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Qing-Qing Tao,1 Rong-Rong Lin,1 Zhi-Ying Wu1,2 1Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, People’s Republic of China; 2MOE Frontier Science Center for Brain Science and Brain-Machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, People’s Republic of ChinaCorrespondence: Zhi-Ying Wu, Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, People’s Republic of China, Email zhiyingwu@zju.edu.cn

Ling-Qi Ye,1,2 Pei-Rong Gao,1 Yan-Bin Zhang,1,3 Hong-Rong Cheng,1,4 Qing-Qing Tao,1 Zhi-Ying Wu,1 Hong-Lei Li1 1Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, People’s Republic of China; 2Department of Rehabilitation Medicine and Rehabilitation & Sports Medicine Research Institute of Zhejiang Province, Zhejiang Provincial People’s Hospital, People’s Hospital of Hangzhou Medical College, Hangzhou, People’s Republic of China; 3Department of Neurology and Institute of Neurology in First Affiliated Hospital, Fujian Medical University, Fuzhou, People’s Republic of China; 4Department of Neurology in Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, People’s Republic of ChinaCorrespondence: Hong-Lei LiDepartment of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, People’s Republic of ChinaTel/Fax +86-571-87783569Email lihonglei@zju.edu.cnBackground: Studies concerning the impact of the AT(N) framework on diagnostic capability in the dementia population are lacking. We aimed to explore the diagnostic application of CSF AT(N) framework in clinical routines of Alzheimer’s disease (AD) as well as differential diagnosis of other cognitive diseases in the Chinese Han population.Patients and Methods: A total of 137 patients with cognitive disorders received CSF tests of Aβ42, t-tau and p-tau181. Their CSF biomarker results were categorized and interpreted by the AT(N) framework. Neurologists provided a diagnosis both pre- and post-CSF biomarker disclosure with corresponding diagnostic confidence.Results: The total initial diagnosis included 79 pa

Li-Hong Han,1,2,* Yan-Yan Xue,1,* Yi-Cen Zheng,3 Xiao-Yan Li,1 Rong-Rong Lin,1 Zhi-Ying Wu,1 Qing-Qing Tao1 1Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, People’s Republic of China; 2Department of Neurology, Second People’s Hospital of Luqiao District, Taizhou, People’s Republic of China; 3Department of Psychology, Tulane University School of Science and Engineering, New Orleans, LA, USA*These authors contributed equally to this workCorrespondence: Zhi-Ying Wu; Qing-Qing Tao Email zhiyingwu@zju.edu.cn; qingqingtao@zju.edu.cnObjective: Early-onset dementia (EOD) is a relatively uncommon form of dementia that afflicts people before age 65. Only a few studies analyzing the genetics of EOD have been performed in the Chinese Han population. Diagnosing EOD remains a challenge due to the diverse genetic and clinical heterogeneity of these diseases. The aim of this study was to investigate the genetic spectrum and clinical features of Chinese patients with EOD.Materials and Methods: A total of 49 EOD patients were recruited. Targeted next-generation (NGS) analyses were performed to screen for all of the known genes associated with dementia. Possible pathogenic variants were confirmed by performing Sanger sequencing. The genetic spectrum and clinical features of the EOD patients were analyzed.Results: Seven previously reported pathogenic variants (p.I213T and p.W165C in PSEN1; p.D678N in APP; c.1349_1352del in TBK1; p.P301L and p.R406W in MAPT; p.R110C in NOTCH3) and two novel variants of uncertain significance (p.P436L in PSEN2; c.239-11G>A in TARDBP) were identified.Conclusion: Our study demonstrated the genetic spectrum and clinical features of EOD patients, and it reveals that genetic testing of known causal genes in EOD patients can help to make a precise diagnosis.Keywords: Chi

Yun Zhang, Ting Gao, Qing-Qing Tao Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China Purpose: The number of cognitive deterioration patients has been steadily increasing as the population ages in China. Patients with cognitive deterioration demonstrated diverse patterns, often making the diagnosis difficult, especially in rapidly progressive cognitive deterioration (RPCD) patients. The purpose of this study was to exhibit the disease spectrum and frequency of noncerebrovascular RPCD in patients from a medical college hospital of southeastern China.Materials and methods: We performed a 2-year retrospective cohort study including 310 RPCD patients who had been admitted to the Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, from January 1, 2015 to December 31, 2016. RPCD patients’ information on epidemiologic data and clinical aspects were collected. All the data were analyzed using SPSS.Results: Of a total of 310 patients hospitalized for RPCD diagnosis, mean age of onset was 55.92±18.89 years. The most common cause of RPCD was viral encephalitis, accounting for 21.9% (68) of the cases, followed by Alzheimer’s disease and autoimmune encephalitis, accounting for 14.5% (45) and 9.0% (28) of the cases, respectively. Creutzfeldt–Jakob disease accounted for 7.1% (22) of the cases. Patients in the secondary RPCD group tended to be younger than those in the primary RPCD group and experienced a more rapid progression course.Conclusion: Our study suggests that the most common causes of RPCD are secondary neurological diseases and most of them are potentially reversible under appropriate treatment of the underlying disease. The spectrum and frequency of RPCD in our cohort is comparable with a previous study performed in the European population. Keywords: cognitive deterioration, spectrum, pri