Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort
Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort
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DOI：
10.1002/alz.12046
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发表时间：
2020-01-01
影响因子：
14
通讯作者：
Boxer, A. L.
中科院分区：
文献类型：
--
作者：
Heuer, Hilary W.;Wang, P.;Boxer, A. L.
前言：行为变异型额颞叶痴呆(BvFTD)可呈散发或常染色体显性突变。这两种形式的特征将提高对评估和治疗的概括性的理解。方法：总共确定了135名散发性(S-bvFTD；平均年龄63.3岁；女性占34%)和99名家族性(f-bvFTD；平均年龄59.9岁；女性占48%)bvFTD参与者。FbvFTD病例包括43例已知或推测为9号染色体开放阅读框72(C9orf72)基因扩展的患者，28例已知或推测为微管相关蛋白tau(MAPT)突变的患者，14例已知的原颗粒蛋白(GRN)突变患者，14例有FTD家族史但未发现突变的患者。S-bvFTD和S-bvFTD患者由于更频繁地认可抑郁和易怒，神经精神症状问卷总分较高。讨论：F-bvFTD和S-bvFTD在临床上相似，提示新的生物标记物、治疗方法和临床工具在两种形式中发展的通用性。
Introduction: Behavioral variant frontotemporal dementia (bvFTD) may present sporadically or due to an autosomal dominant mutation. Characterization of both forms will improve understanding of the generalizability of assessments and treatments.Methods: A total of 135 sporadic (s-bvFTD; mean age 63.3 years; 34% female) and 99 familial (f-bvFTD; mean age 59.9; 48% female) bvFTD participants were identified. fbvFTD cases included 43 with known or presumed chromosome 9 open reading frame 72 (C9orf72) gene expansions, 28 with known or presumed microtubule-associated protein tau (MAPT) mutations, 14 with known progranulin (GRN) mutations, and 14 with a strong family history of FTD but no identified mutation.Results: Participants with f-bvFTD were younger and had earlier age at onset. s-bvFTD had higher total Neuropsychiatric Inventory Questionnaire (NPI-Q) scores due to more frequent endorsement of depression and irritability.Discussion: f-bvFTD and s-bvFTD cases are clinically similar, suggesting the generalizability of novel biomarkers, therapies, and clinical tools developed in either form to the other.