Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort
| العنوان: | Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort |
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| المؤلفون: | Liling, Dong, Jie, Wang, Caiyan, Liu, Jie, Li, Chenhui, Mao, Xinying, Huang, Shanshan, Chu, Bin, Peng, Liying, Cui, Jing, Gao |
| المصدر: | Journal of Alzheimer's Disease. 89:893-901 |
| بيانات النشر: | IOS Press, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | China, C9orf72 Protein, General Neuroscience, Autophagy-Related Proteins, General Medicine, Psychiatry and Mental health, Clinical Psychology, Asian People, Frontotemporal Dementia, Mutation, Sequestosome-1 Protein, Humans, Primary Progressive Nonfluent Aphasia, Geriatrics and Gerontology, Adaptor Proteins, Signal Transducing |
| الوصف: | Background: There are relatively few data on the genetic spectrum of Chinese frontotemporal dementia (FTD) population. Objective: With the dementia cohort of Peking Union Medical College Hospital, we aim to illustrate the genetic spectrum of FTD patients, as well as the phenotypic heterogeneity of FTD-gene variant carriers. Methods: 204 unrelated, clinically diagnosed FTD patients of Chinese ancestry were enrolled. All the participants received demographic survey, history inquiry, physical examination, cognitive assessment, blood biochemical test, brain CT/MRI, and gene sequencing. Results: 56.4% (115/204) participants were clinically diagnosed with behavioral variant of FTD, 20.6% (42/204) with nonfluent/agrammatic variant primary progressive aphasia (PPA), 20.1% (41/204) with semantic variant PPA, and 2.9% (6/204) with mixed variant PPA. 11.8% (24/204) subjects harbored the potential causative variants in FTD-related genes, including the MAPT (n = 7), TBK1 (n = 7), GRN (n = 2), TBK1+GRN (n = 1), VCP (n = 1), TARDBP (n = 1), UBQLN2 (n = 1), SQSTM1 (n = 1), DCTN1 (n = 1), HNRNPA1 (n = 1), and C9orf72 GGGGCC repeats (n = 1). The TBK1 T31fs, T457fs, K622fs, c.359-1G>A, the VCP P188T, and the GRN P50fs, P439fs were novel pathogenic/likely pathogenic variants. The TBK1 carriers showed a later disease onset and a higher incidence of parietal atrophy relative to the MAPTcarriers. Conclusion: There is genetic and clinical heterogeneity among Chinese FTD population. The TBK1 has a high mutation frequency in Chinese FTD patients. |
| تدمد: | 1875-8908 1387-2877 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8912b4f63b56c6605aa4deeaff8fcc29Test https://doi.org/10.3233/jad-220594Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8912b4f63b56c6605aa4deeaff8fcc29 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18758908 13872877 |
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