呆症相关基因的基因突变对行为和认知变化的差异影响：一项系统评价和荟萃分析
Int J Mol Sci. 2025 Jun 27;26(13):6199. doi: 10.3390/ijms26136199.
本文引用的文献
1
The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.应对额颞叶变性和肌萎缩侧索硬化遗传风险而重建身份的生活体验。
J Genet Couns. 2024 Jun;33(3):515-527. doi: 10.1002/jgc4.1749. Epub 2023 Jul 10.
2
Reduced C9orf72 expression exacerbates polyGR toxicity in patient iPSC-derived motor neurons and a Type I protein arginine methyltransferase inhibitor reduces that toxicity.C9orf72表达降低会加剧患者诱导多能干细胞衍生的运动神经元中的多聚GR毒性，而一种I型蛋白质精氨酸甲基转移酶抑制剂可降低这种毒性。
Front Cell Neurosci. 2023 Apr 17;17:1134090. doi: 10.3389/fncel.2023.1134090. eCollection 2023.
3
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.C9ORF72基因敲低引发小鼠出现类似额颞叶痴呆的症状和细胞病变。
Front Cell Neurosci. 2023 Apr 17;17:1155929. doi: 10.3389/fncel.2023.1155929. eCollection 2023.
4
A cell-penetrant peptide blocking -repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.穿膜肽阻断 - 重复 RNA 核输出可减少二肽重复蛋白的神经毒性作用。
Sci Transl Med. 2023 Mar;15(685):eabo3823. doi: 10.1126/scitranslmed.abo3823. Epub 2023 Mar 1.
5
Clinical impact of whole-genome sequencing in patients with early-onset dementia.全基因组测序对早发性痴呆患者的临床影响。
J Neurol Neurosurg Psychiatry. 2022 Jul 29. doi: 10.1136/jnnp-2021-328146.
6
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.与C9orf72相关的神经退行性疾病：从临床诊断到治疗策略
Front Aging Neurosci. 2022 Jun 10;14:907122. doi: 10.3389/fnagi.2022.907122. eCollection 2022.
7
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.英国应用全基因组测序诊断神经重复扩展疾病：回顾性诊断准确性和前瞻性临床验证研究。
Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2.
8
Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide.强效混合骨架反义寡核苷酸抑制突变 C9orf72 表达。
Nat Med. 2022 Jan;28(1):117-124. doi: 10.1038/s41591-021-01557-6. Epub 2021 Dec 23.
9
Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.重复扩展影响 ALS 原发性皮肤成纤维细胞的蛋白质组。
Int J Mol Sci. 2021 Sep 27;22(19):10385. doi: 10.3390/ijms221910385.
10
Genetic testing in dementia-A medical genetics perspective.痴呆症的基因检测——医学遗传学视角。
Int J Geriatr Psychiatry. 2021 Aug;36(8):1158-1170. doi: 10.1002/gps.5535. Epub 2021 Mar 28.
Zotero 插件