ATAXIA

作品数：72被引量：94H指数：5
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Toward understanding the role of genomic repeat elements in neurodegenerative diseases
《Neural Regeneration Research》2025年第3期646-659,共14页Zhengyu An Aidi Jiang Jingqi Chen 
supported by the National Natural Science Foundation of China, No.61932008;Natural Science Foundation of Shanghai, No.21ZR1403200 (both to JC)。
Neurodegenerative diseases cause great medical and economic burdens for both patients and society;however, the complex molecular mechanisms thereof are not yet well understood. With the development of high-coverage se...
关键词：Alzheimer's disease ATAXIA deep learning long-read sequencing NEURODEGENERATION neurodegenerative diseases Parkinson's disease repeat element structural variant 
Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia
《Genes & Diseases》2024年第6期60-64,共5页Ilaria Della Valle Martina Milani Simona Rossi Riccardo Turchi Flavia Tortolici Valentina Nesci Alberto Ferri Cristiana Valle Daniele Lettieri-Bar-bato Katia Aquilano Mauro Cozzolino Savina Apolloni Nadia D'Ambrosi 
funded by the National Ataxia Foundation (NAF)and Friedreich's Ataxia Research Alliance (FARA) (n°821396[RG])to Nadia D'Ambrosi;by Next Generation EU PRIN PNRR 2022 (N°P2022JKTWH)to Nadia D'Ambrosi and Mauro Cozzolino,by FARA Research Grant 2019 to Katia Aquilano;by FARA Research Grant 2021 to Daniele Lettieri-Barbato.
Friedreich's ataxia(FRDA)is a rare genetic disorder characterized by motor discoordination and cerebellar involvement due to mutations in the frataxin(FXN)gene,which encodes a mitochondrial protein involved in ironsul...
关键词：INVOLVEMENT DEGENERATION Friedreich 
Application of bedside HINTS,ABCD2 score and truncal ataxia to differentiate cerebellar-brainstem stroke from vestibular neuritis in the emergency room
《Stroke & Vascular Neurology》2024年第6期685-692,共8页Xinmin Liu Zhaoxia Li Yi Ju Xingquan Zhao 
Beijing Municipal Committee of Science and Technology(Z201100005620010);Chinese Academy of Medical Sciences clinical and translational medicine(2022-I2M C&T-B 116);Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences(2019-I2M 5-029);Ministry of Finance of the People’s Republic of China(issued by Finance and Social Security(2015)Document No.82;(2016)Document No.50;(2017)Document No.72;(2018)Document No.48;(2019)Document No.77;(2020)Document No.75;(2021)Document No.84,Ministry of Finance and the National Key R&D Program of China(2022ZD0118005).
Background and purpose Acute vestibular syndrome(AVS)typically manifests as isolated dizziness or vertigo with no apparent neurological impairments.However,distinguishing life-threatening stroke from innocuous periphe...
关键词：ABCD2 VESTIBULAR SPECIFICITY 
A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex
《Neuroscience Bulletin》2024年第10期1489-1501,共13页Han-Kui Liu Hong-Lin Hao Hui You Feng Feng Xiu-Hong Qi Xiao-Yan Huang Bo Hou Chang-Geng Tian Han Wang Huan-Ming Yang Jian Wang Rui Wu Hui Fang Jiang-Ning Zhou Jian-Guo Zhang Zhen-Xin Zhang 
supported by the NIH-NIA Research Project (R21AG036454);the National Key R&D Program of China (2016YFC0901500);CAMS Innovation Fund for Medical Sciences (2016-12M-1-004);the National Key R&D Program of China (2016YFC1305900);the National Natural Science Foundation of China (3203004);the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB02030001);Shenzhen Municipal of Government of China (JCYJ20170412153248372 and JCYJ20180507183615145).
This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease phenotypes,which has not been depicted by the known neurodegenerative disease....
关键词：PARKINSONISM Spinocerebellar ataxia CARS gene 
Autoantibodies related to ataxia and other central nervous system manifestations of gluten enteropathy
《World Journal of Clinical Cases》2024年第12期2031-2039,共9页Tsvetelina Velikova Georgi Vasilev Russka Shumnalieva Lyubomir Chervenkov Dimitrina Georgieva Miteva Milena Gulinac Stamatios Priftis Snezhina Lazova 
Supported by The European Union-NextGenerationEU,Through The National Recov-ery and Resilience Plan of the Republic of Bulgaria,No.BG-RRP-2.004-0008。
Gluten ataxia and other central nervous system disorders could be linked to gluten enteropathy and related autoantibodies.In this narrative review,we focus on the various neuro-logical manifestations in patients with ...
关键词：Gluten ataxia Celiac disease Gluten enteropathy AUTOANTIBODIES Anti-gliadin antibodies Anti-bodies to tissue transglutaminase Anti-tissue transglutaminase antibodies Anti-transglutaminase 6 antibodies Anti-glycine receptor antibodies Anti-glutamine acid decarboxylase antibodies 
Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations:A case report
《World Journal of Clinical Cases》2023年第15期3533-3541,共9页Xue-Qiang Wang Chuan-Bi Chen Wen-Jie Zhao Guang-Bin Fu Yu Zhai 
BACKGROUND Adult neuronal ceroid lipofuscinosis(ANCL)can be caused by compound heterozygous recessive mutations in CLN6.The main clinical features of the disease are neurodegeneration,progressive motor dysfunction,sei...
关键词：CLN6 Neuronal ceroid lipofuscinosis Genetic testing EPILEPSY ATAXIA Case report 
Mitochondrial Calcium Homeostasis in the Pathology and Therapeutic Application in Friedreich's Ataxia被引量：1
《Neuroscience Bulletin》2023年第4期695-698,共4页Hongting Zhao Zhuoyuan Li Yutong Liu Meng Zhang Kuanyu Li 
supported by the National Natural Science Foundation of China(31871201 and 31371060).
Friedreich's ataxia(FRDA)is the most common neurodegenerative disease caused by an autosomal recessive singlegene mutation,affecting 2-4 per 100,000 Caucasians[1].The causative gene is frataxin(FXN),located on chromos...
关键词：Friedreich THERAPEUTIC STASIS 
Cerebellar pathology in motor neuron disease:neuroplasticity and neurodegeneration被引量：2
《Neural Regeneration Research》2022年第11期2335-2341,共7页Rangariroyashe H.Chipika Grainne Mulkerrin Pierre-François Pradat Aizuri Murad Fabrice Ango Cédric Raoul Peter Bede 
the Spastic Paraplegia Foundation(SPF);Professor Peter Bede and the Computational Neuroimaging Group are also the Health Research Board(HRB EIA-2017-019);the Irish Institute of Clinical Neuroscience(IICN);the EU Joint Programme-Neurodegenerative Disease Research(JPND);the Andrew Lydon scholarship;the Iris O'Brien Foundation。
Amyotrophic lateral sclerosis is a relentlessly progressive multi-system condition.The clinical picture is dominated by upper and lower motor neuron degeneration,but extra-motor pathology is increasingly recognized,in...
关键词：amyotrophic lateral sclerosis ATAXIA CEREBELLUM magnetic resonance imaging motor neuron disease NEUROIMAGING NEUROPLASTICITY PATHOLOGY primary lateral sclerosis pseudobulbar affect 
Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation:A case report
《World Journal of Clinical Cases》2022年第29期10681-10688,共8页Yue-Yue Chang Chuan-Qing Yu Lei Zhu 
Supported by the Key project of Education Department of Anhui Province,No. KJ2019A0096;Huainan science and technology planning project,No. 2016A26(3);Project Research Fund of Anhui University of Science and Technology,No. fsyyyb2020-03。
BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of chol...
关键词：Cerebrotendinous xanthomatosis CYP27A1 gene ATAXIA Juvenile cataracts Tendon xanthoma Lipid metabolism Case report 
Loss of Wtap results in cerebellar ataxia and degeneration of Purkinje cells被引量：3
《Journal of Genetics and Genomics》2022年第9期847-858,共12页Yeming Yang Guo Huang Xiaoyan Jiang Xiao Li Kuanxiang Sun Yi Shi Zhenglin Yang Xianjun Zhu 
supported by the National Natural Science Foundation of China(82121003,81970841,and 81790643);the Department of Science and Technology of Sichuan Province(2021YFS0386,2021YFS0369,20ZYD038,20ZYD037,2020JDZH0026,2021JDZH0022);the CAMS Innovation Fund for Medical Sciences(2019-12M-5-032);Huanhua Distingished Scholar grant;the Department of Chengdu Science and Technology(2021-YF05-01316-SN)。
N^(6)-methyladenosine(m^(6)A)modification,which is achieved by the METTL3/METTL14/WTAP methyltransferase complex,is the most abundant internal mRNA modification.Although recent evidence indicates that m^(6)A can regul...
关键词：N^(6)-methyladenosine Wtap METTL3 METTL14 Purkinje cell ATAXIA CEREBELLUM 
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