• ISSN 2096-5516 CN 10-1536/R
  • Sponsored: China Association for Alzheimer’s Disease

Special issue

Case report
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  • Zhihong HUANG, Fan ZHANG, Junqing GUO, Cong ZHANG, Guoyong ZENG
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    Objective: To report a case of frontotemporal dementia who was misdiagnosed as primary psychosis. Methods: To analyze the clinical and neuroimaging features of a patient with behavioral variant frontotemporal dementia. Results: This case included a middle-aged female with mental abnormality at first, and was diagnosed as depression and schizophrenia successively in other hospitals. After treatment with related drugs, the effect was poor. Head MRI in our hospital showed bilateral frontotemporal lobe atrophy, with the left side obvious. Cranial 18F-FDG PET showed decreased metabolism in bilateral lateral frontal and temporal lobes. Ftd-related genetic testing found that the patient had a susceptibility gene mutation. Conclusion: This is a typical case of bvFTD, which was misdiagnosed as primary psychosis at an early stage, suggesting that the possibility of bvFTD should be considered in the diagnosis of mental disorders.

  • Qingqing YE, Huan LE, E TANG, Jingjiao LIU, Qing LIU
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    Objective: Logopenic variant primary progressive aphasia (lvPPA) is rare neurodegenerative disease, and characterized by a progressive impairments of specific language functions. More recently studies have shown that some cases have underlying Alzheimer’s disease pathology. the atypical AD with non-amnesic syndrome is more likely to be misdiagnosed and missed. we report a case with a logopenic variant of primary progressive aphasia with non-fluent dyslexia as the initial symptom. The description of this case provide clinical experience in the diagnosis and treatment of atypical AD. Methods: We detail the whole clinical course, including its neurolinguistic study, magnetic resonance imaging (MRI), and treatment. In addition, we reviewed the literature and provide a summary of the characteristics, complications, treatment, and prognosis of these cases. Results: The primary progressive aphasia of early atypical AD-Logopenic variant was characterized by early spontaneous speech and difficulty in picking.

  • TU Zhilan, CHEN Shufen, CHEN Keliang, HUANG Yuyuan, CUI Mei, DONG Qiang, YU Jintai
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    Objective: To investigate the characteristic of rapid progressive dementia with Lewy bodies (DLB), improve the knowledge of DLB for clinicians. Methods: we collected the clinical data, neuropsychological data and brain neuroimages of a case of DLB and reviewed relative articles. Results: The patient showed rapid progressive dementia with motor symptoms, vivid visual hallucinations, and rapid eye movement sleep disorder at night, which is consistent with the characteristic manifestations of Lewy body dementia. After treatment, the symptoms improved significantly, the patient had severe cognitive decline and inability to communicate in the begging, but he could carry out simple communication when he got out of hospital, he could walk by himself from bed in the begging to self-care when he left hospital. Conclusion: Some patients with Lewy body dementia may present with rapid progression of dementia. The identification of the characteristic symptomatology of Lewy body dementia is helpful for the diagnosis of Lewy body dementia.

  • Yong XU, Jun WANG, Hongzheng WANG, Yanjiang WANG, Zhaorui LIU, Jintai YU, Zhi ZHOU, Dantao PENG, Baijun GU, Kuncheng LI, Qinghua HOU, Xin MA, Xiaoming WANG, Zhiwen WANG, Huifang WANG, Bin TANG
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    According to the National Bureau of Statistics of China in 2023, the population aged > 60 in China is about 280 million, accounting for approximately 19.84% of the total population. Among them, the population aged > 65 is about 210 million, accounting for approximately 14.86% of the total population. China has rapidly entered a deep aging society. The aging population has also brought about a rapid increase in age-related disabilities and diseases, bringing a heavy burden to society and families. Among them, Alzheimer's disease (AD) is the most common type of dementia in the elderly and one of the most common causes of loss of daily living abilities in the elderly. There are currently about 9.83 million AD patients in China, with a severe disease burden, which brings heavy medical, care, and economic burdens to families and society. It has become one of the most expensive, deadly, and burdensome diseases in current healthcare, seriously affecting public health and sustainable social development in China. However, the diagnostic and treatment rates of AD in China are still relatively low. Therefore, strengthening the prevention and treatment of AD, preventing and slowing down the occurrence and development of AD are urgent public health issues.
    This report is aimed at the most concerned issues of people and government agency, such as: What is the current basic data on Alzheimer's disease in China? Why is the awareness rate relatively increased but the patient's desire to seek medical treatment relatively low? Are there any effective measures to address this?
    This report summarizes the latest data available in various related fields, analyzes the current situation, problems, and trends of AD epidemiology, disease burden, diagnosis and treatment, risk factors, rehabilitation care, and disease screening in China, and proposes China's Alzheimer's disease prevention and control strategies, especially emphasized the importance of development of validated tools for screening and early diagnosis, the innovation of new drugs, and building and cultivating a nationwide network of localized social mutual assistance and support.
    This report is to aid medical professionals, AD patients, family members and caregivers, government policy makers, elderly care institutions, etc. as they consider performances to provide better support for patients, to propose the formulation of relevant health policies, and to further raise public awareness of AD, to alleviate the overall burden of AD disease, and promote the realization of healthy aging in China.

  • Xiaoling ZHONG, Haiyan LI, Dean GU, Jintai YU, Ling WANG
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    Objective: To report a case of atypical Wolfram syndrome (WS) presenting with encephalitis as the initial symptom. Methods: We conducted targeted region capture high-throughput sequencing for whole exome sequencing in a patient who presented with a 5-month history of headache, speech difficulties, and memory decline. Clinical data were collected, and the genetic sequencing results were reviewed in conjunction with relevant literature. Results:A 41-year-old male patient with a history of diabetes, migraines, high myopia, and hearing loss was admitted due to a 5-month history of headache, speech difficulties, and memory decline. Five months prior, he experienced sudden speech difficulties and inability to communicate. Brain MRI revealed high signal intensity on diffusion-weighted imaging (DWI) in the left temporal, insular, and parietal lobes, raising suspicion of encephalitis. Genetic metabolic disorders were considered, and further investigations were conducted for infectious diseases, autoimmune encephalitis, lactate levels, rheumatological markers, and thyroid function. Whole exome sequencing revealed a mutation in exon 8 of the WFS1 gene, specifically c.975C>A. In silico analysis using SIFT predicted this mutation to affect protein function, and Polyphen-2 predicted it as probably damaging. The American College of Medical Genetics and Genomics (ACMG) guidelines indicated that the clinical significance of this variant is uncertain. Familial verification involving the patient's aunt, sister, uncle, and maternal aunt revealed concurrence of the mutation with the patient's uncle and maternal aunt. Unlike most reported literature, the patient's imaging did not display significant optic nerve, brainstem, or cerebellar atrophy. Conclusion: Atypical presentations of WS as encephalitis-like episodes are rare. In patients with multisystem involvement, in addition to considering immunological, metabolic, and neoplastic causes, rare hereditary conditions should also be considered.

  • Xianglin LIU, Jianyi LIU, ling JIN, Yunchun GAO, Shiying HONG, Jianming ZHU
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    Objective: To analyze the clinical characteristics of 4 patients with probable sporadic Creutzfeldt-Jakob disease (SCJD) and to improve the knowledge of sCJD. Methods: From August 2018 to May 2022,the datas of 4 patients with sCJD from Department of Neurology, Changde Hospital, Xiangya School of Medicine, Central South University,were analyzed. Results:All of the 4 patients had subacute onset. The main clinical features included rapidly progressive dementia, cerebellar symptoms, pyramidal tract sign, visual symptoms, muscle spasm, and immobility mutism. Asymmetric lace-like hyperintensities along the cortex, basal ganglia, and hockey-stick sign were seen on diffusion-weighted imaging (DWI). The electroencephalo-gram showed diffuse slow wave, and the late stage of the disease showed periodic three-phase wave. 14-3-3 protein of CSF were examined in all patients and all were positive. All patients died within 3 months after onset. Conclusion: rapid progressive dementia occurs in the middle- aged and elderly patients, especially with the cortical hyperintensity on DWI sequence. It is necessary to be alert to creutzfeldt-jakob disease, Multiply examine the magnetic resonance imaging of head, electroencephalography,and 14-3-3 protein of cerebrospinal fluid,to avoid misdiagnosis.

  • Shuang WU, Ping YUAN, Xiu CHEN, Liang CAI, Minli OU, Zhiyu LV
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    Objective:Alzheimer's disease (AD) is a neurodegenerative disease. In recent years, the sortilin-related receptor 1 (SORL1) has received more and more attention as a risk gene of Alzheimer's disease. One case of early-onset Alzheimer's disease (EOAD) with SORL1 gene mutation is reported. Methods: Clinical data of an AD patient suffered with the mutation of SORL1 were collected, including information on the patient's medical history, neurological examination, neuropsychological examination, routine tests, MRI, PET-CT, and genetic testing. The relevant literature was reviewed. Results:A 55-year-old female with memory loss as the main cause in the early stage, followed by a persistent decline in various cognitive functions such as calculation, accompanied by extrapyramidal symptoms such as increased muscle tone, bradykinesia, and synkinesia. She was unable to take care of herself in the daily life. Brain MRI showed cerebral atrophy, especially on the temporal lobe and hippocampus. By genetic testing, the patient was found with the c.5744A> G mutation in exon 43 of the SORL1 gene, at position 1915 resulting amino Y instead of C. Conclusion: Clinical signs, imaging, cerebrospinal fluid abnormalities, and the SORL1 gene mutation all support the diagnosis of EOAD. In this example, extrapyramidal symptoms contribute to the enrichment of SORL1 mutation-associated EOAD clinical characteristics, which is indicative for clinical diagnosis and treatment.

  • Biyi ZHOU, Lisha WU, Yang FENG, Tao XIE, Hui DONG, Binbin WANG, Peng YANG, Jianing YANG, Haoran WU, Ruihan MIAO, Xiaoyun LIU
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    Amyotrophic lateral sclerosis(ALS) is a degenerative disease of the nervous system that selectively involves spinal cord anterior horn cells, brain stem motor nucleus, cortical pyramidal cells and pyramidal tract, with damage to upper and (or) lower motor neurons. ALS is the most common type of motor neuron disease(MND). Because ALS is insidious in onset, long in course, slow in progress, diverse in manifestations, poor in prognosis, timely diagnosis is a key factor in early intervention and therapy. This paper reports a case of ALS with DCTN1 gene mutation and parkinsonism with cognitive impairment, and analyzes its clinical manifestations and genetic evaluation. Analysis and discussion in combination with literature review will help deepen the identification of ALS..

  • Gaofu XIA, Fengling YOU, Jing CAI
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    Alzheimer's disease (AD) is a neurodegenerative disease characterised by progressive cognitive decline.Gene mutations of multiple coding-related proteins have been found to be related to the onset of AD, mainly APP, PSEN1 and PSEN2.AD with PSEN2 gene mutation is relatively lacking in the Asian population. At the same time, because the age range of the onset of patients fluctuates greatly,some patients have no positive family history,so it is difficult to make a timely and clear diagnosis in clinical practice.In addition to AD as the main manifestation,the clinical manifestations of patients with PSEN2 mutations are usually accompanied by other related symptoms such as cone system, extrapyramidal symptoms,Parkinson-like symptoms,directional disorders, myoclonic and other symptoms.A patient with AD caused by missense mutation of PSEN2 gene (C.244a > C,p.Lys82Gln) was reported in this paper. The patient had an early onset age, with memory decline as the main manifestation and rapid progression, and was accompanied by obvious mental symptoms such as auditory hallucinations, hallucinations and delusions. This case report enriches the PSEN2 mutant gene database and plays a key role in the early diagnosis and treatment of AD.

  • Chunchun CHEN, Feiqi ZHU, Chunyan XU, Guozhen QIU, Qiwen GUO, Jiawen LI
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    Objective:To report a case with semantic dementia (SD)due to progranulin (GRN) gene mutation diagnosed by whole exon sequencing. Methods:The case history,neuropsychological assessment,neurological examination,radiological, and genetic findings were summarized.Results:The case is a 57-year-old female ,whose father died due to dementia at the age of 60.He developed at the age of 56 with speech impairment as the first symptom, particularly impaired naming and comprehension,accompanied by memory loss. Brain MRI showed atrophy involving the bilateral temporal lobes ,specially left anterior temporal. By whole exon sequencing.the proband was found with the mutation in exon 2 of the GRN gene.Conclusion:This case is diagnosed as semantic dementia due to GRN gene mutation.

  • LI Caiming, XU Junyang, ZHENG Yanxia, CHEN Qili, WU Chuyan, QIU Zhiwei, HUANG Wencheng
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    Objective: To explore the clinical features, pathogenesis, diagnosis and treatment of Anti-IgLON5 disease in order to improve the understanding of Anti-IgLON5 disease. Methods: The clinical manifestations, images, immune antibodies, and genetic testing results of a patient with Anti-IgLON5 disease were collected, and reviewed according to literatures. Results: A 61-year-old male patient with the main clinical manifestations of cognitive impairment, somnipathy, bulbar paralysis and epilepsy, cerebro-spinal fluid anti-IgLON5 IgG antibody positive (1:100), serum anti-IgLON5 antibody IgG positive (1:300), HLA haplotype DQB1*05:01-DRB1*10:01. He had received high dosage corticosteroid and Sodium valproate for epilepsy, and he recovered significantly. Conclusion: This article reports a case of Anti-IgLON5 disease whose main manifestations are cognitive impairment, somnipathy, bulbar paralysis and epilepsy, and he gets benefit from corticosteroid.

  • ZHU Feiqi, XU Chunyan, QIU Guozhen, GUO Qiwen, CHEN Chunchun
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    Objective: To report the differences in clinical manifestations and disease progression rate of 4 patients with early-onset Alzheimer's disease (AD) who were diagnosed with PS-1 gene heterozygous mutation by cerebrospinal fluid markers and gene detection. Methods: Four patients with early-onset dementia were examined by family history investigation, neuropsychological evaluation, physical examination of nervous system, MRI of head, AD markers in cerebrospinal fluid and whole exon sequencing. Results: The detection results of AD markers in cerebrospinal fluid of these four patients were all in line with the ATN diagnostic framework, and all of them were confirmed to be PS-1 heterozygous mutation by gene whole exon sequencing. Case 1 carried PS-1 heterozygous mutation site (c.1186G>A), and cases 2 and 3 carried the same heterozygous mutation site of PS-1 gene (c.791C>T). Case 2 carries the heterozygous mutation site of GRN gene (c.329G>A), and case 4 carries the heterozygous mutation site of PS-1 gene (c.265G>C), among which case 1, case 3 and case 4 all have family history of dementia, case 2 has no family history of dementia, and the onset age of case 2 and case 3 is the same, but the progress speed of case 2 is obviously faster than that of case 3. The onset age of case 4 was 38 years old, which was significantly earlier than that of other members of his family (50 years old). Case 4 had a history of concussion in childhood. Conclusion: Not all early-onset AD caused by PS-1 gene mutation have a family history of dementia, and de novo mutation is not uncommon. Different PS-1 gene mutation sites lead to different onset ages of AD, and the same PS-1 gene heterozygous mutation leads to the same onset age of AD. However, acquired factors including education level, complexity of work and brain trauma will also have a significant impact on the clinical manifestations and progress rate of early-onset AD caused by PS-1 gene mutation.

  • CUI Yadong, QI Zhigang, LU Jie
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    Objective: To report a case of frontotemporal dementia with typical clinical and neuroimaging findings. Methods: The clinical and neuroimaging findings of the reported case were analyzed. Results: The patient presented with bizarre social behavior without family history of related diseases. Antibodies related to paraneoplastic syndrome and autoimmune encephalitis were negative. Brain MRI showed atrophy of bilateral frontotemporal lobes and hippocampus with right predominance. 18F-FDG PET showed marked reduced FDG uptake in cingulate cortex and bilateral frontotemporal lobes. Conclusion: Neuroimaging can visualize the pathological changes of FTD, improve the diagnostic accuracy of FTD and its subtypes, and play an important role in the diagnosis, treatment and follow-up of FTD.

  • ZHU Yuan, YU Xiaoping, WANG Gang
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    To cope with the heavy economic and care burden on families and society due to the growing number of elderly people with Alzheimer's disease in China, we will provide relevant professionals with targeted norms and guiding documents. We developed this expert consensus which based on the references of domestic and foreign clinical guidelines, systematic reviews and original research, at the same time, we combined with the practice and experience of domestic clinical and nursing experts in related fields. The consensus include four aspects, the personnel requirements and facilities for dementia patients living at home, the specific content of care for dementia patients, the health resources and policy support of social care and transitional care from home to institution. The consensus will provide guidance and practical support for standardizing the home care of elderly patients with dementia based on community support.

  • Xiaoqiong TONG, Li WU, Qiaojun PENG, Zixin YANG, Li ZHANG, Xiaoming WANG
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    Objective: To characterize the clinical features of bilateral thalamic infarction due to artery of Percheron occlusion (AOP infarction) and assess cognitive impairment for the early diagnosis and timely treatment. Methods: A retrospective study of 5 cases (3 females, age range 56~84) of AOP infarction was performed. The data was collected between January 2014 and January 2022. The five cases were diagnosed by clinical diagnosis and imaging confirmation. All the patients underwent neuropsychological assessment on admission and at discharge. Results: Based on the imaging data, all cases were found to have bilateral thalamic infarctions affected by Percheron artery occlusion. Specifically, 5 cases suffered cognitive dysfunction; 4 cases suffered conscious disturbance; and 1 cases suffered binocular vertical gaze paralysis. Conclusion: AOP infarction is characterized by cognitive dysfunction. In addition, earlier diagnose and treatment should be given high attention.

  • Yiren QIN, Zheping ZHOU, Jing WANG, Hui DAI, Yueju WANG, Qun XUE
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    Objective: Rapid progressive dementia (RPD) is a kind of dementia syndrome with rapid progress. This paper reports a case of atypical cognitive impairment with rapid progress and discuss the reasons for the misdiagnosis of this type of cases. Methods: The diagnosis and treatment of a suspected RPD patient admitted to our hospital on November 17, 2021 were analyzed, and the related research progress was reviewed. The reliability of the diagnosis was retrospectively analyzed by comparing with domestic and international diagnostic criteria as well as literature for RPD, combined with symptoms, signs, a series of neuropsychological scales, cranial MR and other auxiliary examination results. Results: The diagnosis of rapidly progressive cognitive impairment in this case is questionable and has complex causes. Conclusion: The importance of consultation with caregivers and informed persons is of particular concern to physicians in the consultation of patients with cognitive impairment.

  • Shi TANG, Qinghua ZHANG, Xiaojuan HAN, Tingting HOU, Yifeng DU, Lin CONG
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    Objective: To report a case of atypical rapidly progressive dementia, so as to improve clinicians' understanding of the disease. Methods: The clinical manifestations, signs, cerebrospinal fluid and imaging results of a 67-year-old male patient were analyzed. Results: The patient was an elderly male with insidious onset and progressive exacerbation of the disease, with clinical manifestations of unsteady walking, personality changes, and cognitive decline in the later stage. 14-3-3 protein was positive in cerebrospinal fluid. Brain MRI showed multiple symmetrical abnormal signals in bilateral basal ganglia, thalamus, frontal and parietal cortex. Conclusion: Combined with the clinical manifestations, signs, cerebrospinal fluid and brain MRI results, Creutzfeldt-Jakob disease is very likely to be considered. The clinical manifestations of Creutzfeldt-Jakob disease are complex and easy to be missed.

  • Min LIU, Zhigang QI, Jie LU
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    Objective: To identify the neuroimaging manifestation of a patient with early-onset Alzheimer's disease through multimodal neuroimaging examinations and to evaluate its contribution in discrimination with behavioral variant frontotemporal dementia. Methods: The patient was diagnosed as early-onset Alzheimer's disease through multimodal neuroimaging combined with clinical presentation and cognitive assessment. Results: The patient presented cognitive function decline at the age of 58. His short-term memory and executive function declined with personality change. Brain magnetic resonance imaging (MRI) showed mild atrophy of bilateral posterior-frontal, parietal and temporal lobe, especially the bilateral parietal lobe atrophy was more obvious. MTA-scale of bilateral hippocampus was 1. 18F-fluorodeoxyglucose (18F-FDG) Positron emission tomography (PET) showed hypometabolism in the bilateral temporal cortex and hippocampus. 18F-florbetapir (18F-AV45) PET revealed amyloid burden on cerebral cortex. The patient was eventually diagnosed with early-onset Alzheime's disease (EOAD). Conclusion: For AD patient with atypical presentation, a comprehensive evaluation should be combined with clinical manifestations and neuroimaging examinations in the absence of cerebrospinal fluid evidence.

  • Hao WU, Feng LIU, Shuai LIU, Xiaodan WANG, Zhihong SHI, Yong JI
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    Objective: To explore the clinical and imaging features of Alzheimer's Disease(AD) - corticobasal syndrome(CBS) clinical manifestation. Methods: A CBS-AD patient was reported and the literature on CBS-AD was reviewed. Results: The patient, an elderly female, was characterized as speech disorder, limb apraxia, cognitive impairment and asymmetric Parkinson's syndrome with poor effect of levodopa. The MRI features showed atrophy of left frontotemporal parietal cortex, 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed asymmetric metabolism decrease in frontotemporal parietal cortex and basal ganglia, and 11C-Pittsburgh Compound B (PIB)-PET showed deposition of amyloid β-protein(Aβ) in cortex, which was diagnosed as CBS-AD. Conclusion: The clinical manifestation of AD - CBS is complex, and neuromolecular imaging is helpful for diagnosis and differential diagnosis.

  • GUO Qiwen, ZHU Feiqi, XU Chunyan, QIU Guozhen, CHEN Chunchun
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    Objective: Reported a case of suspected non-Alzheimer's disease pathophysiology (SNAP) to improve our understanding of the disease. Methods: Analyzed the clinical features, cerebrospinal fluid pathological biomarkers and imaging changes of SNAP, and reviewed relevant literature. Results: The patient was a middle-aged man with cognitive impairment,his neuropsychological scale assessment suggested moderate cognitive impairment, the level of Aβ42 and Aβ42/Aβ40 ratios in cerebrospinal fluid were all within the normal range, but the level of p-Tau181 was significantly increased, and MRI images showed significant bilateral hippocampus atrophy. Conclusion: The clinical diagnosis supported SNAP.

  • WEI Yan, WANG Jing
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    Objective: To report a patient with probable corticobasal degeneration, for increasing the clinician's awareness of the disease. Methods: The clinical manifestations, signs, cerebrospinal fluid and imaging results of a 67-year-old female patient were analyzed. Results: The patient was an elderly female with insidious onset. The clinical manifestations were poor right limb movement, no coordinated movement of the right upper limb, slow movement, labored speech. Elevated total tau protein in cerebrospinal fluid. Head MRI showed bilateral atrophy of the cerebral hemispheres, predominantly on the left side, and the left lateral ventricle was enlarged. 18F-FDG PET showed diffuse hypometabolism in both cerebral hemispheres, predominantly on the left side. Conclusion: Combined with the patient's clinical manifestations, signs, cerebrospinal fluid, head MRI and 18F-FDG PET results, the probable corticobasal degeneration was considered. The clinical manifestations of corticobasal degeneration are complex and easy to be misdiagnosed, so attention should be paid to it in clinical practice.

  • TANG Ruolan
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    Objective: Analyze the clinical characteristics, diagnosis and treatment of germinoma of nervous system to provide reference for the early clinical diagnosis and treatment of the disease. Methods:The clinical data, diagnosis and treatment data of 12 patients with germinoma of nervous system were collected. And the clinical characteristics, laboratory and imaging data, pathological examination results and and treatment were retrospectively analyzed. Results: Among the 12 patients, there were 9 males and 3 females. The mean age was 16.4 years. The mean time from clinical symptoms to disease diagnosis was 13.61 months. The nervous system involved the sellar region (pituitary) in 6 cases, pineal gland in 3 cases, basal ganglia in 1 case, pineal gland combined with basal ganglia in 1 case and thoracic in 1 case. On magnetic resonance,T1WI showed isosignal and low signal, and T2WI showed hypersignal, accompanied by varying degrees of enhancement. Pet-ct showed increased amino acid metabolism at the lesion site, and immunohistochemical results showed positive SALL4, OCT3/4, and CD117. After surgery, chemotherapy and radiotherapy, the patient’s symptoms were improved. There were no new symptoms at 3 months and 6months follow-up after discharge from hospital. Conclusion: Germinoma of the nervous system are mainly male patients, and the common site of involvement is sellar region. The clinical manifestations of different lesions are also inconsistent. Early diagnosis and treatment are of great significance to the prognosis of patients with this disease.

  • QIU Guozhen, XU Chunyan, GUO Qiwen, ZHU Feiqi
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    Alzheimer's disease (AD, also known as senile dementia) is a neurodegenerative disease characterized by progressive cognitive decline associated with behavioral and psychological symptoms and the reduction of daily activities. The pathological characteristics of AD include the deposition of amyloid beta (Aβ), neurofibrillary tangles (NFTs). The International Working Group (IWG) has divided AD into two different types, the typical form and the atypical form, the latter including the posterior variant, the logopenic variant and the frontal variant AD (FvAD). The most obvious clinical feature of patients with FvAD is the severe impairment on frontal lobe function. Feru-guard, a dietary supplement containing ferulic acid and Angelica archangelica, has attracted much interest recently due to the discovery of beneficial effects in the treatment of behavioral and psychological symptoms of dementia (BPSD). Here we present a case of improvement of cognitive dysfunction in a patient with FvAD after Feru-guard therapy.

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  • WANG Jing, XU Han-rui, HAN Cui-shi, WANG Wei, LIU Dang-zhi, QIAO Li-yan
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    Fornix infarction, also known as inferior callosal artery amnesia syndrome, is a special cerebral infarction with amnesia as the main clinical manifestation. The fornix is supplied by the inferior callosal artery which is a branch of the anterior communicating artery. The inferior callosal artery is a single artery and its occlusion often leads to bilateral fornix infarction. We report a case of bilateral fornix acute cerebral infarctions with memory loss as the first clinical manifestation. We also summarize the characteristic of fornix infarction combining literatures. Infarction of the fornix should be included in the differential diagnosis when patient present with acute onset amnesia because it is easily ignored in cerebral imaging.

  • Guo Fei, YANG Chun-shui, WANG Cheng-ya, ZHU Fei-qi
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    Alzheimer's Disease (AD) is a progressive neurodegenerative disorder, clinically characterized by memory loss, accompanied by misrecognition, executive dysfunction, and personality and behavioral changes, so it is also known as senile dementia.Usually AD is a chronic progressive disease with a course of about 10 years, but a few patients show rapidly progressive AD (rpAD).The characters of AD magnetic resonance image are the atrophies mainly in hippocampus and in frontal, temporal-parietal cortex, and accompanied by cerebral white matter degeneration and microhemorrhage.This paper reports a case of rpAD with cortical ribbon signs, and reviews its medical history, clinical manifestations, previous medical histories, family history of dementia, neurological physical examination, cranial MRI, EEG, cerebrospinal fluid AD markers, serum and cerebrospinal fluid markers of autoimmune encephalitis and paraneoplastic neurologival syndrome, and at last discusses the diagnostic process of this case.

  • CHEN Chun-chun, ZHU Fei-qi
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    Objective: To report a family with frontotemporal dementia (FTD)due to microtubule-associated protein tau (MAPT) gene mutation diagnosed by whole exon sequencing. Methods: The family history, neuropsychological assessment, neurological examination, radiological, and genetic findings were summarized.Results: The proband is a 58-year-old male, whose father and elder sister both died due to dementia at the age of over 60. He developed the age of 56 and presented with temper change, memory loss, reckless behavior, lack of compassion, repetitive movements and overeating, without body movement symptoms. The symptoms progressed gradually and was worsened after the treatment of donepezil. Brain MRI showed atrophy involving the bi—lateral frontal and temporal lobes, specially on the right side. By whole exon sequencing.the proband was found with the c.902C>T mutation in exon 9 of the MAPT gene, at position 301 resulting amino acid proline(P)instead of leucine(L).Conclusion: This family is diagnosed as frontotemporal dementia due to MAPT gene mutation.

  • JIANG Qian-wen, TANG Hui-dong
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    Object: Alzheimer's disease (AD) is a neurodegenerative disease characterized by progressive cognitive impairment. Several gene mutations encoding related proteins have been found to be associated with the pathogenesis of AD, the most common of which are amyloid precursor (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2). This paper reports a case of a sporadic AD caused by PSENS2 gene mutation, and summarizes its clinical manifestations and genetic characteristics.Methods: The clinical data of a case of AD caused by PSEN2 mutation were collected. The cognitive assessment, brain MRI, EEG, PET-CT were performed. The gene mutation was detected by exon capture sequencing after collecting the peripheral blood and extracting DNA. Results: A 71-year-old female consulted with manifestations of memory decline for 2 years and auditory visual hallucination for 2 months. The patient presented memory impairment, dominant by recent event memory since 2 years. She presented auditory visual hallucination, delusion of irregular attack since 2 months, accompanied by right hand static tremor. The effect of sertraline and aripiprazole was poor, and memantine was decreased because of deteriorate hallucination. The patient had no positive family history. The physical examination showed a conscious mind, slightly slow reaction, proper orientation of time and space, equal size and normal light reflex of bilateral pupils, eyebrow sign negative, normal muscle tension and strength, right hand static tremor, hand rotation test negative, pathological sign negative and no dystaxia. The score of Addenbrooke's cognitive examination (ACE-R) was 56/100 and mini mental state examination (MMSE) was 21/30. The brain MRI showed scattered lacunar foci in bilateral paraventricular, basal ganglia and frontoparietal lobes, and bilateral hippocampal atrophy (MTA=3). The PET-CT showed decreased metabolism of bilateral fronto-parietal and temporal lobes. The EEG showed mild to moderate diffuse and temporal abnormalities. The gene test showed PSEN2 mutation (NM_00047: c.G640T, p.V214L). Conclusions: AD caused by PSEN2 mutation is relatively rare in Asian population, of which the age of onset is very wide. Some patients have no positive family history. Besides main characteristics of AD, patients with PSENS2 mutation often present other manifestations such as pyramidal signs, extrapyramidal signs, orientation disorder, Parkinsonian symptoms, myoclonus, etc. The age of onset of the case of PSEN2 mutation reported was late, of which the first manifestation was memory decline, accompanied by significant mental symptoms such as auditory visual hallucination, delusion and extrapyramidal signs. The gene detection showed PSEN2 mutation (NM_00047: c.G640T, p.V214L), which enriched the type and clinical manifestation of PSEN2 gene mutation in Chinese AD patients, and provided help for the clinical diagnosis and treatment of AD.

  • XING Yong-hong, ZHOU Yu-ying, FENG Ke-ke, CHENG Yi-feng, YIN Shao-ya
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    Alzheimer's disease (AD) is a common central nervous system degenerative disease in middle-aged and elderly people, its etiology and pathogenesis are not very clear. Symptoms of Parkinson's disease maybe present in the middle and late stages of Alzheimer's disease, even in the early stages. In this study, we report a case of rapidly progressive Alzheimer's disease with extrapyramidal symptoms, and discuss the problems of diagnosis and treatment.

  • GUO Qi-wen, XU Chun-yan, QIU Guo-zhen, CHEN Chun-chun, MENG Xue-ya, LI Ming-kun, YU Yang, ZHU Fei-qi
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    Objective: In order to improve the diagnosis awareness and treatment level of the disease, we explore the clinical characteristics and treatment of Lewy body dementia. Methods: Research 14 patients with Lewy body dementia admitted to our hospital from July 2018 to August 2021, and retrospective analysis of their clinical manifestations, neurology physical examinations, auxiliary examinations and treatments. Results: Among the 14 patients, 6 were males and 8 were females, aged 61-91 years old, age of onset was (71.57±8.36) years old, and the course of disease was 6 months to 10 years. In the clinical manifestations, all patients had cognitive dysfunction, 13 cases (13/14) with fluctuating cognitive impairment, 14 cases (14/14) with Parkinson's symptoms, and 11 cases with visual hallucinations (11/14), 13 cases (13/14) with sleep disturbance, 9 cases (9/14) with abnormal sleep behavior of rapid eye movement, 11 cases with autonomic dysfunction (11/14), 11 cases (11/14) with anxiety and depression. The first symptom was cognitive dysfunction in 11 cases (11/14), Parkinson's symptom in 1 case (1/14), and RBD in 3 case (3/14). The prodromal symptoms such as sleep disturbance, RBD,constipation, depression,anxiety and Parkinson's symptoms occurred 1 to 29 years before the onset of cognitive impairment. At the current follow-up period of 4 months to 3 years, the cognitive dysfunction of all patients progressed gradually, and there were 6 cases of walking disorders, 2 cases of coughing when drinking water, 1 case of pneumonia, 1 case of speech difficulties, 5 cases of bedridden Conclusion: Lewy body dementia is a neurodegenerative disease with irreversible progression. The age of onset of patients is relatively late. The clinical features of cognitive dysfunction are more common, accompanied by fluctuating cognitive impairment,RBD,Parkinson's symptoms, visual hallucinations, sleep disorders, and autonomic nerves dysfunction and so on. Comprehensively understand the clinical characteristics of the disease, try to diagnose and treat as early as possible, and further improve the prognosis of the disease.

  • ZHANG Miao, ZHANG Hui-hong, CAI Li, ZHOU Yu-ying
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    objective: To analyze the cognitive, linguistic, psychobehavioral symptoms and imaging characteristics of patients with primary progressive aphasia (PPA). Methods: Of 4 patients diagnosed as PPA in the Memory Clinic of Tianjin Huanhu Hospital between April 2014 and March 2018, 1 patient with logopenic progressive aphasia(lvPPA),1 patient with progressive nonfluent aphasia (PNFA), 2 patients with semantic dementia(SD) were identified. Clinical data of the patients were collected. Cognitive function was measured by the Mini-Mental State Examination, Montreal Cognitive Assessment, Clinical Dementia Rating and China Rehabilitation Research Center Aphasia Examination. Also measured by NPI and HAMD depression scale. Brain magnetic resonance imaging was conducted to evaluate the cortex atrophy and medial temporal lobe atrophy. The 18F-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG-PET)and Pittsburg Compound B (PiB)PET cerebral imaging were performed in patients with atypical clinical and MRI demonstrations. Results: Among the 4 patients, 3 were male and 1 was female. The onset age was 58~71 years old, and the duration was 1~5 years. All 4 cases were right-handed. All the 4 patients had impaired memory and recall ability, repetitive language disorder and fluency of speech. LvPPA patients is characterized by difficulty in word extraction, naming and retelling, and difficulty in understanding complex sentences. Cognitive impairment progresses rapidly, and the activity of daily living is quickly impaired. Manifests as tension, irritability and fatigue. Head MRI showed bilateral parietal atrophy. PiB-PET shows amyloid deposits. FDG-PET showed decreased metabolism in bilateral temporo-parietal junction, bilateral precuneus and right frontal lobe. The early symptoms of PNFA patients are mainly verbal fluency, speech loss, and language clumsiness. It is difficult to repeat the sentence. The activity of daily living has less impact. The HAMD depression scale showed poor self-awareness. Head MRI showed atrophy of the frontotemporal lobe on the left.FDG-PET showed decreased metabolism in bilateral medial frontal, lateral, bilateral anterior cingulate, bilateral lateral temporal, left medial temporal, bilateral insula and bilateral caudate nucleus, and leftthalamus. The early main symptoms of SD patients are difficulty naming, poor comprehension and difficulty in finding words. The sentence retelling is poor, serious people can not read aloud or transcribe; Picture description and dictation are difficult. The NPI and HAMD scales showed depressive mood, anorexia and sleep disturbance. Head MRI showed bilateral frontal, parietal lobe, left temporal lobe atrophy. FDG-PET showed decreased metabolism of bilateral medial frontal, lateral, bilateral insula, left inner temporal, lateral and left caudate nuclei. Conclusion: PPA patients have different early cognitive,language disorders and mental and behavior disorder due to their anatomical basis. A detailed cognitive,language assessment and neuropsychiatric inventory questionnaire combined with head MRI and FDG-PET can help to identify the diagnosis early.

  • SONG Xiao-xuan, TANG Hui-dong
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    Object: Early-onset Alzheimer Disease (EOAD) is a relatively rare type of Alzheimer's disease. Due to the variable manifestations of EOAD, early diagnosis is difficult. Exploring the characteristics of EOAD is particularly important to improve the ability of physicians to diagnose and distinguish this disease. Methods: An EOAD patient appearing early psychiatric-behavioral symptoms without significant cortical atrophy was reported here. In addition, the literature on EOAD was reviewed. Results: The patient, a middle-aged female, was characterized as cognitive dysfunction with psychotic behavior abnormalities. She had been misdiagnosed with a psychiatric disorder. Motor symptoms developed after receiving olanzapine treatment and improved after stopping the drug. Auxiliary examinations showed abnormal deposits of amyloid and abnormal tangles of tau protein fibers, indicating EOAD. Conclusion: EOAD is easily misdiagnosed in its early stages. It needs to be differentiated with history taking, imaging, cerebrospinal fluid examination, and other supporting diagnoses.

  • LIU Ying, YANG Fu-xia, GU Chun-hui, WEI Wen-shi
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    Objective: To demonstrate a PSP patient which appeared iNPH-like magnetic resonance imaging (MRI) features. Methods: Analyze the diagnosis and treatment of a PSP patient in our hospital, and review the relevant research progress. Results: This patient presented with dyskinesia, stiff limbs, cognitive impairment, dysphagia and dyslalia; The MRI features conclude midbrain atrophy and signal changes.Midbrain atrophy presents “morning glory sign” in axial plane and “hummingbird sign” (HBS)in the median sagittal plane. The third and fourth ventricles were enlarged, the Evan's index>0.34. Cerebrospinal fluid (CSF) tap/shunt treatment in this case resulted in short-term benefits but subsequent deterioration ensued within one year. And the effect of large doses of dopa serazine was not good. Conclusion: This study demonstrated that some PSP patients develop iNPH-like MRI features, suggesting the presence of iNPH-like features in clinical spectrum of PSP. An awareness that PSP can mimic the clinical symptoms of iNPH may help to avoid invasive cerebrospinal fluid shunting procedures.

  • ZHOU Yi-ping, WEI Wen-shi
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    The incidence of thiamine deficiency (TD) induced by non-alcoholic diseases is very low, which is often neglected clinically, resulting in Wernicke encephalopathy (WE) or Korsakoff syndrome caused by the delay in the treatment of this disease. Few cases have been reported the association between the exacerbation of the psychiatric symptoms of Alzheimer's disease (AD) patient and thiamine deficiency. An old man with AD visited our clinic because of acute deterioration in psychological symptoms of dementia (BPSD), with a decrease in food intake lasting more than 1 month, symptoms were improved significantly after thiamine administration. It is recommended that the treatment with TD can be started in any situation where thiamine deficiency is suspected. The potential benefits brought by it far outweigh the risks of no treatment. Meanwhile, it is recommended that therapeutic administration of thiamine be commenced in any case where thiamine deficiency is suspected, the potential benefits to a patient with possible thiamine deficiency far outweigh the risks of not treating.

  • ZHU Fei-qi, XU Chun-yan, QIU Guo-zhen, GUO Qi-wen, MENG Xue-ya, LIN Yan-wei, CHEN Chun-chun
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    Objective: To investigate a case of corticobasal degeneration (CBD) due to Alzheimer's disease (AD). Method: The clinical symptoms, signs, imaging, cerebrospinal fluid biomarkers of AD and gene detection results of a 76-year-old male dementia patient were analyzed. Results: In the early stage, the patient showed involuntary shaking, stiffness and apraxia of the left upper limb, and decreased memory and language ability in the later stage. The muscle tension of the limbs increased and the left hand was apraxia. Head MRI: extensive cortical brain atrophy, obvious right parietal lobe, relatively mild bilateral hippocampal atrophy, with symmetrical white matter lesions in the anterior and posterior corners of bilateral lateral ventricle and beside lateral ventricle; The AD biomarkers in cerebrospinal fluid were Aβ42 166.09 pg/ml↓, Aβ40 5025.72 pg/ml, Aβ42/Aβ40 0.03↓, p-Tau181 37.96 pg/mL and T-Tau 284.35pg/mL, and T-Tau/Aβ42 1.712↑; APOE genotype is 4/4 type and heterozygous mutation of insulin degrading enzyme (IDE) gene. Conclusion: Combined with the clinical symptoms, signs, head MRI, cerebrospinal fluid markers of AD, APOE4/4 genotype and heterozygous mutation of IDE, it is supported that this patient is CBD caused by pathological changes of AD.

  • XU Chun-yan, QIU Guo-zhen, GUO Qi-wen, WU Kai-yu, CHEN Chun-chun, LI Ming-kun, MENG Xue-ya, ZHU Fei-qi
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    Objective: To explore the clinical characteristics of early on-set Alzheimer's disease (AD), improving the understanding of the diagnosis and treatment of the disease. Methods: This was a case-retrospective study on the data of clinical manifestations, neuropsychology, dynamic EEG and structural MRI of 18 early on-set AD patients who were proved with cerebral spinal fluid AD biomarkers. Results: The average age of 18 patients(6 males,12 females) with AD was 55.4 years old, and the average course of the disease was 5.6 years.17 patients suffered memory loss as initiate symptom, and 9 patients had family histories of dementia. The average score of MMSE was 14.3, and there existed 12 patients with moderate and severe dementia. Among 13 patients who accomplished gene whole-exon sequencing, we found 3 cases with PSEN1 mutations, 4 cases with SORL1 mutations, 1 case with ABCD7. At the same time, the carrying frequency of APOE gene ε2, ε3, ε4 in 18 patients was 1/36, 27/36 and 9/36, respectively. All 13 cases who accepted dynamic EEG testing showed abnormal EEGs with epileptiform discharge. The hippocampus atrophy of 8 patients was not significant. Conclusion: The clinical characteristics of the early on-set AD were hidden onset but developed fast. At the time of treatment, it has often been developed into severe dementia, with decline memory as initiate symptom and most patients have family history of dementia. Epilepsy discharge of EGG were detected more commonly in these patients, whose carrying rates of AD causing genes and AD risk genes were also higher than normal ones. And some cases had less hippocampus atrophy.

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  • GUO Qiwen, QIU Guozhen, WANG Yin, XU Chunyan, CHEN Chunchun, LIN Yanwei, MENG Xueya, ZHU Feiqi
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    This article reported a case of anti-leucine-rich glioma inactivation 1 protein (LGI1) antibody encephalitis. The patient was a middle-aged male, his clinical manifestations mainly were rapidly progressing cognitive dysfunction and intractable hyponatremia., brain MRIshowed hyperintensity in bilateral hippocampal, anti-LGI1 antibody of serum and cerebrospinal fluidwere both positive, then the diagnosis was anti-LGI1 antibody encephalitis. His cognitive dysfunction was significantly relieved after administration of glucocorticoid immunotherapy. This article analyzed the clinical characteristics of anti-LGI1 antibody encephalitis, and reviews related literature to alert middle-aged patients with sudden cognitive impairment. It was necessary to detect autoimmune encephalitis antibody markers in blood and cerebrospinal fluid, and actively immunize earlytreatment to control disease progression and improve prognosis.

  • YIN Jinhui, HUANG Yue, BIAN Xiuwu, CHEN Biao, CHEN Shengdi, CUI Huixian, DONG Gehong, GUO Huijun, HE Yuesong, PIAO Yueshan, TANG Beisha, WANG Detian, WU Anhua, ZHANG Yuqi, ZHOU Ren, ZHANG Liwei.
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    The human brain tissue bank is an institution dedicated to the development of neurology and neuroscience through collection, preservation, research and sharing of donated human brain tissues. In order to maintain environment and staff personal safety, it is necessary to establish standard operation procedure for prevention of potential contagious diseases. During autopsy or brain only autopsy, it is necessary to evaluate the biological safety grades beforehand, prepare for potential risks, adhere to the requirement of corresponding levels of biological safety, and establish biological safety system. Following standard biosafety procedure is vital for human brain and tissue banking. On the basis of consultation, literary and regulation searches, and our own experiences, this paper summarizes the biosafety standards and procedures for human brain and tissue banking as guidelines during practice.