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paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family:coexistence of a PRRT2 mutation and two CLCN1 mutations

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Neuroscience Bulletin 2014年第6期30卷 1010-1016页

作者： Hong-Fu Li Wan-Jin Chen Wang Ni Zhi-Ying Wu Department of Neurology and Institute of Neurology Second Affiliated HospitalSchool of MedicineZhejiang University Department of Neurology and Institute of Neurology Huashan HospitalShanghai Medical CollegeFudan University Department of Neurology and Institute of Neurology First Affiliated HospitalFujian Medical University

paroxysmal kinesigenic dyskinesia（PKD） and myotonia congenita（MC） are independent disorders that share some clinical features. We aimed to investigate the sequences of PRRT2 and CLCN1 in a proband diagnosed with PKD and suspected MC. Clinical evaluation and auxiliary examinations were performed. Direct sequencing of the entire coding regions of the PRRT2 and CLCN1 genes was conducted. Haplotype analysis confirmed the relationships among the family members. The proband suffered choreoathetosis attacks triggered by sudden movements, and lower-limb weakness a n d s t i ff n e s s t h a t w o r s e n e d i n c o l d w e a t h e r. Carbamazepine monotherapy completely controlled his choreoathetosis and significantly relieved his limb weakness and stiffness. His father, when young, had similar limb stiffness, while his mother and brother were asymptomatic. Genetic analysis revealed that the proband and his father harbored a PRRT2 c.649 dup C mutation, and CLCN1 c.1723C〉T and c.2492A〉G mutations. His brother carried only the two CLCN1 mutations. None of these mutations were identified in his mother and 150 unrelated controls. This is the first report showing the coexistence ofPRRT2 and CLCN1 mutations. Our results also indicate that both the PRRT2 and CLCN1 genes need to be screened if we fail to identify PRRT2 mutations in PKD patients or CLCN1 mutations in MC patients.

关键词： paroxysmal kinesigenic dyskinesia myotonia congenita PRRT2 CLCN1

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paroxysmal kinesigenic dyskinesia:Genetics and Pathophysiological Mechanisms

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Neuroscience Bulletin 2024年第7期40卷 952-962页

作者： Jiao-Jiao Xu Hong-Fu Li Zhi-Ying Wu Department of Medical Genetics and Center for Rare Diseases The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China Department of Neurology in the Second Affiliated Hospital Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou 310009China

paroxysmal kinesigenic dyskinesia(PKD),the most common type of paroxysmal movement disorder,is characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary *** is mainly caused by mutations in the PRRT2 or TMEM151A *** exact pathophysiological mechanisms of PKD remain unclear,although the function of PRRT2 protein has been well characterized in the last *** on abnormal ion channels and disturbed synaptic transmission in the absence of PRRT2,PKD may be channelopathy or synaptopathy,or *** addition,the cerebellum is regarded as the key pathogenic *** depolarization in the cerebellum is tightly associated with dyskinetic ***,in PKD,other than the cerebellum,the role of the cerebrum including the cortex and thalamus needs to be further investigated.

关键词： paroxysmal kinesigenic dyskinesia PRRT2 TMEM151A Genetics Pathophysiological mechanisms

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paroxysmal kinesigenic dyskinesia presenting with transient involuntary twitching movements involving right leg in a 24-year-old man responding well to topiramate

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医学争鸣 2017年第1期8卷 62-64页

作者： YU Yong-Peng SUN Ren-Tao REN Wei-Feng TAN Lan Department of Neurology Weihai Center HospitalSchool of MedicineQingdao UniversityWeihai 264400China Jimo Hospital of Traditional Chinese Medicine Qingdao 266200China Department of Hematology Pingdu People's HospitalPingdu 266700China Department of Neurology Qingdao Municipal HospitalCollege of MedicineQingdao UniversityQingdao 266071China

paroxysmal kinesigenic dyskinesia(PKD)is presented as a short paroxysmal attack of focal or generalized involuntary *** most common treatments for PKD are carbamazepine and *** the cases of clinically diagnosed PKD with a good response to topiramate have been already reported,this patient was unique in several ***,we reported the case of a 24-year-old patient with PKD for one year,and described the pathogenesis of PKD.

关键词： paroxysmal kinesigenic dyskinesia topiramate carbamazepine

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Both gain-and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

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Journal of Genetics and Genomics 2024年第8期51卷 801-810页

作者： Wan-Bing Sun Jing-Xin Fu Yu-Lan Chen Hong-Fu Li Zhi-Ying Wu Dian-Fu Chen Department of Medical Genetics and Center for Rare Diseases and Department of Neurologyand Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation in Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Nanhu Brain-computer Interface Institute HangzhouZhejiang 314050China MOE Frontier Science Center for Brain Science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouZhejiang 310012China

KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channelα*** variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia(PKD),but the correlation between them remains unclear due to the phenotypic complexity of KCNA1 variants as well as the rarity of PKD *** the whole exome sequencing followed by Sanger sequencing,we screen for potential pathogenic KCNA1 variants in patients clinically diagnosed with paroxysmal movement disorders and identify three previously unreported missense variants of KCNA1 in three unrelated Chinese *** proband of one family(c.496G>A,p.A166T)manifests as episodic ataxia type 1,and the other two(c.877G>A,p.V293I and c.1112C>A,p.T371A)manifest as *** pathogenicity of these variants is confirmed by functional studies,suggesting that p.A166T and p.T371A cause a loss-of-function of the channel,while p.V293I leads to a gain-of-function with the property of voltage-dependent gating and activation kinetic *** reviewing the locations of PKD-manifested KCNA1 variants in Kv1.1 protein,we find that these variants tend to cluster around the pore domain,which is similar to ***,our study strengthens the correlation between KCNA1 variants and PKD and provides more information on genotype–phenotype correlations of KCNA1 channelopathy.

关键词： paroxysmal kinesigenic dyskinesia KCNA1 Loss-of-function Gain-of-function Channelopathy Episodicataxiatype1

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Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

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Frontiers of Medicine 2021年第6期15卷 877-886页

作者： Yulan Chen Dianfu Chen Shaoyun Zhao Gonglu Liu Hongfu Li Zhi-Ying Wu Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou310009China Department of Neurology Huashan HospitalShanghai Medical CollegeFudan UniversityShanghai200040China

Proline-rich transmembrane protein 2(PRRT2)is the leading cause of paroxysmal kinesigenic dyskinesia(PKD),benign familial infantile epilepsy(BFIE),and infantile convulsions with choreoathetosis(ICCA).Reduced penetrance of PRRT2 has been observed in previous studies,whereas the exact penetrance has not been evaluated *** objective of this study was to estimate the penetrance of PRRT2 and determine its influencing *** screened 222 PKD index patients and their available relatives,identified 39 families with pathogenic or likely pathogenic(P/LP)PRRT2 variants via Sanger sequencing,and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the *** was estimated as the proportion of affected variant ***2 penetrance estimate was 77.6%(95%confidence interval(CI)74.5%–80.7%)in relatives and 74.5%(95%CI 70.2%–78.8%)in obligate *** addition,we first observed that penetrance was higher in truncated than in non-truncated variants(75.8%versus 50.0%,P=0.01),higher in Asian than in Caucasian carriers(81.5%versus 68.5%,P=0.004),and exhibited no difference in gender or parental *** results are meaningful for genetic counseling,implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders,with patients from Asia or carrying truncated variants at a higher risk.

关键词： penetrance PRRT2 paroxysmal kinesigenic dyskinesia infantile convulsions

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PRRT2 Mutation and Serum Cytokines in paroxysmal kinesigenic dyskinesia

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Current Medical Science 2022年第2期42卷 280-285页

作者： Ke XU Shan-shan HUANG Dao-yuan YUE Guo LI Sui-qiang ZHU Xiao-yan LIU Department of Neurology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of Laboratory Medicine Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

Objective paroxysmal kinesigenic dyskinesia(PKD)is a rare movement disorder PRRT2 gene mutations have been reported to cause ***,the pathophysiological mechanism of PKD remains unclear,and it is unknown whether an inflammatory response is involved in the occurrence of this *** aimed to investigate the symptomatology,genotype,and serum cytokines of patients with *** We recruited 21 patients with PKD,including 7 with familial PKD and 14 with sporadic *** clinical features were investigated,and blood samples were collected,and PRRT2 mutations and cytokine levels were *** The mean age at PKD onset was 12.3±2.2 years *** was the most common manifestation of dyskinesia,and the limbs were the most commonly affected *** attacks were induced by identifiable kinesigenic triggers,and the attack durations were brief(A)were previously *** tumor necrosis factor(TNF)-αlevel in the PKD group was significantly higher than that in the age-and sex-matched control group(P=0.025).There were no significant differences in the interleukin(IL)-1β,IL-2R,IL-6,IL-8,or IL-10 levels between the two *** In this study,we summarized the clinical and genetic characteristics of *** found that the serum TNF-αlevels were elevated in patients clinically diagnosed with PKD,suggesting that an inflammatory response is involved in the pathogenesis of PKD.

关键词： paroxysmal kinesigenic dyskinesia proline-rich transmembrane protein 2 cytokines

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Mutation Analysis of MR-1, SLC2A 1, and CLCN1 in 28 PRRT2-negative paroxysmal kinesigenic dyskinesia Patients

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Chinese Medical Journal 2016年第9期129卷 1017-1021页

作者： Hong-Xia Wang Hong-Fu Li Gong-Lu Liu Xiao-Dan Wen Zhi-Ying Wu Department of Neurology and Institute of Neurology Huashan Hospital Shanghai Medical College Fudan University Shanghai 200040 China Department of Neurology and Research Center of Neurology in Second Affiliated Hospital The Collaborative Innovation center for Brain Science Zhejiang University School of Medicine Hangzhou Zhejiang 310009 China

Background： paroxysmal kinesigenic dyskinesia （PKD） is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations. However, over two-third of sporadic PKD patients did not carry anyPRRT2 mutation, suggesting an existence of additional genetic mutations or possible misdiagnosis due to clinical overlap. Methods： A cohort of 28 Chinese patients clinically diagnosed with sporadic PKD and excluded PRRT2 mutations were recruited, Clinical features were evaluated, and all subjects were screened for MR-l, SLC2A1, and CLCN1 genes, which are the causative genes of paroxysmal nonkinesigenic dyskinesia （PNKD）, paroxysmal exertion-induced dyskinesia, and myotonia congenita （MC）, respectively, In addition, 200 genetically matched healthy individuals were recruited as controls. Results： A total of 16 genetic variants including 4 in MR-1 gene, 8 in SLC2A1 gene, and 4 in CLCN1 gene were detected. Among them, SLC2A1 c.363G〉A mutation was detected in one case, and CLCN1 c. 1205C〉T mutation was detected in other two cases. Neither of them was found in 200 controls as well as 1000 Genomes database and ExAC database. Both mutations were predicted to be pathogenic by SIFT and PolyPhen2. The SLC2A 1 c.363G〉A mutation was novel. Conclusions： The phenotypic overlap may lead to the difficulty in distinguishing PKD from PNKD and MC. For those PRRT2-negative PKD cases, screening of SLC2A1 and CLCN1 genes are useful in confirming the diagnosis.

关键词： CLCN I MR-l paroxysmal kinesigenic dyskinesia PRRT2 SLC2A1

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Somatosensory disinhibition in patients with paroxysmal kinesigenic dyskinesia

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Chinese Medical Journal 2012年第5期125卷 838-842页

作者： WEI Hua SUN Ying CHEN Hai WANG De-quan LI Li-ping DING Yan LIU Ai-hua LU Chang-feng WANG Yu-ping Department of Neurology Xuanwu Hospital Capital MedicalUniversity Beijing 100053 China Department of Neurology Tongren Hospital Capital MedicalUniversity Beijing 100730 China

Background paroxysmal kinesigenic dyskinesia （PKD） is characterized by recurrent brief episodes of chorea and dystonia induced by sudden movement. Whether the central nervous system is hyper- or hypoexcitable in PKD remains undetermined. The aim of our study was to compare the somatosensory evoked potential （SEP） recovery cycle, a marker of somatosensory system excitability, in PKD patients and controls.

关键词： paroxysmal kinesigenic dyskinesia somatosensory evoked potentials recovery cycle paired stimulation

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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

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Clinical Analysis of Nine Cases of paroxysmal Exercise-induced Dystonia

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2012年第6期32卷 937-940页

作者：彭国平王康袁园郑旭宁罗本燕 Department of Neurology First Affiliated Hospital College of Medicine Zhejiang University

This study was aimed to analyze the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and extend the understanding of this disease. From August, 2008 to October, 2010, 9 patients were diagnosed with PKD in the Department of Neurology of the First Affiliated Hospital of Zhejiang University, China. The data involving clinical demographic characteristics, somatosensory evoked potentials, results of electromyography, video electroencephalography (EEG), brain magnetic resonance imaging (MRI) and computerized tomography (CT) were collected. All PKD patients exhibited unilat-eral or bilateral recurrent episodic dyskinetic attacks triggered by sudden voluntary movements. The duration of the attacks ranged from several seconds to one minute. The attack frequency ranged from approximately once in several months to more than 10 times in a day. Patients suffered from no conscious disorders during the attack, and no neurological signs were found during the period between attacks. No abnormal somatosensory evoked potentials were found. Routine EEG, video EEG monitoring or brain imaging showed normal findings. Classical treatment for anti-epilepsy, including car-bamazepine and topiramate, was administered to the patients and proved to be effective. It was concluded that PKD is characteristically triggered by sudden voluntary movement; no abnormal elec-troneurophysiological findings are observed in PKD, and antiepileptic drugs are effective in treating the disorder.

关键词： paroxysmal kinesigenic dyskinesia clinical features therapy research progress

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