机构：[1]Tianjin Med Univ Gen Hosp, Tianjin Neurol Inst, Dept Neurol, 154 Anshan Rd, Tianjin 300052, Peoples R China[2]Affiliated Hosp Hebei Univ, Dept Neurol, Dept Neurol, Baoding 071000, Hebei, Peoples R China医疗神经内科河北大学附属医院[3]Tianjin Med Univ, Gen Hosp Airport Site, Dept Neurol, Tianjin, Peoples R China[4]Tianjin Med Univ Gen Hosp, Dept PET CT Diagnost, Tianjin 300052, Peoples R China[5]Tianjin Med Univ Gen Hosp, Dept Radiol, Tianjin, Peoples R China[6]Tianjin Med Univ Gen Hosp, Tianjin Key Lab Funct Imaging, Tianjin, Peoples R China
BackgroundSemantic variant primary progressive aphasia (svPPA) is generally sporadic, with very few reports of tau pathology caused by MAPT mutations.MethodsA 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.ResultsSemantic 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.ConclusionsThis 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.
基金：
The study was funded by the National Natural Science Foundation of China
(Grant Nos. 81870831 and 81601041), the Tianjin Health Science and Technology
Project (ZC20230), the Tianjin Education Commission Scientific Research
Project (Grant No. 2018KJ059), the New Century Talents of Tianjin Medical University
General Hospital (XSJ-2021-12) and the National Key Clinical Specialty
Construction Project of China and Tianjin Key Medical Discipline (Specialty)
Construction Project.
第一作者机构：[1]Tianjin Med Univ Gen Hosp, Tianjin Neurol Inst, Dept Neurol, 154 Anshan Rd, Tianjin 300052, Peoples R China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Xu Jing,Xia Yanmin,Meng Meng,et al.Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation[J].ALZHEIMERS RESEARCH & THERAPY.2023,15(1):doi:10.1186/s13195-023-01176-y.
APA：
Xu, Jing,Xia, Yanmin,Meng, Meng,Liu, Fang,Che, Ping...&Zhang, Nan.(2023).Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation.ALZHEIMERS RESEARCH & THERAPY,15,(1)
MLA：
Xu, Jing,et al."Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation".ALZHEIMERS RESEARCH & THERAPY 15..1(2023)
医学