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Translational Neurodegeneration 2023年第1期12卷 546-549页

作者： Xiao-Yan Li Juan-Juan Xie Jin-Hong Wang Yu-Feng Bao Yi Dong Bin Gao Ting Shen Pei-Yu Huang Hao-Chao Ying Han Xu Anna Wang Roe Hsin-Yi Lai Zhi-Ying Wu department of Medical Genetics and Center for Rare diseases Department of Neurology in Second Affiliated HospitalKey Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouChina Interdisciplinary Institute of Neuroscience and Technology College of Biomedical Engineering and Instrument ScienceKey Laboratory for Biomedical Engineering of Ministry of EducationZhejiang UniversityHangzhouChina College of Computer Science and Technology Zhejiang UniversityHangzhouChina department of Radiology Second Affiliated HospitalZhejiang University School of MedicineHangzhouChina School of Public Health Zhejiang UniversityHangzhouChina MOE Frontier Science Center for Brain Research and Brain-Machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouChina CAS Center for Excellence in Brain Science and Intelligence Technology ShanghaiChina

Huntington’s disease(HD)is an autosomal dominant neurodegenerative disease that is caused by a cytosine-adenine-guanine(CAG)expansion in the first exon of the huntingtin(HTT)gene,which codes for the hun-tingtin *** typically manifests with a triad of symptoms,including motor disorders,cognitive impair-ment and psychiatric disturbances[1].HD primar-ily affects the basal ganglia(BG),especially the caudate and putamen,after which it extends to more widespread gray and white matter[2].Perivascular spaces(PVSs)are fluid-filled extensions of the subarachnoid spaces that enclose cerebral blood vessels and extend from the cer-ebral cortex through the brain *** physi-ological role of PVSs is the drainage of brain interstitial fluid into perivascular pathways for the elimination of waste products through the glymphatic drainage *** increasing number of studies have demonstrated that enlarged PVSs indicate glymphatic dysfunction and are associated with many neurological diseases,such as Alzheimer’s disease,Parkinson’s disease and small vessel disease[3].With the advantage of strong field strengths,7.0 T images show superior resolution and signal-to-noise ratios than 3.0 T,which facilitate the visualization of *** automated segmentation methods could accurately identify PVS in a short time with no inter-rater *** the current study,we used U-shaped networks(U-net),a class of deep learning methods,to explore the PVS distribution in HD and *** date,PVS distribution in HD is still *** two studies have investigated PVSs in HD,and both dem-onstrated increased visible PVS burden in manifest HD compared to controls[4,5].However,whether PVS bur-den increases in premanifest HD(pre-HD)individuals remains unknown,and the relationship of PVS with cog-nitive decline has never been studied.

关键词： Huntington filled elimination

Alzheimer’s disease early diagnostic and staging biomarkers revealed by large-scale cerebrospinal fluid and serum proteomic profiling

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The Innovation 2024年第1期5卷 118-126页

作者： Qing-Qing Tao Xue Cai Yan-Yan Xue Weigang Ge Liang Yue Xiao-Yan Li Rong-Rong Lin Guo-Ping Peng Wenhao Jiang Sainan Li Kun-Mu Zheng Bin Jiang Jian-Ping Jia Tiannan Guo Zhi-Ying Wu department of Neurology and Research Center of Neurology in the Second Affiliated Hospital and key laboratory of Medical neurobiology of Zhejiang province Zhejiang University School of MedicineHangzhou 310009China Liangzhu laboratory Zhejiang UniversityHangzhou 311100China Westlake laboratory of Life Sciences and Biomedicine Key Laboratory of Structural Biology of Zhejiang ProvinceSchool of Life SciencesWestlake UniversityHangzhou 310024China Institute of Basic Medical Sciences Westlake Institute for Advanced StudyHangzho 310024China department of Neurology First Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China department of Neurology First Affiliated HospitalSchool of MedicineXiamen UniversityXiamen 361009China Innovation Center for Neurological Disorders and department of Neurology Xuanwu HospitalCapital Medical UniversityNational Clinical Research Center for Geriatric DiseasesBeijing 100053China MOE Frontier Science Center for Brain Science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhou 310058China CAS Center for Excellence in Brain Science and Intelligence Technology Shanghai 200031China

Amyloid-b,tau pathology,and biomarkers of neurodegeneration make up the core diagnostic biomarkers of Alzheimer disease(AD).However,these proteins represent only a fraction of the complex biological processes underlying AD,and individuals with other brain diseases in which AD pathology is a comorbidity also test positive for these diagnostic *** ADspecific early diagnostic and disease staging biomarkers are *** this study,we performed tandem mass tag proteomic analysis of paired cerebrospinal fluid(CSF)and serum samples in a discovery cohort comprising 98 *** biomarkers were validated by parallel reaction monitoring–based targeted proteomic assays in an independent multicenter cohort comprising 288 *** quantified 3,238 CSF and 1,702 serum proteins in the discovery cohort,identifying 171 and 860 CSF proteins and 37 and 323 serum proteins as potential early diagnostic and staging biomarkers,*** the validation cohort,58 and 21 CSF proteins,as well as 12 and 18 serum proteins,were verified as early diagnostic and staging biomarkers,*** 19-protein CSF and an 8-protein serum biomarker panels were built by machine learning to accurately classify mild cognitive impairment(MCI)due to AD from normal cognition with areas under the curve of 0.984 and 0.881,*** 19-protein CSF biomarker panel also effectively discriminated patients with MCI due to AD from patients with other neurodegenerative ***,we identified 21 CSF and 18 serum stage-associated proteins re-flecting AD *** findings provide a foundation for developing bloodbased tests for AD screening and staging in clinical practice.

关键词： cerebrospinal Alzheimer fluid

Copper Metabolism and Cuproptosis:Molecular Mechanisms and Therapeutic Perspectives in neurodegenerative diseases

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Current Medical Science 2024年第1期44卷 28-50页

作者： Xiao-xia BAN Hao WAN Xin-xing WAN Ya-ting TAN Xi-min HU Hong-xia BAN Xin-yu CHEN Kun HUANG Qi ZHANG Kun XIONG department of Human Anatomy and neurobiology School of Basic Medical ScienceCentral South UniversityChangsha 430013China department of Endocrinology Third Xiangya HospitalCentral South UniversityChangsha 430013China department of Dermatology Xiangya HospitalCentral South UniversityChangsha 430013China Affiliated Hospital Inner Mongolia Medical UniversityHohhot 010050China key laboratory of Emergency and Trauma of Ministry of Education Hainan Medical UniversityHaikou 571199China Hunan key laboratory of Ophthalmology Changsha 430013China

Copper is an essential trace element,and plays a vital role in numerous physiological processes within the human *** normal metabolism,the human body maintains copper *** deficiency or excess can adversely affect cellular ***,copper homeostasis is stringently *** studies suggest that copper can trigger a specific form of cell death,namely,cuproptosis,which is triggered by excessive levels of intracellular *** induces the aggregation of mitochondrial lipoylated proteins,and the loss of iron-sulfur cluster *** neurodegenerative diseases,the pathogenesis and progression of neurological disorders are linked to copper *** review summarizes the advances in copper homeostasis and cuproptosis in the nervous system and neurodegenerative *** offers research perspectives that provide new insights into the targeted treatment of neurodegenerative diseases based on cuproptosis.

关键词： cuproptosis copper metabolism copper homeostasis neurodegeneration neurodegenerativedisease

Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington’s Disease

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Neuroscience Bulletin 2020年第7期36卷 811-814页

作者： Hong-Rong Cheng Xiao-Yan Li Hui-Li Yu Miao Xu Yan-Bin Zhang Shi-Rui Gan Hong-Lei Li Zhi-Ying Wu department of Neurology and Research Center of Neurology in the Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou 310009China department of Neurology and Institute of Neurology Huashan HospitalShanghai Medical CollegeFudan UniversityShanghai 200040China department of Neurology First Affiliated HospitalFujian Medical UniversityFuzhou 350005China Joint Institute for Genetics and Genome Medicine between Zhejiang University and the University of Toronto Zhejiang UniversityHangzhou 310058China

Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral *** is caused by unstable expanded CAG t... 详细信息

关键词： Huntington unstable CAG

Recommendations for the diagnosis and treatment of paroxysmal kinesigemc dyskinesia: an expert consensus in China

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Translational Neurodegeneration 2021年第1期10卷 67-76页

作者： Li Cao Xiaojun Huang Ning Wang Zhiying Wu Cheng Zhang Weihong Gu Shuyan Cong Jianhua Ma Ling Wei Yanchun Deng Qi Fang Qi Niu Jin Wang Zhaoxia Wang You Yin Jinyong Tian Shufen Tian Hongyan Bi Hong Jiang Xiaorong Liu Yang Lu Meizhen Sun Jianjun Wu Erhe Xu Tao Chen Tao Chen Xu Chen Wei Li Shujian Li Qinghua Li Xiaonan Song Ying Tang Ping Yang Yun Yang Min Zhang Xiong Zhang Yuhu Zhang Ruxu Zhang Yi Ouyang Jintai Yu Quanzhong Hu Qing Ke Yuanrong Yao Zhe Zhao Xiuhe Zhao Guohua Zhao Furu Liang Nan Cheng Jianhong Han Rong Peng Shengdi Chen Beisha Tang department of Neurology Ruijin Hospital Shanghai Jiao Tong University School of MedicineShanghaiChina department of Neurology The Sixth People's Hospital Shanghai Jiaotong UniversityShanghaiChina department of Neurology and Institute of Neurology The First Affiliated HospitalFujian Medical University/Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouChina department of Neurology and Research Center of Neurology The Second Affiliated Hospital/Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouChina department of Neurology The First Affiliated HospitalSun Yat-sen UniversityGuangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases/National Key Clinical Department and Key Discipline of NeurologyGuangzhouChina department of Neurology China-Japan Friendship HospitalMovement Disorder and Neurogenetics Research CenterBeijingChina department of Neurology Shengjing Hospital of China Medical UniversityShenyangChina department of Neurology The First Affiliated Hospital of Xinjiang Medical UniversityUrumqiChina department of Neurology The First Affiliated Hospital of Anhui Medical UniversityCollaborative Innovation Center for Neuropsychiatric Disorders and Mental HealthAnhui Medical University/Anhui Province Key Laboratory of Cognition and Neuropsychiatry DisordersHefeiChina department of Neurology Xijing HospitalFourth Military Medical UniversityXi'anChina department of Neurology The First Affiliated Hospital of Soochow UniversitySuzhouChina department of Neurology The First Affiliated Hospital of Nanjing Medical UniversityNanjingChina department of Neurology The First Affiliated Hospital of Guangxi Medical UniversityNanningChina department of Neurology Peking University First HospitalBeijingChina department of Neurology Changzheng Hospitalthe PLA Naval Medical UniversityShanghaiChina department of Neurology and department of Emergency Guizhou Provincial People's Hospital

Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different *** kinesigenic dyskinesia(PKD)is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the ***,PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary *** major cause of primary PKD is genetic abnormalities,and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete *** proline-rich transmembrane protein 2(PRRT2)was the first identified causative gene of PKD,accounting for the majority of PKD cases *** increasing number of studies has revealed the clinical and genetic characteristics,as well as the underlying mechanisms of *** seeking the views of domestic experts,we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for *** this consensus,we review the clinical manifestations,etiology,clinical diagnostic criteria and therapeutic recommendations for PKD,and results of genetic analyses in PKD patients performed in domestic hospitals.

关键词： Paroxysmal kinesigenic dyskinesia Diagnosis and treatment Expert consensus China

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation

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Chinese Medical Journal 2023年第17期136卷 2110-2112页

作者： Haoling Cheng Dianfu Chen Zhiying Wu Ning Wang department of Neurology First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouZhejiang 310000China Fujian key laboratory of Molecular Neurology Fujian Medical UniversityFuzhouFujian 350005China

To the Editor:Cockayne syndrome(CS;Mendelian Inheritance in Man#133540,216400)is a rare autosomal recessive neurodegenerative disorder described by Edward Cockayne in 1936.[1]The prevalence of CS is 2.7 per million live births,[2]and the disease is probably *** major clinical features are progressive growth failure and microcephaly as well as other characteristics such as a“cachectic dwarfism”appearance with sunken eyes,cutaneous photosensitivity,mental retardation,demyelinating peripheral neuropathy,pigmentary retinopathy,cataracts,deafness,dental anomalies,and premature death.[1,3]There is considerable variation in the severity of the disorder,leading to classification into three main types.

关键词： dwarf analysis retardation

Cholesterol Potentiates β-Amyloid Genesis in Cultured Human Umbilical Vein Endothelial Cells

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Advances in Alzheimer's Disease 2016年第2期5卷 23-34页

作者： Guozhi Huang Zhiqin Xue Xia Hu Lily Wan Jianming Li Yan Cai Peter R. Patrylo Xuegang Luo Aihua Pan Xiao-Xin Yan department of Anatomy and neurobiology Central South University Xiangya Medical School Changsha China department of Anatomy & Embryology Loudi Vocational and Technical College Loudi China department of Anatomy Xinjiang Medical University Urumqi China Neuroscience Research Center Changsha Medical University Changsha China departments of Physiology Anatomy and the Center for Integrated Research in Cognitive and Neural Sciences Southern Illinois University Carbondale Carbondale USA key laboratory of Hunan province in neurodegenerative Disorders Changsha China

Cerebral Amyloid Angiopathy (CAA) occurs commonly among the elderly and almost invariably in patients with Alzheimer’s Disease (AD). The β-amyloid peptides (Aβ) are produced via the amy-loidogenic processing of β-Amyloid Precursor Protein (APP) by β-secretase-1 (BACE1) and γ- secretase. Vascular endothelial cells are lately shown to possess the molecular machinery of Aβ production, which might participate in the development of CAA. Hypercholesterolemia is considered a risk factor for AD, whereas less is known if cholesterol may modulate endothelial Aβ production. In the present study we verified the amyloidogenic capability of Human Umbilical Vein Endothelial Cells (HUVECs) in vitro and explored the effect of cholesterol exposure on their amy-loidogenic potential. Cholesterol treatments at 12.5 and 25 mg/dL significantly elevated APP, BACE1 and APP β-CTF protein levels and β-site APP cleavage activity in cell lysates, and Aβ40 levels in culture medium. However, coincubation with cholesterol at 50 and 100 mg/dL attenuated the viability of the cultured cells and diminished their amyloidogenic capability. These findings suggest that high cholesterol exposure is stressful to vascular endothelial cells, and at a certain dosage range can promote an amyloidogenic response in these cells.

关键词： Aging Alzheimer’s Disease Cholesterol Neurodegeneration Vascular Dementia

Astrocytes in human central nervous system diseases: a frontier for new therapies

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Signal Transduction and Targeted Therapy 2023年第11期8卷 5233-5269页

作者： Alexei Verkhratsky Arthur Butt Baoman Li Peter Illes Robert Zorec Alexey Semyanov Yong Tang Michael V.Sofroniew International Joint Research Centre on Purinergic Signalling/School of Health and Rehabilitation Chengdu University of Traditional Chinese MedicineChengduChina department of Forensic Analytical Toxicology School of Forensic MedicineChina Medical UniversityShenyangChina Faculty of Biology Medicine and HealthThe University of ManchesterManchesterUK Achucarro Centre for Neuroscience IKERBASQUEBasque Foundation for ScienceBilbaoSpain department of Stem Cell Biology State Research Institute Centre for Innovative MedicineLT-01102VilniusLithuania Institute of Biomedical and Biomolecular Sciences School of Pharmacy and Biomedical SciencesUniversity of PortsmouthPortsmouthUK Rudolf Boehm Institute for Pharmacology and Toxicology University of Leipzig04109LeipzigGermany Celica Biomedical Lab Cell EngineeringTechnology Park1000LjubljanaSlovenia laboratory of Neuroendocrinology—Molecular Cell Physiology Institute of PathophysiologyUniversity of LjubljanaFaculty of MedicineLjubljanaSlovenia department of Physiology Jiaxing University College of Medicine314033JiaxingChina key laboratory of Acupuncture for Senile Disease(Chengdu University of TCM) Ministry of Education/Acupuncture and Chronobiology Key Laboratory of Sichuan ProvinceChengduChina department of neurobiology David Geffen School of MedicineUniversity of CaliforniaLos AngelesCAUSA

Astroglia are a broad class of neural parenchymal cells primarily dedicated to homoeostasis and defence of the central nervous system(CNS).Astroglia contribute to the pathophysiology of all neurological and neuropsychiatric disorders in ways that can be either beneficial or detrimental to disorder *** changes in astroglia can be primary or secondary and can result in gain or loss of *** respond to external,non-cell autonomous signals associated with any form of CNS pathology by undergoing complex and variable changes in their structure,molecular expression,and *** addition,internally driven,cell autonomous changes of astroglial innate properties can lead to CNS *** pathophysiology is complex,with different pathophysiological cell states and cell phenotypes that are context-specific and vary with disorder,disorder-stage,comorbidities,age,and ***,we classify astroglial pathophysiology into(i)reactive astrogliosis,(ii)astroglial atrophy with loss of function,(iii)astroglial degeneration and death,and(iv)astrocytopathies characterised by aberrant forms that drive *** review astroglial pathophysiology across the spectrum of human CNS diseases and disorders,including neurotrauma,stroke,neuroinfection,autoimmune attack and epilepsy,as well as neurodevelopmental,neurodegenerative,metabolic and neuropsychiatric *** cellular and molecular mechanisms of astroglial pathophysiology represents a new frontier to identify novel therapeutic strategies.

关键词： diseases epilepsy degeneration

Biomolecular condensates and disease pathogenesis

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Science China(Life Sciences) 2024年第9期67卷 1792-1832页

作者： Ke Ruan Ge Bai Yanshan Fang Dan Li Tingting Li Xingguo Liu Boxun Lu Qing Lu Zhou Songyang Shuguo Sun Zheng Wang Xin Zhang Wen Zhou Hong Zhang The First Affiliated Hospital&School of Life Sciences Ministry of Education Key Laboratory for Membrane-less Organelles&Cellular DynamicsHefei National Research Center for Interdisciplinary Sciences at the MicroscaleCenter for Advanced Interdisciplinary Science and Biomedicine of IHMDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230027China Nanhu Brain-computer Interface Institute Hangzhou 311100China department of Neurology of Second Affiliated Hospital and School of Brain Science and Brain Medicine Zhejiang University School of MedicineHangzhou 310058China Interdisciplinary Research Center on Biology and Chemistry Shanghai Institute of Organic ChemistryChinese Academy of SciencesShanghai 201210China University of Chinese Academy of Sciences Beijing 100049China Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders(Ministry of Education)Shanghai Jiao Tong UniversityShanghai 200030China department of Biomedical Informatics School of Basic Medical SciencesPeking University Health Science CenterBeijing 100191China CAS key laboratory of Regenerative Biology Joint School of Life SciencesGuangzhou Institutes of Biomedicine and HealthChinese Academy of SciencesGuangzhou 510530China Joint School of Life Sciences Guangzhou Medical UniversityGuangzhou 510000China Neurology department at Huashan Hospital State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain ScienceInstitutes of Brain ScienceSchool of Life SciencesFudan UniversityShanghai 200433 China key laboratory for the Genetics of Developmental and Neuropsychiatric Disorders Ministry of EducationBio-X InstitutesShanghai Jiao Tong UniversityShanghai 200030China State key laboratory of Biocontrol MOE Key Laboratory of Gene Function and Regulation and Guangzhou Key Laboratory of Healthy Aging ResearchSchool of Life SciencesSun Yat-sen Memorial HospitalSun Yat-sen UniversityGuangzhou 510275China department of Human Anatomy Hist

Biomolecular condensates or membraneless organelles(MLOs)formed by liquid-liquid phase separation(LLPS)divide intracellular spaces into discrete compartments for specific *** of LLPS or aberrant phase transition that disturbs the formation or material states of MLOs is closely correlated with neurodegeneration,tumorigenesis,and many other pathological ***,we summarize the recent progress in development of methods to monitor phase separation and we discuss the biogenesis and function of MLOs formed through phase *** then present emerging proof-of-concept examples regarding the disruption of phase separation homeostasis in a diverse array of clinical conditions including neurodegenerative disorders,hearing loss,cancers,and immunological ***,we describe the emerging discovery of chemical modulators of phase separation.

关键词： liquid-liquid phase separation biomolecular condensate membraneless organelle