Pub Date : 2017-07-25DOI: 10.3969/cjcnn.v17i7.1634
Xiao-ling Yan, Xue-bin Zhang
Pituitary adenoma, a common intracranial neuroendocrine tumor is usually a benign tumor, some of which are of invasiveness and high recurrence, making it a problem to be solved in neurosurgery. The clinical prognosis of pituitary adenoma is mainly determined by biological factors and clinical factors. In terms of biological factors, with the application of molecular array technology and others molecular detection progress in etiology and pathology, a lot of prediction, diagnosis, treatment related predictive factors and genes are detected for further screening. As for the other factors, standardized prognosis and treatment procedure and application of new technology are obvious in improving the prognosis of pituitary adenomas. This article reviews the research progress of the factors of pituitary adenoma, and provides the reference for the diagnosis and treatment of pituitary adenoma. DOI: 10.3969/j.issn.1672-6731.2017.07.011
{"title":"Advances in research of invasion and recurrence of pituitary adenoma","authors":"Xiao-ling Yan, Xue-bin Zhang","doi":"10.3969/cjcnn.v17i7.1634","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i7.1634","url":null,"abstract":"Pituitary adenoma, a common intracranial neuroendocrine tumor is usually a benign tumor, some of which are of invasiveness and high recurrence, making it a problem to be solved in neurosurgery. The clinical prognosis of pituitary adenoma is mainly determined by biological factors and clinical factors. In terms of biological factors, with the application of molecular array technology and others molecular detection progress in etiology and pathology, a lot of prediction, diagnosis, treatment related predictive factors and genes are detected for further screening. As for the other factors, standardized prognosis and treatment procedure and application of new technology are obvious in improving the prognosis of pituitary adenomas. This article reviews the research progress of the factors of pituitary adenoma, and provides the reference for the diagnosis and treatment of pituitary adenoma. DOI: 10.3969/j.issn.1672-6731.2017.07.011","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"541-545"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43373133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/cjcnn.v17i7.1624
B. Tang, Sheng Zeng, Kai Li
Clinical standards and interpretation of gene sequence variants in human Mendelian disorders TANG Bei⁃sha1, 2, ZENG Sheng1, LI Kai1 Department of Neurology, Xiangya Hospital, State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu'nan, China Corresponding author: TANG Bei⁃sha (Email: bstang7398@163.com) This study was supported by Key Project of the National Natural Science Foundation of China (No. 81130021). ·专论·
{"title":"Clinical standards and interpretation of gene sequence variants in human Mendelian disorders","authors":"B. Tang, Sheng Zeng, Kai Li","doi":"10.3969/cjcnn.v17i7.1624","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i7.1624","url":null,"abstract":"Clinical standards and interpretation of gene sequence variants in human Mendelian disorders TANG Bei⁃sha1, 2, ZENG Sheng1, LI Kai1 Department of Neurology, Xiangya Hospital, State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu'nan, China Corresponding author: TANG Bei⁃sha (Email: bstang7398@163.com) This study was supported by Key Project of the National Natural Science Foundation of China (No. 81130021). ·专论·","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"471-476"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45427537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/CJCNN.V17I7.1631
Lan Zheng, Xiao-li Liu, Li Cao
Objective To report 4 cases of ataxia-telangiectasia (AT) with ATM genetic mutation and to summarize the clinical and genetic characteristics of AT by literatures review. Methods Clinical data of 4 patients from 3 AT families was collected in detail and genomic DNA of the patients and family members was extracted from peripheral blood. Whole exon sequencing (WES) and polymerase chain reaction (PCR) of Sanger sequencing was used to analyse ATM genic mutation. Results Four patients were characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, recurrent infection caused by immunodeficiency, α-fetoprotein (AFP) elevation and cerebellar atrophy shown in brain MRI were presented. Sequence analysis of ATM gene revealed two known compound heterozygous mutations c.8287C > T (p.Arg2763X) and c.9139C > T (p.Arg3047X) which were nonsense mutation in Case 1 and Case 2. In Case 3, there were two compound heterozygous mutations, including nonsence mutation c.8911C > T (p.Gln2971X) and deficit mutation c.7141_7151delAATGGAAAAAT (p.Asn2381GlufsX18) both of which were not reported previously. Case 4 carried homozygotic mutation c.1402_1403delAA (p. Lys468GlufsX18). Conclusions Four patients were diagnosed as AT with typical clinical manifestations. Patients with variant AT present mild nervous system symptom, normal head MRI and less involvement other than nervous systemt. Definite diagnosis should be dependant on ATM genetic testing. DOI: 10.3969/j.issn.1672-6731.2017.07.008
{"title":"Clinical phenotype and genetic characteristics of ataxia - telangiectasia: four cases report","authors":"Lan Zheng, Xiao-li Liu, Li Cao","doi":"10.3969/CJCNN.V17I7.1631","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1631","url":null,"abstract":"Objective To report 4 cases of ataxia-telangiectasia (AT) with ATM genetic mutation and to summarize the clinical and genetic characteristics of AT by literatures review. Methods Clinical data of 4 patients from 3 AT families was collected in detail and genomic DNA of the patients and family members was extracted from peripheral blood. Whole exon sequencing (WES) and polymerase chain reaction (PCR) of Sanger sequencing was used to analyse ATM genic mutation. Results Four patients were characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, recurrent infection caused by immunodeficiency, α-fetoprotein (AFP) elevation and cerebellar atrophy shown in brain MRI were presented. Sequence analysis of ATM gene revealed two known compound heterozygous mutations c.8287C > T (p.Arg2763X) and c.9139C > T (p.Arg3047X) which were nonsense mutation in Case 1 and Case 2. In Case 3, there were two compound heterozygous mutations, including nonsence mutation c.8911C > T (p.Gln2971X) and deficit mutation c.7141_7151delAATGGAAAAAT (p.Asn2381GlufsX18) both of which were not reported previously. Case 4 carried homozygotic mutation c.1402_1403delAA (p. Lys468GlufsX18). Conclusions Four patients were diagnosed as AT with typical clinical manifestations. Patients with variant AT present mild nervous system symptom, normal head MRI and less involvement other than nervous systemt. Definite diagnosis should be dependant on ATM genetic testing. DOI: 10.3969/j.issn.1672-6731.2017.07.008","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"519-525"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43401640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/CJCNN.V17I7.1625
Xunhua Li, Ding-bang Chen, Chao Wu
Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation sequencing (NGS), choosing proper sequencing methods is a new challenge. This paper aims to review different strategies and problems of genetic diagnosis for monogenic neurogenetic diseases based on clinical phenotypes, gene mutation characteristics and gene sequencing methodology. DOI: 10.3969/j.issn.1672-6731.2017.07.002
{"title":"Strategies and problems of genetic diagnosis for neurogenetic diseases","authors":"Xunhua Li, Ding-bang Chen, Chao Wu","doi":"10.3969/CJCNN.V17I7.1625","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1625","url":null,"abstract":"Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation sequencing (NGS), choosing proper sequencing methods is a new challenge. This paper aims to review different strategies and problems of genetic diagnosis for monogenic neurogenetic diseases based on clinical phenotypes, gene mutation characteristics and gene sequencing methodology. DOI: 10.3969/j.issn.1672-6731.2017.07.002","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"477-483"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48928909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/CJCNN.V17I7.1627
Xiao-jun Huang, Li Cao
Neurodegeneration with brain iron accumulation (NBIA) is a neurodegenerative disorder characterized by abnormal accumulation of iron in central nervous system. Common clinical symptoms in NBIA include different types of dyskinesia, pyramidal tract involvement, cerebellar ataxia, peripheral neuropathy, autonomic neuropathy, cognitive impairment and visual dysfunction. So far, 10 genes have been identified as the causative gene for NBIA subtypes, which are PANK2, COASY, PLA2G6, C19orf12, FA2H, WDR45, ATP13A2, FTL, CP and DCAF17. The pathogenesis of NBIA involves mitochondrial involvement, oxidative stress damage, lipid metabolism and autophagy. Furthermore, NBIA may share the same pathogenetic mechanism with some other neurodegenerative disorders, such as Parkinson's disease (PD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). DOI: 10.3969/j.issn.1672-6731.2017.07.004
{"title":"Genetic research advance on neurodegeneration with brain iron accumulation","authors":"Xiao-jun Huang, Li Cao","doi":"10.3969/CJCNN.V17I7.1627","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1627","url":null,"abstract":"Neurodegeneration with brain iron accumulation (NBIA) is a neurodegenerative disorder characterized by abnormal accumulation of iron in central nervous system. Common clinical symptoms in NBIA include different types of dyskinesia, pyramidal tract involvement, cerebellar ataxia, peripheral neuropathy, autonomic neuropathy, cognitive impairment and visual dysfunction. So far, 10 genes have been identified as the causative gene for NBIA subtypes, which are PANK2, COASY, PLA2G6, C19orf12, FA2H, WDR45, ATP13A2, FTL, CP and DCAF17. The pathogenesis of NBIA involves mitochondrial involvement, oxidative stress damage, lipid metabolism and autophagy. Furthermore, NBIA may share the same pathogenetic mechanism with some other neurodegenerative disorders, such as Parkinson's disease (PD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). DOI: 10.3969/j.issn.1672-6731.2017.07.004","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"490-499"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44598195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/CJCNN.V17I7.1626
You Chen, Zhidong Cen, W. Luo
Primary familial brain calcification (PFBC), characterized by bilateral, symmetric calcifications in basal ganglia and other brain regions and visualized in neuroimaging and neuropsychiatric manifestations variable in type and severity, is a neurodegenerative disorder with clinical and genetic heterogeneity. The discovery of causative genes (namely SLC20A2, PDGFRB, PDGFB and XPR1) and functional studies indicated that PFBC may be related to inorganic phosphate transport dysfunction and blood-brain barrier deficiency. Since the understanding of PFBC has advanced dramatically in recent years, this review focuses on diagnosis, molecular genetics, genotype-phenotype relationship and treatment in PFBC. DOI: 10.3969/j.issn.1672-6731.2017.07.003
{"title":"Recent study on primary familial brain calcification","authors":"You Chen, Zhidong Cen, W. Luo","doi":"10.3969/CJCNN.V17I7.1626","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1626","url":null,"abstract":"Primary familial brain calcification (PFBC), characterized by bilateral, symmetric calcifications in basal ganglia and other brain regions and visualized in neuroimaging and neuropsychiatric manifestations variable in type and severity, is a neurodegenerative disorder with clinical and genetic heterogeneity. The discovery of causative genes (namely SLC20A2, PDGFRB, PDGFB and XPR1) and functional studies indicated that PFBC may be related to inorganic phosphate transport dysfunction and blood-brain barrier deficiency. Since the understanding of PFBC has advanced dramatically in recent years, this review focuses on diagnosis, molecular genetics, genotype-phenotype relationship and treatment in PFBC. DOI: 10.3969/j.issn.1672-6731.2017.07.003","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"484-489"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45575310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/cjcnn.v17i7.1633
Xiao-jun Huang, Xiao-li Liu, Tian Wang, Jun-Yi Shen, S. Chen, Weiguo Tang, Li Cao
Objective To report 4 cases of fatty acid hydroxylase - associated neurodegeneration (FAHN) and to summarize the clinical and genetic characteristics of FAHN by literatures review. Methods Four cases of FAHN patients' clinical and family data were collected in detail. The gDNA of patients and their parents were extracted from peripheral blood. FA2H gene was conducted and followed by Sanger sequencing. Results Among the 4 cases, 3 cases (Case 2, Case 3, Case 4) presented typical manifestations of FAHN while the other (Case 1) was atypical. Genetic sequencing showed FA2H gene mutation in all affected patients. Compound heterozygous mutation c.461G > A (p.Arg154His) and c.794T > G (p.Phe265Cys) were seen in Case 1. In Case 2, only one documented heterozygous mutation c.703C > T (p.Arg235Cys) was found, and dificit mutation was not found in single nucleotide polymorphism (SNP) chip test of the patient and her mother. Compound heterozygous mutation c.688G > A (p.Glu230Lys) and insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47) were presented in Case 3. In Case 4, compound heterozygous mutation c.688G > A (p.Glu230Lys), c.968C > A (p.Pro323Gln) and c.976G > A (p. Gly326Asp) were seen, while his father was the carrier of c.688G > A (p.Glu230Lys) mutation and his mother was the carrier of c.968C > A (p.Pro323Gln) and c.976G > A (p.Gly326Asp) mutation. According to the standard of American College of Medical Genetics and Genomics (ACMG), c.461G > A (p.Arg154His) and c.794T > G (p.Phe265Cys) in Case 1, and c.703C > T (p.Arg235Cys) in Case 2 were considered as "likely pathogenic", while FA2H gene compound heterozygous mutation c.688G > A (p.Glu230Lys), insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47) in Case 3 was as "pathogenic", and in Case 4, the FA2H gene mutation c.688G > A (p.Glu230Lys) and c.968C > A (p.Pro323Gln) were "pathogenic" and c.976G > A (p.Gly326Asp) was "likely pathogenic". Conclusions FAHN has highly clinical and genetic heterogenieity in which spastic paraplegia is the main clinical presentation. In typing diagnosis for patietns with autosomal recessive herditary spastic paraplegia (HSP), especially combined with dyslalia, dysnoesia, and clinical features of white matter lesion and cerebellar atrophy, FA2H gene mutation-induced FAHN should be considered. DOI: 10.3969/j.issn.1672-6731.2017.07.010
{"title":"Clinical phenotype and genetic mutation of fatty acid hydroxylase - associated neurodegeneration: analysis of four cases","authors":"Xiao-jun Huang, Xiao-li Liu, Tian Wang, Jun-Yi Shen, S. Chen, Weiguo Tang, Li Cao","doi":"10.3969/cjcnn.v17i7.1633","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i7.1633","url":null,"abstract":"Objective To report 4 cases of fatty acid hydroxylase - associated neurodegeneration (FAHN) and to summarize the clinical and genetic characteristics of FAHN by literatures review. Methods Four cases of FAHN patients' clinical and family data were collected in detail. The gDNA of patients and their parents were extracted from peripheral blood. FA2H gene was conducted and followed by Sanger sequencing. Results Among the 4 cases, 3 cases (Case 2, Case 3, Case 4) presented typical manifestations of FAHN while the other (Case 1) was atypical. Genetic sequencing showed FA2H gene mutation in all affected patients. Compound heterozygous mutation c.461G > A (p.Arg154His) and c.794T > G (p.Phe265Cys) were seen in Case 1. In Case 2, only one documented heterozygous mutation c.703C > T (p.Arg235Cys) was found, and dificit mutation was not found in single nucleotide polymorphism (SNP) chip test of the patient and her mother. Compound heterozygous mutation c.688G > A (p.Glu230Lys) and insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47) were presented in Case 3. In Case 4, compound heterozygous mutation c.688G > A (p.Glu230Lys), c.968C > A (p.Pro323Gln) and c.976G > A (p. Gly326Asp) were seen, while his father was the carrier of c.688G > A (p.Glu230Lys) mutation and his mother was the carrier of c.968C > A (p.Pro323Gln) and c.976G > A (p.Gly326Asp) mutation. According to the standard of American College of Medical Genetics and Genomics (ACMG), c.461G > A (p.Arg154His) and c.794T > G (p.Phe265Cys) in Case 1, and c.703C > T (p.Arg235Cys) in Case 2 were considered as \"likely pathogenic\", while FA2H gene compound heterozygous mutation c.688G > A (p.Glu230Lys), insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47) in Case 3 was as \"pathogenic\", and in Case 4, the FA2H gene mutation c.688G > A (p.Glu230Lys) and c.968C > A (p.Pro323Gln) were \"pathogenic\" and c.976G > A (p.Gly326Asp) was \"likely pathogenic\". Conclusions FAHN has highly clinical and genetic heterogenieity in which spastic paraplegia is the main clinical presentation. In typing diagnosis for patietns with autosomal recessive herditary spastic paraplegia (HSP), especially combined with dyslalia, dysnoesia, and clinical features of white matter lesion and cerebellar atrophy, FA2H gene mutation-induced FAHN should be considered. DOI: 10.3969/j.issn.1672-6731.2017.07.010","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"534-540"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49483031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/cjcnn.v17i7.1629
Wo-Tu Tian, Xiao-jun Huang, Jun-Yi Shen, Yang-qi Xu, S. Chen, Li Cao
Background Paroxysmal kinesigenic dyskinesia (PKD) is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. We aimed to investigate the clinical features of PKD in a large Chinese population. Methods One hundred and ninety five patients diagnosed as primary PKD were recruited. For all of the participants, neurological examinations were conducted and clinical manifestations were recorded and summarized in self - made uniform registration form for PKD patients. Clinical characteristics were statistically analyzed and compared between familial and sporadic PKD patients. Results Among all of the 195 PKD patients in the present study, the gender ratio was 4.42∶1 (male∶ female). The average age of onset was (12.32 ± 3.49) years. There were 162 patients (83.08%) manifestated with pure form and 33 (16.92%) with complicated form of PKD. Among them 16 patients (8.21%) had essential tremor (ET), and 144 patients (73.85% ) had premonitory symptom. The percentage of patients manifested as dystonia, chorea and mixed form during episodic attacks were 68.72% (134/195), 4.10% (8/195) and 27.18% (53/195) repectively. There were 134 cases (68.72% ) had facial involvement. It was recorded that 115 (58.97%), 54 (27.69%) and 26 (13.33%) patients had frequency of attack 20-30 times/d respectively. The percentages of patients whose duration of attack 30-60 s were 60% (117/195), 29.74% (58/195) and 10.26% (20/195) respectively. There were 64 patietns (32.82%) with family history of PKD and 131 (67.18%) were sporadic PKD patients. Up to 40% (78/195) of patients did not require/take medications, as they had minor clinical manifestations or concerns about the side effects of anticonvulsants. Among 117 patients (60% ) prescribed with anticonvulsants, 114 patients showed a good response, including complete control (N = 106) and partial control (N = 8), and 3 patients were nonresponsive. In comparison with sporadic PKD patients, familial PKD patients had earlier age of onset ( t = 2.376, P = 0.019) and shorter duration of attack ( χ 2 = 7.731, P = 0.021) respectively. Conclusions We summarized the clinical characteristics of PKD patients in mainland China. Through the analysis of large sample data, we hope to improve and standardize the diagnosis and treatment of PKD clinically. DOI: 10.3969/j.issn.1672-6731.2017.07.006
{"title":"Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia","authors":"Wo-Tu Tian, Xiao-jun Huang, Jun-Yi Shen, Yang-qi Xu, S. Chen, Li Cao","doi":"10.3969/cjcnn.v17i7.1629","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i7.1629","url":null,"abstract":"Background Paroxysmal kinesigenic dyskinesia (PKD) is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. We aimed to investigate the clinical features of PKD in a large Chinese population. Methods One hundred and ninety five patients diagnosed as primary PKD were recruited. For all of the participants, neurological examinations were conducted and clinical manifestations were recorded and summarized in self - made uniform registration form for PKD patients. Clinical characteristics were statistically analyzed and compared between familial and sporadic PKD patients. Results Among all of the 195 PKD patients in the present study, the gender ratio was 4.42∶1 (male∶ female). The average age of onset was (12.32 ± 3.49) years. There were 162 patients (83.08%) manifestated with pure form and 33 (16.92%) with complicated form of PKD. Among them 16 patients (8.21%) had essential tremor (ET), and 144 patients (73.85% ) had premonitory symptom. The percentage of patients manifested as dystonia, chorea and mixed form during episodic attacks were 68.72% (134/195), 4.10% (8/195) and 27.18% (53/195) repectively. There were 134 cases (68.72% ) had facial involvement. It was recorded that 115 (58.97%), 54 (27.69%) and 26 (13.33%) patients had frequency of attack 20-30 times/d respectively. The percentages of patients whose duration of attack 30-60 s were 60% (117/195), 29.74% (58/195) and 10.26% (20/195) respectively. There were 64 patietns (32.82%) with family history of PKD and 131 (67.18%) were sporadic PKD patients. Up to 40% (78/195) of patients did not require/take medications, as they had minor clinical manifestations or concerns about the side effects of anticonvulsants. Among 117 patients (60% ) prescribed with anticonvulsants, 114 patients showed a good response, including complete control (N = 106) and partial control (N = 8), and 3 patients were nonresponsive. In comparison with sporadic PKD patients, familial PKD patients had earlier age of onset ( t = 2.376, P = 0.019) and shorter duration of attack ( χ 2 = 7.731, P = 0.021) respectively. Conclusions We summarized the clinical characteristics of PKD patients in mainland China. Through the analysis of large sample data, we hope to improve and standardize the diagnosis and treatment of PKD clinically. DOI: 10.3969/j.issn.1672-6731.2017.07.006","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"507-512"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45064631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-07-25DOI: 10.3969/CJCNN.V17I7.1628
Xiao Zhe, Yanhui Deng
Precision medicine (PM), a new type of medical concept and model which based on personalized medicine, is developed with the fast progress of genetic detection technology and the cross-application of biological information and large data science. Genetic detection technology is the basis of PM. Cerebrovascular disease is a multifactorial disease, in which genetic factors play an important role in the pathogenesis. This paper intends to discuss the application of gene detection technology in the PM of cerebrovascular disease, including single gene genetic disease, genetic polymorphism, drug genetics research and precision treatment. DOI: 10.3969/j.issn.1672-6731.2017.07.005
{"title":"Application of gene detection in precision medicine of cerebrovascular disease","authors":"Xiao Zhe, Yanhui Deng","doi":"10.3969/CJCNN.V17I7.1628","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1628","url":null,"abstract":"Precision medicine (PM), a new type of medical concept and model which based on personalized medicine, is developed with the fast progress of genetic detection technology and the cross-application of biological information and large data science. Genetic detection technology is the basis of PM. Cerebrovascular disease is a multifactorial disease, in which genetic factors play an important role in the pathogenesis. This paper intends to discuss the application of gene detection technology in the PM of cerebrovascular disease, including single gene genetic disease, genetic polymorphism, drug genetics research and precision treatment. DOI: 10.3969/j.issn.1672-6731.2017.07.005","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"500-506"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42677372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：