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Article type: Research Article
Authors: Wu, Liyonga; b; 1; * | Liu, Jiaa; 1 | Feng, Xueyana | Dong, Jinga | Qin, Weia | Liu, Yanga | Wang, Jingjuanc | Lu, Jiec; d | Chen, Keweie | Wang, Yupinga | Jia, Jianpinga
Affiliations: [a] Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China | [b] National Clinical Research Center for Geriatric Disorders, Capital Medical University, Beijing, China | [c] Department of Nuclear Medicine, Xuanwu Hospital, Capital Medical University, Beijing, China | [d] Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing, China | [e] Banner Alzheimer’s Institute Phoenix, AZ, USA
Correspondence: [*] Correspondence to: Dr. Liyong Wu, Department of Neurology, Xuanwu Hospital, Capital Medical University, Changchun Street 45, Beijing 100053, China. E-mail: wmywly@hotmail.com.
Note: [1] These authors contributed equally to this work.
Abstract: Frontotemporal dementia with parkinsonism-linked to chromosome 17 (FTDP-17) is a rare autosomal dominant neurodegenerative disorder. Most patients with FTDP-17 carry the mutation in the microtubule-associated protein tau (MAPT) gene. Striatum is predominantly and early affected in FTDP-17. Five family members (two symptomatic patients and three presymptomatic mutation carriers) from a Chinese pedigree of FTDP-17 with N279K mutation in MAPT were enrolled. Parkinsonism was the initial symptom for symptomatic patients. 2b-carbomethoxy-3b-(4-trimethylstannylphenyl) tropane (11C-CFT) uptake was obviously affected in the putamen of two presymptomatic mutation carriers. Presymptomatic case 3, whose 11C-CFT uptake in the right putamen was normal at baseline, was still free of parkinsonism during follow-up. In conclusion, 11C-CFT-positron emission tomography could be a potential biomarker for the presymptomatic stage of FTDP-17 to predict the disease onset.
Keywords: 11C-CFT-PET, frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), microtubule-associated protein tau (MAPT), presymptomatic mutation carriers
DOI: 10.3233/JAD-170561
Journal: Journal of Alzheimer's Disease, vol. 61, no. 2, pp. 613-618, 2018
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