亨廷顿舞蹈病的临床特征(附4家系报道)
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摘要
目的探讨亨廷顿舞蹈病(HD)的临床特征。方法回顾性分析4个HD家系的临床资料。结果本研究4个家系经基因检测确定4例HD患者,3例症状前患者。HD患者主要临床表现为肢体舞蹈样动作、认知下降及精神异常,其次为构音障碍、吞咽困难。眼球运动异常、肢体疼痛、抽搐、肌张力障碍等可能为其少见的临床表现。结论 HD患者除具有典型三联症外,可伴有眼球运动异常、肢体疼痛、肌张力障碍等少见症状。明确诊断仍需基因检测。
Objective To investigate the clinical features of Huntington's disease( HD). Methods The clinical data of 4 HD families were retrospectively analyzed. Results In the 4 HD families,4 HD patients and 3 presymptomatic HD patients were diagnosed by gene detection. The main clinical manifestations of HD patients were chorea,cognitive decline and mental disorders,secondly for dysarthria and dysphagia. And abnormal eye movement,limb pain,twitching and dystonia were rare clinical manifestations. Conclusions In addition to typical triad,HD patients can be accompanied by unusual symptoms such as abnormal eyeball movement,limb pain and dystonia.Definitive diagnosis is depend on gene detection.
Objective To investigate the clinical features of Huntington's disease( HD). Methods The clinical data of 4 HD families were retrospectively analyzed. Results In the 4 HD families,4 HD patients and 3 presymptomatic HD patients were diagnosed by gene detection. The main clinical manifestations of HD patients were chorea,cognitive decline and mental disorders,secondly for dysarthria and dysphagia. And abnormal eye movement,limb pain,twitching and dystonia were rare clinical manifestations. Conclusions In addition to typical triad,HD patients can be accompanied by unusual symptoms such as abnormal eyeball movement,limb pain and dystonia.Definitive diagnosis is depend on gene detection.
引文
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[16]Novak MJ,Tabrizi SJ.Huntington's disease[J].BMJ,2010,340:e3109.
[17]Ross CA,Aylward EH,Wild EJ,et al.Huntington disease:natural history,biomarkers and prospects for therapeutics[J].Nat Rev Neurol,2014,10:204.
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[20]Paulsen JS,Wang C,Duff K,et al.Challenges assessing clinical endpoints in early Huntington disease[J].Mov Disord,2010,25:2595.
[21]Tabrizi SJ,Langbehn DR,Leavitt BR,et al.Biological and clinical manifestations of Huntington's disease in the longitudinal TRACKHD study:cross-sectional analysis of baseline data[J].Lancet Neurol,2009,8:791.
[22]van Duijn E,Craufurd D,Hubers AA,et al.Neuropsychiatric symptoms in a European Huntington's disease cohort(REGISTRY)[J].J Neurol Neurosurg Psychiatry,2014,85:1411.
[2]Bates GP,Dorsey R,Gusella JF,et al.Huntington disease[J].Nat Rev Dis Primers,2015,5:11.
[3]Bean L,Bayrak-Toydemir P.American college of medical genetics and genomics standards and guidelines for clinical genetics laboratories,2014 edition:technical standards and guidelines for Huntington disease[J].Genet Med,2014,16:1.
[4]Quarrell O,O'donovan KL,Bandmann O,et al.The prevalenceof juvenile huntington's disease:a review of the literature and meta-analysis[J].PLo S Curr,2012,20:4.
[5]Moser AD,Epping E,Espe-Pfeifer P,et al.A survey—based study identifes common but unrecognized symptoms in a large series of juvenile Huntington's disease[J].Neurodegener Dis Manag,2017,7:307.
[6]Quarrell OW,Ma NC,Nopoulos P,et al.Managing juvenile Huntington's disease[J].Neurodegener Dis Manag,2013,3:267.
[7]Baig SS,Strong M,Quarrell OW.The global prevalence of Huntington's disease:a systematic review and discussion[J].Neurodegener Dis Manag,2016,6:331.
[8]Nicolas G,Devys D,Goldenberg A,et al.Juvenile huntington diseasein an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume[J].Am J Med Genet A,2011,155:815.
[9]Novak MJ,Tabrizi SJ.Huntington's disease[J].BMJ,2010,30:340.
[10]Ha AD,Fung VS.Huntington's disease[J].Curr Opin Neurol,2012,25:491.
[11]Xing SH,Chen L,Chen X,et al.Excessive blinking as an initial manifestation of juvenile Huntington's disease[J].Neurol Sci,2008,29:275.
[12]Liu ZJ,Sun YM,Ni W,et al.Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene[J].Clin Genet,2014,85:193.
[13]中华医学会神经病学分会帕金森病及运动障碍学组.亨廷顿病的诊断与治疗指南[J].中华神经科杂志,2011,44:638.
[14]Patel SS,Jankovic J,Hood AJ,et al.Reflexive and volitional saccades:biomarkers of Huntington disease severityand progression[J].J Neurol Sci,2012,313:35.
[15]de Tommaso M,Franco G,Ricci K,et al.Laser evoked potentials in early and presymptomatic Huntington's disease[J].Behav Neurol,2016,2016:8613729.
[16]Novak MJ,Tabrizi SJ.Huntington's disease[J].BMJ,2010,340:e3109.
[17]Ross CA,Aylward EH,Wild EJ,et al.Huntington disease:natural history,biomarkers and prospects for therapeutics[J].Nat Rev Neurol,2014,10:204.
[18]Qi XL,Elworthy AC,Lambert BC,et al.Representation of remembered stimuli and task information in themonkey dorsolateral prefrontal and posterior parietal cortex[J].J Neurophysiol,2015,113:44.
[19]Montoya A,Pelletier M,Menear M,et al.Episodic memory impairment in Huntington's disease:a meta-analysis[J].Neuropsychologia,2006,44:1984.
[20]Paulsen JS,Wang C,Duff K,et al.Challenges assessing clinical endpoints in early Huntington disease[J].Mov Disord,2010,25:2595.
[21]Tabrizi SJ,Langbehn DR,Leavitt BR,et al.Biological and clinical manifestations of Huntington's disease in the longitudinal TRACKHD study:cross-sectional analysis of baseline data[J].Lancet Neurol,2009,8:791.
[22]van Duijn E,Craufurd D,Hubers AA,et al.Neuropsychiatric symptoms in a European Huntington's disease cohort(REGISTRY)[J].J Neurol Neurosurg Psychiatry,2014,85:1411.