额颞叶变性伴皮质基底综合征的粒前蛋白基因缺失一例TREDEM病例报告。

IF 2.8 Q2 NEUROSCIENCES
Journal of Alzheimer's disease reports Pub Date : 2024-12-08 eCollection Date: 2024-01-01 DOI:10.1177/25424823241302743
Maurizio Gallucci, Chiara Da Ronch, Matteo Bendini, Vittorio Fiore, Licia Turolla, Moreno Ferrarini, Gian Maria Fabrizi, Pietro Tiraboschi
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引用次数: 0

摘要

背景:行为变异性额颞叶痴呆通常表现为行为和人格改变、社交去抑制、冷漠和缺乏共情,其特征是额叶和颞叶萎缩。皮质基底综合征的特征是不对称的不自主运动、强直、失用症、震颤、肌张力障碍和皮质感觉缺陷。目的:我们提出的情况下,59岁的患者额颞部的表现和帕金森病与前颗粒蛋白基因缺失。我们还报告了达到诊断所需的临床检查。方法:进行临床、神经心理学、计算机断层扫描、磁共振成像、18f -氟脱氧葡萄糖和18f -氟替他莫正电子发射断层扫描(PET)、多巴胺转运体-单光子发射计算机断层扫描、脑电图和遗传评价。结果:我们的患者最初表现为执行和失忆缺陷,同时存在冷漠和自主性丧失。随后,认知缺陷与帕金森样运动障碍和失用症相关。结构图像显示右侧颞叶和岛叶萎缩,PET图像显示右侧额颞叶代谢低下和皮层淀粉样蛋白缺失。分子分析显示GRN基因存在c.813_816delCACT杂合缺失。该变异在文献中被认为是致病的,并与常染色体显性额颞叶痴呆和皮质基底变性有关。我们的病人表现出不同的临床特征与那些已经描述的家庭成员。在这些家庭中,一些患者要么立即出现锥体外系特征的运动综合征,要么从未出现锥体外系体征。一些受试者表现出普遍的语言功能障碍,而另一些受试者从未出现记忆障碍。结论:该临床病例突出了该实体的表型变异性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A progranulin gene deletion in frontotemporal lobar degeneration with corticobasal syndrome in a TREDEM case report.

Background: Behavioral variant frontotemporal dementia usually presents with behavioral and personality changes, social disinhibition, apathy, and lack of empathy, and is characterized by atrophy of the frontal and temporal lobes. Corticobasal syndrome is characterized by asymmetrical involuntary movements, rigidity, apraxia, tremor, dystonia, and cortical sensory deficits.

Objective: We present the case of a 59-year-old patient with a frontotemporal presentation and parkinsonism linked to progranulin gene deletion. We also report the clinical workup needed to reach the diagnosis.

Methods: Clinical, neuropsychological, computed tomography, magnetic resonance imaging, 18F-fluorodeoxyglucose and 18F-Flutemetamol positron emission tomography (PET), dopamine-transporter-single-photon emission computed tomography imaging, electroencephalography, and genetic evaluations were conducted.

Results: Our patient presented initially with executive and mnesic deficits along with the presence of apathy and loss of autonomy. Subsequently the cognitive deficits became associated with parkinsonian-like movement disorders and apraxia. Structural images showed right onset temporal and insular atrophy, and the PET images demonstrated right frontotemporal hypometabolism and the absence of amyloid in the cortex. The molecular analysis revealed a heterozygous deletion c.813_816delCACT on the GRN gene. This variant has been reported in the literature as pathogenic and associated with autosomal dominant frontotemporal dementia and corticobasal degeneration. Our patient presented different clinical features than those of the members of the families already described. In these families, some patients either presented immediately with motor syndrome with extrapyramidal features, or never developed extrapyramidal signs. Some subjects presented prevalent language dysfunction while others never presented memory disorders.

Conclusions: The clinical case highlights the phenotypic variability of this entity.

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