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المؤلفون: Yongping Chen, Ke Chen, Jean-Marc Burgunder, Qianqian Wei, Jing Yang, Bei Cao, Huifang Shang
المصدر: Neurological Research. 38:916-920
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Statistics as Topic, Disease, 030105 genetics & heredity, Irritability, Neuropsychiatry, Severity of Illness Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Huntington's disease, Rating scale, Internal medicine, Prevalence, medicine, Humans, Apathy, Psychiatry, Retrospective Studies, Psychiatric Status Rating Scales, Huntingtin Protein, Mood Disorders, General Medicine, Middle Aged, medicine.disease, Huntington Disease, Neurology, Anxiety, Female, Neurology (clinical), Age of onset, medicine.symptom, Cognition Disorders, Psychology, 030217 neurology & neurosurgery
الوصف: Huntington's disease (HD) is a neurodegenerative disease caused by the expansion of unstable CAG repeats in the HTT gene. There are scarce data about HD in China. Fifty-eight HD patients were consecutively recruited and assessed using the Unified HD Rating Scale (UHDRS) motor section and UHDRS behaviour assessment (UHDRS-b). Genetic analyses were also conducted. Thirty-three women and Twenty -five men were diagnosed with a mean age of 46.1 ± 11.2 years and a mean number of CAG triplet repeats 44.6 ± 4.4. CAG triplet repeat number was negatively correlated with age at onset, and positively correlated with UHDRS-b total score, and its subdomains including depressed mood, low self-esteem, anxiety and irritability. On the other hand, negative correlations were identified between age at onset and UHDRS-b total score, and its subdomains include low self-esteem, anxiety, suicidal thought, irritability and apathy. Disease durations were correlated with UHDRS motor scores and anxiety domain of UHDRS-b. This is the largest series of Chinese HD patients with demographic, clinical and genetic data confirms the demographic features of Chinese HD patients are comparable to those in other ethnic backgrounds. CAG triplet repeat number may also predict the severity of behaviour problems in HD patients besides its predication for age of onset.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ff3cb438c946fb28c367f3d25035a4Test
https://doi.org/10.1080/01616412.2016.1214555Test -
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المؤلفون: Jean-Marc Burgunder, Yongping Chen, Yi Jiang, Xueping Chen, Ke Chen, Bi Zhao, Rui Huang, Bei Cao, Huifang Shang, Wei Song
المصدر: Journal of the Neurological Sciences. 323:228-231
مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Adolescent, Genotype, Bioinformatics, Polymorphism, Single Nucleotide, Young Adult, Asian People, Gene Frequency, Risk Factors, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, Allele, Sensory trick, 3' Untranslated Regions, Allele frequency, Alleles, Dystonia, business.industry, Middle Aged, Focal dystonia, medicine.disease, Genotype frequency, Minor allele frequency, Neurology, Dystonic Disorders, Case-Control Studies, Female, Neurology (clinical), business, Molecular Chaperones
الوصف: Background The deletion mutation of glutamate codon (GAG) in the TOR1A gene is a major cause of primary generalized dystonia. Recent genetic studies suggest that the rs1182 polymorphism in the same gene may represent a risk factor for primary dystonia. However, this finding has been inconsistent. Furthermore, no data on such an association in a Chinese population have been published. Methods A total of 291 patients with primary dystonia from the Department of Neurology, West China Hospital of Sichuan University were included. From the same region, 294 healthy individuals were recruited as a control group. The SNP was identified by polymerase chain reaction–restriction fragment length polymorphism. Results In the present study, focal dystonia was the most common presented form. No difference was found in the genotype frequency, minor allele frequencies, and “G” allele frequency between all dystonia patients and controls. No difference was found either, between early- and late-onset dystonia patients, patients with and without a positive family history, patients with pain and without pain, and patients with and without sensory trick. Moreover, no significant differences in the genotype and allele frequencies were found among different dystonia subtypes. Conclusion No association of the rs1182 of TOR1A with Chinese primary dystonia was found. More studies on such an association involving a larger number of participants, especially from Asian populations, are needed to confirm the present findings.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ce1e23969abce4f74f615c4ba914e9Test
https://doi.org/10.1016/j.jns.2012.09.025Test -
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المصدر: Parkinsonism & Related Disorders. 46:e33
مصطلحات موضوعية: Gerontology, Neurology, Huntington's disease, business.industry, Cross-sectional study, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, China, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e5bc5c81b56e8edda02a58518a9f18d3Test
https://doi.org/10.1016/j.parkreldis.2017.11.107Test -
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المؤلفون: Wei Song, Yongping Chen, Rui Huang, Bei Cao, Jean-Marc Burgunder, Huifang Shang, Ke Chen, Bi Zhao, Jing Yang
المصدر: Parkinsonism & Related Disorders. 19:1043-1045
مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Blepharospasm, Polymorphism, Single Nucleotide, Gastroenterology, Young Adult, Methionine, Polymorphism (computer science), Internal medicine, Genotype, medicine, Humans, SNP, Cervical dystonia, Genetic Association Studies, Torticollis, Genetic association, Dystonia, Genetics, business.industry, Brain-Derived Neurotrophic Factor, Valine, Middle Aged, medicine.disease, Minor allele frequency, Neurology, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business
الوصف: Background The etiology of primary dystonia remains unclear. Recent genetic studies suggest that the Val66Met polymorphism of the BDNF gene is a genetic modifier in cranial–cervical dystonia in Caucasians. However, the finding is not consistent. Patients and Methods A total of 193 patients with primary cranial–cervical dystonia from the Department of Neurology, West China Hospital of Sichuan University was included. From the same region, 216 healthy individuals were recruited as a control group. The Val66Met SNP was identified by polymerase chain reaction-restriction fragment length polymorphism. Results In the present study, cervical dystonia (59.59%) was the most common type of primary cranial–cervical dystonia. No significant difference was found in the genotype and minor allele frequencies between all patients and controls, between cervical dystonia patients and controls, and between craniocervical dystonia patients and controls. However, significant differences were found in the genotype and minor allele frequencies of Val66Met SNP between blepharospasm (BSP) patients and controls ( P = 0.0080 and P = 0.0042, respectively), and between BSP patients and patients with craniocervical derived from BSP ( P = 0.0010 and P = 0.0002, respectively). Conclusion Minor allele “A” of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia. More association studies involving a larger number of participants are needed to confirm the present findings.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a28b1d59197fca70bb86b85bb04e20eTest
https://doi.org/10.1016/j.parkreldis.2013.06.004Test -
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المؤلفون: Huifang Shang, Zu-Ming Luo, Shu-Hui Wu, Shu-Shan Zhang, Yuan Yang, Qin Chen, Xueping Chen, Yang-Wei Zhang, Jean-Marc Burgunder
المصدر: Movement Disorders. 23:1472-1475
مصطلحات موضوعية: Male, Myoclonus, China, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, RNA Stability, Nonsense mutation, Gene mutation, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Frameshift mutation, Exon, SGCE, Sarcoglycans, medicine, Humans, RNA, Messenger, Child, Frameshift Mutation, Dystonia, Genetics, Exons, medicine.disease, Introns, Stop codon, Pedigree, Mutagenesis, Insertional, Phenotype, Neurology, Codon, Nonsense, Dystonic Disorders, Mutation (genetic algorithm), Female, Neurology (clinical)
الوصف: In a Chinese myoclonus-dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the epsilon-sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real-time PCR, suggesting that the nonsense mutation might interfere with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f29b383d1b454920c3367ff1697e3eTest
https://doi.org/10.1002/mds.22008Test -
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المصدر: Parkinsonism & Related Disorders. 18:S107-S109
مصطلحات موضوعية: Involuntary movement, China, medicine.medical_specialty, Genotype, Chorea, Disease, Biology, medicine.disease, Phenotype, Huntington Disease, Neurology, Huntington's disease, Neuroacanthocytosis, medicine, Humans, Neurology (clinical), Geriatrics and Gerontology, Cognitive decline, medicine.symptom, Psychiatry, Neuroscience, Genome-Wide Association Study
الوصف: Huntington's disease typically presents with involuntary movements, cognitive decline and behavioural abnormalities; however, new data show a greater spectrum and more complexity in the mode of presentation than previously appreciated. On one hand efforts are under way to better assess all aspects of the evolving phenotype over the course of the disease, on the other hand large cohorts have been prospectively followed-up and similar efforts are now being started in China. In this communication, we briefly review the most salient findings from the last couple of years. The recently established large cohorts allow the performance of accurate studies examining correlation of genetic polymorphisms with specific aspects of the phenotype thus allowing for some mechanistic insight into the causes of phenotypic variation. While Huntington's disease is the most frequent hereditary cause of chorea, other disorders with similar clinical phenotypes, including neuroacanthocytosis, are now better known, including a better understanding of the primary cause as well as the pathophysiology at the molecular level. Studies on the mechanisms of disease in these different disorders may shed light on the respective pathomechanisms and may open new approaches to a better understanding and additional treatment options for choreatiform neurodegenerative disorders.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6e6ef11ef62385290478b4865588ceTest
https://doi.org/10.1016/s1353-8020Test(11)70034-7 -
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المؤلفون: Cong-Xia Lu, Qi-Lin Ma, Xiao-Rong Zhang, Jean-Marc Burgunder, Qing Lin, Xingkai An, Hongli Qu
المصدر: Neuroscience letters. 549
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Aura, Migraine Disorders, Gastroenterology, Polymorphism, Single Nucleotide, Asian People, Gene Frequency, Polymorphism (computer science), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Lymphotoxin-alpha, Monoamine Oxidase, Alleles, Genetic Association Studies, Methylenetetrahydrofolate Reductase (NADPH2), Genetics, biology, business.industry, General Neuroscience, Middle Aged, medicine.disease, Migraine with aura, Migraine, Methylenetetrahydrofolate reductase, Case-Control Studies, biology.protein, Female, medicine.symptom, business
الوصف: A number of genes have been implicated in the pathogenesis of migraine, a common neurological disorder also in China. However, data on association of genetic variations with migraine susceptibility among Chinese, which might be different from people of other ethnic background, are still scarce. We have therefore investigated the association of polymorphisms in four genes, MTHFR C677T, ACE I/D, MAOA T941G and TNF-β G252A, which are considered to be with risk of migraine. A case-control study including a cohort of 151 migraine cases and 137 ethnically matched controls was conducted. The genotypes of each polymorphism followed the Hardy-Weinberg equilibrium in the two groups. Genotypic distribution of MTHFR C677T was significantly different with higher frequency of allele T in the migraine cohort as compared with that in controls (OR=1.686, 95%CI: 1.175-2.420, P=0.004). No difference was found between migraine with aura (MA) patients and controls, but T allele frequency was significantly higher in migraine without aura (MO) than in controls (OR=1.744, 95% CI: 1.202-2.532, P=0.003). No difference in genotypic and allelic distributions was observed between migraine patients and controls for the other polymorphisms, including ACE I/D, MAOA T941G, and TNF-β G252A. Our data suggested that MTHFR C677T polymorphism plays a role in Chinese migraine susceptibility, especially in MO.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::760e5c59d44a69308955935743312675Test
https://pubmed.ncbi.nlm.nih.gov/23811028Test -
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المؤلفون: Yongping Chen, R. Huang, X. P. Chen, K. Chen, J. Yang, Jean-Marc Burgunder, B. Zhao, Wei Song, Huifang Shang, Z.-Z. Zheng
المصدر: European journal of neurology. 21(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Adolescent, Aura, DNA Mutational Analysis, Nerve Tissue Proteins, medicine.disease_cause, Gastroenterology, Exon, Young Adult, Chorea, Internal medicine, medicine, Humans, In patient, Insertion, Age of Onset, Child, Gene, Genetics, Mutation, business.industry, Membrane Proteins, Paroxysmal dyskinesia, musculoskeletal system, Dystonia, Neurology, cardiovascular system, Female, Neurology (clinical), business, PRRT2
الوصف: Background and purpose Proline-rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely unknown. Methods Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study. Results The mean onset age of the patients was 12.50 ± 2.70 years. Sixteen patients (48.48%) had sensory aura before their attacks. In total, 66.67% of the patients were running when the attacks occurred. c.649_650insC (p.P217fsX7), the most commonly reported insertion mutation, was identified in nine patients (27.27%). Conclusions Other genes are involved in the development of PKD, but PRRT2 is a common causative gene for patients with PKD from Southwest China.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13f88ff53a02f70117dcfeae1035222Test
https://pubmed.ncbi.nlm.nih.gov/23496026Test -
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المؤلفون: Huifang Shang, Zhenzhen Zheng, Jean-Marc Burgunder, Xiaoyan Guo
المصدر: PLoS Currents
Zheng, Zhenzhen; Burgunder, Jean-Marc; Shang, Huifang; Guo, Xiaoyan (2012). Huntington's like conditions in China, A review of published Chinese cases. PLoS currents, 4, RRN1302. Lawrence, Kans.: Public Library of Scienceمصطلحات موضوعية: Involuntary movement, Pediatrics, medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Medicine (miscellaneous), Knowledge infrastructure, Disease, Huntington Disease, Medicine, Observational study, Family history, business, China, Medical literature, Genetic testing
الوصف: Background: Knowledge about HD in China is lacking in the international literature. We have therefore analyzed the Chinese literature to thoroughly explore the clinical characteristics of Huntington disease in China. Methods: A computer-based online search of China National Knowledge Infrastructure was performed to review case reports concerning HD published between January 1980 and April of 2011, and the clinical characteristics were extracted. Results: A total of 92 studies involving 279 patients (157 males and 122 females) were collected, 82.0% of which were from provinces of North China. Most of the cases (97.8%) had a family history of HD, and paternal inheritance (65.5%) was higher than maternal inheritance (34.5%). Onset age was 35.8 (± 11.8) years, death occurred with 45.6 (± 13.5) years after a course of 11.6 (± 5.6) years. Involuntary movements were the most frequent reported presentation (found in 52.3%, including 64.4% in the entire body, 19.8% in the upper limbs, and 13.7% in the head and face). Psychiatric symptoms at onset were reported in 16.1%, and cognitive impairment in 1.8%. With disease progression, 99.6% of patients had abnormal movements, 67.9% cognitive impairment, and 35.0% suffered psychiatric symptoms. Of the reported patients, only 22 underwent IT15 gene testing with positive results. Conclusion: HD is a well-reported entity in Chinese medical literature, however, only a small number of instances have been proven by molecular diagnosis. Most of the features resemble what is known in other countries. The highly predominant motor presentation, and the higher male prevalence as well as the apparent concentration in Northern China may be due to observational bias. There is therefore a need to prospectively examine cohorts of patients with appropriate comprehensive assessment tools including genetic testing.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5059f80a2e52b8a74a7171fc3c061301Test
https://pubmed.ncbi.nlm.nih.gov/22453898Test -
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المؤلفون: Jin-Hong Zhang, Xue-Ye Mao, Nan-Nan Li, Jean-Marc Burgunder, Huihua Li, Rong Peng, Eng-King Tan, Xue-Li Chang
المصدر: Journal of the neurological sciences. 302(1-2)
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, China, Genotype, Ubiquitin-Protein Ligases, Population, Polymorphism, Single Nucleotide, Parkin, Polymorphism (computer science), Internal medicine, medicine, SNP, Humans, Risk factor, Allele, education, Promoter Regions, Genetic, Aged, Genetics, education.field_of_study, Polymorphism, Genetic, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Parkinson Disease, Middle Aged, Genotype frequency, Neurology, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Female, Neurology (clinical), business
الوصف: Background A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients. Methods Using a case–control methodology, we genotyped the SNP in the promoter region of the parkin gene to investigate their association with risk of PD and conducted a pooled analysis of published papers in the English literature. Results A total of 1087 study subjects comprising 595 patients with PD and 492 unrelated healthy controls were recruited. The frequency of “GG” genotype in the elderly sub-group (≥ 65 years) was higher in PD compared to controls (OR = 1.11) though we did not observe any difference in allele or genotype frequencies between the cases and the controls (P > 0.05) in the overall PD population. Those with genotype “GG” were associated with a higher Hoehn–Yahr stage compared with PD patients carrying “GT” + “TT” (P = 0.040). A pooled analysis involving more than > 3000 subjects revealed that the frequency of genotypes in PD patients did not differ from the controls (OR = 0.98, 95% CI: 0.86–1.12). However, in the group ≥ 65 years of age, the “GG” genotype was higher in PD (OR = 1.51, 95% CI: 1.06–2.13, P = 0.020) among the ethnic Chinese. Conclusions While we did not demonstrate a significant association of the parkin promoter polymorphism with PD in our sample, the pooled data suggest that the variant may increase the risk of PD in the more elderly population among the ethnic Chinese, suggesting possible ethnicity-specific effect. Further in vitro and in vivo studies to evaluate this functional parkin variant are warranted.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e0b0e06e13e2ea10ff38636be9cfecTest
https://pubmed.ncbi.nlm.nih.gov/21176923Test
