具有 MAPT 突变的语义变异型原发性进行性失语症的临床特征和生物标志物。
Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation.
机构信息
Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, 154 Anshan Road, Heing District, Tianjin, 300052, China.
Department of Neurology, Affiliated Hospital of Hebei University, Baoding, 071000, Hebei, China.
出版信息
Alzheimers Res Ther. 2023 Jan 27;15(1):21. doi: 10.1186/s13195-023-01176-y.
BACKGROUND
Semantic variant primary progressive aphasia (svPPA) is generally sporadic, with very few reports of tau pathology caused by MAPT mutations.
METHODS
A 64-year-old man was diagnosed with svPPA with MAPT P301L mutation. Clinical information, cognitive and language functions, multimodal magnetic resonance imaging (MRI), blood biomarkers, fluorodeoxyglucose (FDG) imaging and tau positron emission tomography (PET) were obtained.
RESULTS
Semantic memory impairment was the earliest and most prominent symptom in this family. Tau accumulation and hypometabolism were observed prior to brain atrophy in mutation carriers. Plasma NfL and GFAP concentrations were elevated in the two svPPA patients. Some relative decreases and some relative increases in regional cerebral blood flow (CBF) as measured by arterial spin labelling (ASL) were observed in mutation carriers compared to noncarriers.
CONCLUSIONS
This study describes a large svPPA-affected family with the MAPT P301L mutation and provides an ideal model for inferring underlying pathology and pathophysiological processes in svPPA caused by tauopathies.
背景
语义变异原发性进行性失语症（svPPA）通常为散发性，由 MAPT 突变引起的 tau 病理学的报道非常少。
方法
我们诊断了一名 64 岁的男性患有 svPPA，其携带 MAPT P301L 突变。我们获得了该患者的临床信息、认知和语言功能、多模态磁共振成像（MRI）、血液生物标志物、氟脱氧葡萄糖（FDG）成像和 tau 正电子发射断层扫描（PET）。
结果
语义记忆障碍是该家系中最早且最突出的症状。tau 积累和低代谢先于突变携带者的脑萎缩发生。两名 svPPA 患者的血浆 NfL 和 GFAP 浓度升高。与非携带者相比，动脉自旋标记（ASL）测量的突变携带者的局部脑血流（CBF）存在一些相对减少和一些相对增加。
结论
本研究描述了一个携带 MAPT P301L 突变的大型 svPPA 受累家系，并为推断 tau 病引起的 svPPA 的潜在病理学和病理生理学过程提供了理想的模型。
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