Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia.
Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia.
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前驱遗传性额颞叶痴呆的识别记忆和发散性认知特征。
DOI：
10.1016/j.cortex.2021.03.006
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发表时间：
2021-06
期刊：
影响因子：
--
通讯作者：
ALLFTD consortium
中科院分区：
文献类型：
--
作者：
Barker MS;Manoochehri M;Rizer SJ;Appleby BS;Brushaber D;Dev SI;Devick KL;Dickerson BC;Fields JA;Foroud TM;Forsberg LK;Galasko DR;Ghoshal N;Graff-Radford NR;Grossman M;Heuer HW;Hsiung GY;Kornak J;Litvan I;Mackenzie IR;Mendez MF;Pascual B;Rankin KP;Rascovsky K;Staffaroni AM;Tartaglia MC;Weintraub S;Wong B;Boeve BF;Boxer AL;Rosen HJ;Goldman J;Huey ED;Cosentino S;ALLFTD consortium
虽然执行功能障碍是行为变异型额颞叶痴呆（bvFTD）的特征性认知标志物，但情景记忆缺陷相对常见，甚至可能在前驱期出现。在一组具有与前驱期bvFTD一致的轻度行为和/或认知症状的突变携带者中，我们旨在研究缩略列表学习任务的表现模式，特别关注识别记忆。我们进一步旨在描述与额颞叶痴呆的三个主要遗传原因相关的认知功能，因为新出现的证据表明，不同基因突变的携带者之间的认知特征可能存在细微差异。受试者包括57名微管相关蛋白tau（MAPT，N=23）或颗粒蛋白前体（GRN，N=15）致病性突变，或9号染色体开放阅读框72（C9 orf 72，N=19）六核苷酸重复扩增的携带者，伴有与前驱期bvFTD一致的轻度认知和/或行为症状。家族性非携带者作为对照（N=143）。所有参与者都完成了全面的神经心理学检查，包括评估情景记忆回忆和识别的简短列表学习测试。MAPT突变携带者在列表回忆方面比非携带者表现更差，并且在识别记忆任务中难以区分目标和干扰物，主要是由于将干扰物作为目标的认可。MAPT突变携带者也表现出非言语情景记忆和语义记忆功能障碍（物体命名）。GRN突变携带者的表现是可变的，总体上是最不正常的。C9 orf 72重复扩增携带者的心理活动速度明显减慢。确定bvFTD的最早认知指标具有重要的临床和研究意义。列表学习可能是早期痴呆的MAPT和潜在的GRN携带者的一个子集的一个敏感的认知标记。我们的研究结果强调，在前驱期疾病阶段，三种致病基因的携带者可能具有明显的认知特征。
Although executive dysfunction is the characteristic cognitive marker of behavioral variant frontotemporal dementia (bvFTD), episodic memory deficits are relatively common, and may be present even during the prodromal disease phase. In a cohort of mutation carriers with mild behavioral and/or cognitive symptoms consistent with prodromal bvFTD, we aimed to investigate patterns of performance on an abbreviated list learning task, with a particular focus on recognition memory. We further aimed to characterize the cognitive prodromes associated with the three major genetic causes of frontotemporal dementia, as emerging evidence suggests there may be subtle differences in cognitive profiles among carriers of different genetic mutations. Participants included 57 carriers of a pathogenic mutation in microtubule-associated protein tau (MAPT, N=23), or progranulin (GRN, N=15), or a or a hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72, N=19), with mild cognitive and/or behavioral symptoms consistent with prodromal bvFTD. Familial non-carriers were included as controls (N=143). All participants completed a comprehensive neuropsychological examination, including an abbreviated list learning test assessing episodic memory recall and recognition. MAPT mutation carriers performed worse than non-carriers in terms of list recall, and had difficulty discriminating targets from distractors on the recognition memory task, primarily due to the endorsement of distractors as targets. MAPT mutation carriers also showed nonverbal episodic memory and semantic memory dysfunction (object naming). GRN mutation carriers were variable in performance and overall the most dysexecutive. Slowed psychomotor speed was evident in C9orf72 repeat expansion carriers. Identifying the earliest cognitive indicators of bvFTD is of critical clinical and research importance. List learning may be a sensitive cognitive marker for incipient dementia in MAPT and potentially a subset of GRN carriers. Our results highlight that distinct cognitive profiles may be evident in carriers of the three disease-causing genes during the prodromal disease stage.
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影响因子：
38.1
作者：
Grossman, Murray
通讯作者：
Grossman, Murray
DOI：
10.1017/s1355617718001005
发表时间：
2019-02-01
影响因子：
2.6
作者：
Cheran, Gayathri;Wu, Liwen;Cosentino, Stephanie
通讯作者：
Cosentino, Stephanie
DOI：
10.1016/j.nicl.2016.12.006
发表时间：
2017
期刊：
NeuroImage. Clinical
影响因子：
--
作者：
Lee SE;Sias AC;Mandelli ML;Brown JA;Brown AB;Khazenzon AM;Vidovszky AA;Zanto TP;Karydas AM;Pribadi M;Dokuru D;Coppola G;Geschwind DH;Rademakers R;Gorno-Tempini ML;Rosen HJ;Miller BL;Seeley WW
通讯作者：
Seeley WW
影响因子：
4
作者：
Bertoux, Maxime;Flanagan, Emma C.;Hornberger, Michael
通讯作者：
Hornberger, Michael
影响因子：
9.9
作者：
Hornberger, M.;Piguet, O.;Hodges, J. R.
通讯作者：
Hodges, J. R.