Pub Date : 2017-09-25DOI: 10.3969/CJCNN.V17I9.1656
Hong-ju Zhang, Ying-ying Bai, Hong Wang, Yao Zhou, Y. You, Yulong Qin, Zhonglin Li, Ya-meng Zhang, Jiewen Zhang
Objective To explore the relation between abnormal functional connectivity of substantia nigra and impairment of movement and cognition in patients with rapid eye movement sleep behavior disorder (RBD). Methods A total of 22 subjects, including 14 patients with RBD and 8 sex, age, education-matched healthy controls, were enrolled in this study according to international diagnostic criteria. Unified Parkinson's Disease Rating Scale Ⅲ (UPDRS Ⅲ) and Hoehn-Yahr Stage were used to evaluate motor function. Digit Ordering Test - Attention (DOT - A), Symbol Digit Modalities Test (SDMT), Stroop Color-Word Test (SCWT), Trail Making Test (TMT), Rey-Osterrieth Complex Figure Test (ROCFT), Clock Drawing Test (CDT), Boston Naming Test (BNT) and Auditory Verbal Learning Test (AVLT) were used to evaluate cognitive function. The functional connectivity from left and right substantia nigra to brain region were examined. Results There were no statistical differences of UPDRSⅢ and Hoehn?Yahr Stage between 2 groups ( P > 0.05, for all). In comparison with control group, SDMT ( P = 0.001), ROCFT-copy ( P = 0.013) and AVLT-N2 ( P = 0.032) were significantly lower, while TMT-B test was significantly higher ( P =0.005) in RBD group. Compared with control group, the functional connectivity of right substantia nigra to left precentral gyrus ( P < 0.005) and right angular gyrus ( P < 0.005) were all decreased in RBD group. Conclusions The results suggest that cognitive impairment occurs earlier than movement disorders in RBD, and there are abnormal functional connectivity from right substantia nigra to left precentral gyrus and right angular gyrus, proving that abnormal functional connectivity is the base of behavior disorders in RBD. DOI: 10.3969/j.issn.1672-6731.2017.09.005
{"title":"Study on the relation of brain functional connectivity to movement disorders and cognitive impairment in patients with rapid eye movement sleep behavior disorder","authors":"Hong-ju Zhang, Ying-ying Bai, Hong Wang, Yao Zhou, Y. You, Yulong Qin, Zhonglin Li, Ya-meng Zhang, Jiewen Zhang","doi":"10.3969/CJCNN.V17I9.1656","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I9.1656","url":null,"abstract":"Objective To explore the relation between abnormal functional connectivity of substantia nigra and impairment of movement and cognition in patients with rapid eye movement sleep behavior disorder (RBD). Methods A total of 22 subjects, including 14 patients with RBD and 8 sex, age, education-matched healthy controls, were enrolled in this study according to international diagnostic criteria. Unified Parkinson's Disease Rating Scale Ⅲ (UPDRS Ⅲ) and Hoehn-Yahr Stage were used to evaluate motor function. Digit Ordering Test - Attention (DOT - A), Symbol Digit Modalities Test (SDMT), Stroop Color-Word Test (SCWT), Trail Making Test (TMT), Rey-Osterrieth Complex Figure Test (ROCFT), Clock Drawing Test (CDT), Boston Naming Test (BNT) and Auditory Verbal Learning Test (AVLT) were used to evaluate cognitive function. The functional connectivity from left and right substantia nigra to brain region were examined. Results There were no statistical differences of UPDRSⅢ and Hoehn?Yahr Stage between 2 groups ( P > 0.05, for all). In comparison with control group, SDMT ( P = 0.001), ROCFT-copy ( P = 0.013) and AVLT-N2 ( P = 0.032) were significantly lower, while TMT-B test was significantly higher ( P =0.005) in RBD group. Compared with control group, the functional connectivity of right substantia nigra to left precentral gyrus ( P < 0.005) and right angular gyrus ( P < 0.005) were all decreased in RBD group. Conclusions The results suggest that cognitive impairment occurs earlier than movement disorders in RBD, and there are abnormal functional connectivity from right substantia nigra to left precentral gyrus and right angular gyrus, proving that abnormal functional connectivity is the base of behavior disorders in RBD. DOI: 10.3969/j.issn.1672-6731.2017.09.005","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"648-653"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44900178","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 : 2017-09-25DOI: 10.3969/cjcnn.v17i9.1661
Xiao-ling Yan, Fan Tang, Z. Han, Xue-bin Zhang, Shu-mei Jin
Objective To study clinicopathological features, diagnosis and differential diagnosis of atypical lung carcinoid metastasis to the pituitary gland based on clinical data of one patient. Methods and Results A 81-year-old female presented headache and sudden blindness, and head MRI showed that there was a lesion at the saddle area. The tumor was detected at intrasellar and in grayish red during surgery. The diameter of tumor was 2 cm. The tumor was soft with no envelop at and well-defined margins, and insufficiency in blood supply. The tumor was removed completely along its edge. Under optical microscopy, the tumor was consisted of small round cells of the same size. Tumor cells were distributed around blood vessels in a nest manner or diffuse manner with brisk mitotic activity and focal necrosis. By using immunohistochemical staining, the tumor cells were diffusely positive for synaptophysin (Syn), CD56 and thyoid transcription factor - 1 (TTF - 1), focal positive for cytokeratin (CK) and P53, and negative for growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), luteinizing hormone (LH), S-100 protein (S-100), thyroglobulin (TG) and calcitonin. Ki?67 labeling index was about 33%. Conclusions Pituitary metastasis is a rare tumor, and only a few cases of atypical lung carcinoid metastasis to the pituitary gland have been reported. Definite diagnosis could be made by history, typical histopathological characteristics and immunohistochemical expressions. DOI: 10.3969/j.issn.1672-6731.2017.09.010
{"title":"Atypical lung carcinoid metastasis to the pituitary gland","authors":"Xiao-ling Yan, Fan Tang, Z. Han, Xue-bin Zhang, Shu-mei Jin","doi":"10.3969/cjcnn.v17i9.1661","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i9.1661","url":null,"abstract":"Objective To study clinicopathological features, diagnosis and differential diagnosis of atypical lung carcinoid metastasis to the pituitary gland based on clinical data of one patient. Methods and Results A 81-year-old female presented headache and sudden blindness, and head MRI showed that there was a lesion at the saddle area. The tumor was detected at intrasellar and in grayish red during surgery. The diameter of tumor was 2 cm. The tumor was soft with no envelop at and well-defined margins, and insufficiency in blood supply. The tumor was removed completely along its edge. Under optical microscopy, the tumor was consisted of small round cells of the same size. Tumor cells were distributed around blood vessels in a nest manner or diffuse manner with brisk mitotic activity and focal necrosis. By using immunohistochemical staining, the tumor cells were diffusely positive for synaptophysin (Syn), CD56 and thyoid transcription factor - 1 (TTF - 1), focal positive for cytokeratin (CK) and P53, and negative for growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), luteinizing hormone (LH), S-100 protein (S-100), thyroglobulin (TG) and calcitonin. Ki?67 labeling index was about 33%. Conclusions Pituitary metastasis is a rare tumor, and only a few cases of atypical lung carcinoid metastasis to the pituitary gland have been reported. Definite diagnosis could be made by history, typical histopathological characteristics and immunohistochemical expressions. DOI: 10.3969/j.issn.1672-6731.2017.09.010","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"674-679"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47426829","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 : 2017-09-25DOI: 10.3969/cjcnn.v17i9.1653
Shuai Liu, Bin Zhang
In June 2016, in order to provide a standardized clinical reference for the diagnosis and treatment of insomnia, "Guidelines for the diagnosis and treatment of insomnia disorder in China" compiled by Chinese Sleep Research Society (CSRS) was published. The guideline was compiled according to the standards of evidence-based medicine and the latest International Classification of Sleep Disorders Third Edition (ICSD - 3). It emphasized the role of cognitive behavioral treatment (CBT) in the treatment of insomnia, and enriched the assessment and interventions for special populations. This paper intends to provide an explanation and supplement to the compiling process and key elements of the guideline in details, in order to offer some help and guidance for clinicians for better understanding and application of the guideline. DOI: 10.3969/j.issn.1672-6731.2017.09.002
{"title":"Interpretation of \"Guidelines for the diagnosis and treatment of insomnia disorder in China\"","authors":"Shuai Liu, Bin Zhang","doi":"10.3969/cjcnn.v17i9.1653","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i9.1653","url":null,"abstract":"In June 2016, in order to provide a standardized clinical reference for the diagnosis and treatment of insomnia, \"Guidelines for the diagnosis and treatment of insomnia disorder in China\" compiled by Chinese Sleep Research Society (CSRS) was published. The guideline was compiled according to the standards of evidence-based medicine and the latest International Classification of Sleep Disorders Third Edition (ICSD - 3). It emphasized the role of cognitive behavioral treatment (CBT) in the treatment of insomnia, and enriched the assessment and interventions for special populations. This paper intends to provide an explanation and supplement to the compiling process and key elements of the guideline in details, in order to offer some help and guidance for clinicians for better understanding and application of the guideline. DOI: 10.3969/j.issn.1672-6731.2017.09.002","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"633-638"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46973597","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 : 2017-09-25DOI: 10.3969/cjcnn.v17i9.1652
Yu-ping Wang
{"title":"Improve the understandings of standardized diagnosis and treatment of restless legs syndrome","authors":"Yu-ping Wang","doi":"10.3969/cjcnn.v17i9.1652","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i9.1652","url":null,"abstract":"","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"629-632"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48571960","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 : 2017-09-25DOI: 10.3969/CJCNN.V17I9.1665
Jie Li, C. Mao, X. Wan, B. Peng, L. Cui
{"title":"Unsteady gait and weakness of limbs for three months","authors":"Jie Li, C. Mao, X. Wan, B. Peng, L. Cui","doi":"10.3969/CJCNN.V17I9.1665","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I9.1665","url":null,"abstract":"","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"697-702"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49632173","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 : 2017-08-25DOI: 10.3969/CJCNN.V17I8.1642
Meng Yu, Zhao-xia Wang
Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype and genetic defects. The diagnosis should be based on the combination of the clinical symptoms, muscle imaging findings, myo-pathological changes and genetic testing. Multi - discipline management is currently for patients. There has been progress in the diagnosis and treatment of LGMD worldwide in recent years. This review will summarize the advances in the LGMD diagnosis, treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD. DOI: 10.3969/j.issn.1672-6731.2017.08.005
{"title":"Advances in diagnosis and treatment of limb-girdle muscular dystrophy","authors":"Meng Yu, Zhao-xia Wang","doi":"10.3969/CJCNN.V17I8.1642","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I8.1642","url":null,"abstract":"Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype and genetic defects. The diagnosis should be based on the combination of the clinical symptoms, muscle imaging findings, myo-pathological changes and genetic testing. Multi - discipline management is currently for patients. There has been progress in the diagnosis and treatment of LGMD worldwide in recent years. This review will summarize the advances in the LGMD diagnosis, treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD. DOI: 10.3969/j.issn.1672-6731.2017.08.005","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"578-585"},"PeriodicalIF":0.0,"publicationDate":"2017-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41746511","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.V17I7.1630
Kunpeng Xie, W. Gu, Y. Hao, Yuan-yuan Chen, Jin Zhang, Xin Zhang
Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results. Methods A 30-year-old male patient's medical information, clinical pheontype, family history and accessory examinations were collected. The next?generation sequencing (NGS) of exons in 3994 causative genes of Mendelian inheritance diseases and the family tree verification were carried out. China Human Phenotype Ontology (CHPO), Phenomizer, Ensembl and Online Mendelian Inheritance in Man (OMIM) database were used to interpret the genetic test results. Results The patient carried heterozygous mutation of spinocerebellar ataxia type 19 (SCA19) related KCND3 gene c.1057A > G (p. Ser353Gly), but his parents did not carry this mutation. The patient also carried heterozygous mutation of parkinsonism type 20 (PARK20) related SYNJ1 gene c.4436C > T (p.Thr1479Ile) which was also seen in his mother. Phenotypic similarity analysis showed the patient's phenotype was correspond with the phenotype of SCA19, and the variation locus of KCND3 gene c.1057A > G was highly conservative with homologous gene in different species. Conclusions By means of the integration of clinical phenotype with the result of genetic test, KCND3 gene c.1057A > G (p.Ser353Gly) carried in the patient is the pathogenic mutation. DOI: 10.3969/j.issn.1672-6731.2017.07.007
目的将临床特征、辅助检查与基因检测相结合，对1例头震颤合并小脑萎缩患者进行诊断，并探讨基因检测结果的解释。方法收集1例30岁男性患者的医疗资料、临床表型、家族史及附属检查资料。下一个?对3994个孟德尔遗传病致病基因外显子进行世代测序(NGS)，并进行家谱验证。使用中国人类表型本体(CHPO)、表型izer、Ensembl和在线孟德尔遗传(OMIM)数据库对基因检测结果进行解释。结果患者携带脊髓小脑性共济失调19型(SCA19)相关KCND3基因c.1057A > G杂合突变(p. Ser353Gly)，但其父母未携带该突变。患者还携带帕金森病20型(PARK20)相关SYNJ1基因c.4436C > T (p.Thr1479Ile)杂合突变，该突变在其母亲中也可见。表型相似性分析显示患者表型与SCA19表型一致，KCND3基因c.1057A > G变异位点在不同物种中与同源基因高度保守。结论综合临床表型和基因检测结果，患者携带的KCND3基因c.1057A > G (p.Ser353Gly)为致病突变。DOI: 10.3969 / j.issn.1672-6731.2017.07.007
{"title":"Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy","authors":"Kunpeng Xie, W. Gu, Y. Hao, Yuan-yuan Chen, Jin Zhang, Xin Zhang","doi":"10.3969/CJCNN.V17I7.1630","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1630","url":null,"abstract":"Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results. Methods A 30-year-old male patient's medical information, clinical pheontype, family history and accessory examinations were collected. The next?generation sequencing (NGS) of exons in 3994 causative genes of Mendelian inheritance diseases and the family tree verification were carried out. China Human Phenotype Ontology (CHPO), Phenomizer, Ensembl and Online Mendelian Inheritance in Man (OMIM) database were used to interpret the genetic test results. Results The patient carried heterozygous mutation of spinocerebellar ataxia type 19 (SCA19) related KCND3 gene c.1057A > G (p. Ser353Gly), but his parents did not carry this mutation. The patient also carried heterozygous mutation of parkinsonism type 20 (PARK20) related SYNJ1 gene c.4436C > T (p.Thr1479Ile) which was also seen in his mother. Phenotypic similarity analysis showed the patient's phenotype was correspond with the phenotype of SCA19, and the variation locus of KCND3 gene c.1057A > G was highly conservative with homologous gene in different species. Conclusions By means of the integration of clinical phenotype with the result of genetic test, KCND3 gene c.1057A > G (p.Ser353Gly) carried in the patient is the pathogenic mutation. DOI: 10.3969/j.issn.1672-6731.2017.07.007","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"513-518"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41990354","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}
Objective To explore the clinical features, genetic mutation and vitamin B 12 therapeutive effectiveness in vitamin B 12- dependent methylmalonic acidemia (MMA). Methods Clinical data in a pedigree of 4 members with vitamin B 12- dependent MMA was collected. Peripheral blood samples were collected for plasma amino acids and acylcarnitines and gene muatation analysis. The therapeutic efficacy of vitamin B 12 was evaluated. Results The initial presentations of the proband were underachievement and personality changes in 12-year old, and accompanied by visual hallucinations and weakness of lower limbs during the course of disease. The younger brother of the proband presented with bad-temper and lower acheivement. The analysis of plasma amino acid and acylcarnitine showed that proband and his younger brother's plasma propionylcarnitine and propionylcarnitine/acetylcarnitine ratio, and the level of methylmalonic acid in urine were increased significantly. Compound heterozygeous mutation of c.482G > A (p.Arg161Gln) and c.609G > A (p.Trp203X) in MMACHC gene were seen in the proband and her younger brother. Her father carried MMACHC gene missense mutation c.482G > A (p.Arg161Gln), while her mother carried MMACHC gene nonsense mutation c.609G > A (p.Trp203X). Symptoms of the proband were improved after vitamin B12 therapy. Conclusions The late - onset vitamin B 12 -dependent MMA is caused by compound heterozygote mutation of MMACHC gene. It had good responsive to vitamin B12 therapy. Early diagnosis and timely treatment may play a critical role for the outcomes of patients with this disease. DOI: 10.3969/j.issn.1672-6731.2017.07.009
目的探讨维生素b12依赖性甲基丙二酸血症(MMA)的临床特点、基因突变及维生素b12的治疗效果。方法收集4例维生素b12依赖性MMA家系的临床资料。采集外周血进行血浆氨基酸、酰基肉碱及基因突变分析。评价维生素b12的治疗效果。结果先证者在12岁时以学习成绩差、人格改变为首发表现，病程中伴视幻觉、下肢无力。先证者的弟弟脾气暴躁，成绩较差。血浆氨基酸和酰基肉碱分析显示先证者及其弟弟的血浆丙酰肉碱和丙酰肉碱/乙酰肉碱比值以及尿中甲基丙二酸水平均显著升高。先证者及其弟弟均存在MMACHC基因c.482G > A (p.Arg161Gln)和c.609G > A (p.Trp203X)复合杂合突变。父亲携带MMACHC基因错义突变c.482G > A (p.Arg161Gln)，母亲携带MMACHC基因无义突变c.609G > A (p.Trp203X)。先证者的症状在维生素B12治疗后得到改善。结论晚发型维生素b12依赖性MMA是由MMACHC基因复合杂合子突变引起的。它对维生素B12治疗反应良好。早期诊断和及时治疗可能对该疾病患者的预后起关键作用。DOI: 10.3969 / j.issn.1672-6731.2017.07.009
{"title":"Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria","authors":"L. Jing, Yiming Sun, Liming Ou, Yuling Zhu, Liang Wang, Huan Li, Cheng Zhang","doi":"10.3969/CJCNN.V17I7.1632","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1632","url":null,"abstract":"Objective To explore the clinical features, genetic mutation and vitamin B 12 therapeutive effectiveness in vitamin B 12- dependent methylmalonic acidemia (MMA). Methods Clinical data in a pedigree of 4 members with vitamin B 12- dependent MMA was collected. Peripheral blood samples were collected for plasma amino acids and acylcarnitines and gene muatation analysis. The therapeutic efficacy of vitamin B 12 was evaluated. Results The initial presentations of the proband were underachievement and personality changes in 12-year old, and accompanied by visual hallucinations and weakness of lower limbs during the course of disease. The younger brother of the proband presented with bad-temper and lower acheivement. The analysis of plasma amino acid and acylcarnitine showed that proband and his younger brother's plasma propionylcarnitine and propionylcarnitine/acetylcarnitine ratio, and the level of methylmalonic acid in urine were increased significantly. Compound heterozygeous mutation of c.482G > A (p.Arg161Gln) and c.609G > A (p.Trp203X) in MMACHC gene were seen in the proband and her younger brother. Her father carried MMACHC gene missense mutation c.482G > A (p.Arg161Gln), while her mother carried MMACHC gene nonsense mutation c.609G > A (p.Trp203X). Symptoms of the proband were improved after vitamin B12 therapy. Conclusions The late - onset vitamin B 12 -dependent MMA is caused by compound heterozygote mutation of MMACHC gene. It had good responsive to vitamin B12 therapy. Early diagnosis and timely treatment may play a critical role for the outcomes of patients with this disease. DOI: 10.3969/j.issn.1672-6731.2017.07.009","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"526-533"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42841680","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.v17i7.1637
T. Han
2017 年 7 月第 17 卷第 7 期 Chin J Contemp Neurol Neurosurg, July 2017, Vol. 17, No. 7 kinesigenic dyskinesias and pseudohypo ⁃parathyroidism type I b. Pediatr Neurol, 2010, 43:61⁃64. Huang XJ, Cao L, Chen SD. Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2013, 13:457⁃462. [黄啸君, 曹立, 陈生弟. 发作性动作诱发性运动障 碍临床表现及遗传学研究进展. 中国现代神经疾病杂志, [22] 2013, 13:457⁃462.] Wang JD, Bi GR, Cong SY, Zheng DM, Xu FF. Four cases of paroxysmal kinesigenic dyskinesia. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2009, 9:309 ⁃310. [王建东, 毕国荣, 丛树 艳, 郑东明, 徐菲菲. 发作性运动诱发舞蹈手足徐动症四例. 中国现代神经疾病杂志, 2009, 9:309⁃310.] (收稿日期:2017⁃06⁃20) [23]
2017 年 7 月第 17 卷第 7 期 Chin J Contemp Neurol Neurosurg, July 2017, Vol. 17, No. 7 kinesigenic dyskinesias and pseudohypo ⁃parathyroidism type I b. Pediatr Neurol, 2010, 43:61⁃64. Huang XJ, Cao L, Chen SD. Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2013, 13:457⁃462. [黄啸君, 曹立, 陈生弟. 发作性动作诱发性运动障 碍临床表现及遗传学研究进展. 中国现代神经疾病杂志, [22] 2013, 13:457⁃462.] Wang JD, Bi GR, Cong SY, Zheng DM, Xu FF. Four cases of paroxysmal kinesigenic dyskinesia. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2009, 9:309 ⁃310. [王建东, 毕国荣, 丛树 艳, 郑东明, 徐菲菲. 发作性运动诱发舞蹈手足徐动症四例. 中国现代神经疾病杂志, 2009, 9:309⁃310.] (收稿日期:2017⁃06⁃20) [23]
{"title":"Intraspinal enterogenous cyst","authors":"T. Han","doi":"10.3969/cjcnn.v17i7.1637","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i7.1637","url":null,"abstract":"2017 年 7 月第 17 卷第 7 期 Chin J Contemp Neurol Neurosurg, July 2017, Vol. 17, No. 7 kinesigenic dyskinesias and pseudohypo ⁃parathyroidism type I b. Pediatr Neurol, 2010, 43:61⁃64. Huang XJ, Cao L, Chen SD. Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2013, 13:457⁃462. [黄啸君, 曹立, 陈生弟. 发作性动作诱发性运动障 碍临床表现及遗传学研究进展. 中国现代神经疾病杂志, [22] 2013, 13:457⁃462.] Wang JD, Bi GR, Cong SY, Zheng DM, Xu FF. Four cases of paroxysmal kinesigenic dyskinesia. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2009, 9:309 ⁃310. [王建东, 毕国荣, 丛树 艳, 郑东明, 徐菲菲. 发作性运动诱发舞蹈手足徐动症四例. 中国现代神经疾病杂志, 2009, 9:309⁃310.] (收稿日期:2017⁃06⁃20) [23]","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"512"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43974152","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}
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