Gallucci Maurizio, Da Ronch Chiara, Bendini Matteo, Fiore Vittorio, Turolla Licia, Ferrarini Moreno, Fabrizi Gian Maria, Tiraboschi Pietro
Cognitive Impairment Center, Local Health Authority n.2 Marca Trevigiana, Treviso, Italy.
Associazione Alzheimer Treviso ODV, Treviso, Italy.
J Alzheimers Dis Rep. 2024 Dec 8;8(1):1649-1660. doi: 10.1177/25424823241302743. eCollection 2024.
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.
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.
Clinical, neuropsychological, computed tomography, magnetic resonance imaging, F-fluorodeoxyglucose and F-Flutemetamol positron emission tomography (PET), dopamine-transporter-single-photon emission computed tomography imaging, electroencephalography, and genetic evaluations were conducted.
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 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.
The clinical case highlights the phenotypic variability of this entity.
行为变异型额颞叶痴呆通常表现为行为和人格改变、社交脱抑制、淡漠及缺乏同理心，其特征为额叶和颞叶萎缩。皮质基底节综合征的特征为不对称性不自主运动、强直、失用症、震颤、肌张力障碍及皮质感觉缺陷。
我们报告一例59岁与前颗粒蛋白基因缺失相关的额颞叶表现及帕金森综合征患者。我们还报告了做出诊断所需的临床检查。
进行了临床、神经心理学、计算机断层扫描、磁共振成像、氟脱氧葡萄糖和氟代甲磺酸美他莫昔芬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成像、脑电图及基因评估。
我们的患者最初表现为执行功能和记忆缺陷，伴有淡漠和自主能力丧失。随后，认知缺陷与帕金森样运动障碍和失用症相关。结构影像显示右侧颞叶和岛叶起始萎缩，PET影像显示右侧额颞叶代谢减低且皮质无淀粉样蛋白。分子分析显示该基因存在杂合缺失c.813_816delCACT。该变异在文献中被报道为致病性的，与常染色体显性额颞叶痴呆和皮质基底节变性相关。我们的患者表现出与已描述家族成员不同的临床特征。在这些家族中，一些患者立即出现具有锥体外系特征的运动综合征，或从未出现锥体外系体征。一些受试者主要表现为语言功能障碍，而另一些从未出现记忆障碍。
该临床病例突出了这一疾病实体的表型变异性。
