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Principles and Practice of Movement Disorders最新文献

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Tremors 震动
Pub Date : 2022-08-01 DOI: 10.1891/9781617051937.0002
Josef Jankovič, M. Hallett, M. Okun, C. Comella, Stanley Fahn, Jennifer Goldman
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引用次数: 0
Myoclonus 肌阵挛
Pub Date : 2021-08-01 DOI: 10.1016/b978-0-323-31071-0.00018-4
Josef Jankovič, M. Hallett, Michael S. Okun, Cynthia Comella, Stanley Fahn, Jennifer Goldman
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引用次数: 0
Ataxia
Pub Date : 2020-02-07 DOI: 10.32388/uen3p8
Josef Jankovič, M. Hallett, M. Okun, C. Comella, Stanley Fahn, Jennifer Goldman
He was diagnosed with Parkinson disease (Hoehn and Yahr grade 2) and administered levodopa at the maximum dose of 800 mg. However, his condition did not improve. While his symptoms were responsive to levodopa therapy, the sensitivity to the drug was poor. Brain MRI revealed atrophy of the upper vermis and cerebral hemispheres, and brain SPECT revealed low perfusion in both parietal lobes. I 123 -metaiodobenzylguanidine scintigraphy showed a decrease in the heart/mediastinum ratio. Striatal dopamine transporter (DAT) density was evaluated using I 123 -FP-CIT. The patient showed moderately reduced DAT density, which suggested nigrostriatal dopaminergic damage. His mother was found to have pure cerebellar ataxia without parkinsonism, and her two siblings also had celebellar type of multiple system atrophy (MSA-C) and progressive supranuclear palsy, respectively. Genetic testing revealed that the patient, his mother and the uncle with MSA-C had spinocerebellar ataxia type 6 (SCA6). SCA6 presenting parkinsonism without ataxia is very rare and important for the pathomechanism of disease.
他被诊断为帕金森病(Hoehn和Yahr 2级),并给予最大剂量800毫克的左旋多巴。然而,他的病情并没有好转。虽然他的症状对左旋多巴治疗有反应,但对药物的敏感性很差。脑MRI显示上蚓部和大脑半球萎缩,脑SPECT显示双顶叶低灌注。123 -甲氧十二苄基胍显像显示心脏/纵隔比值降低。采用i123 -FP-CIT检测纹状体多巴胺转运体(DAT)密度。患者显示中度降低的DAT密度,提示黑质纹状体多巴胺能损伤。其母亲为单纯小脑性共济失调,无帕金森病,其两个兄弟姐妹也分别患有小脑型多系统萎缩(MSA-C)和进行性核上性麻痹。基因检测显示,患者及其母亲和患有MSA-C的叔叔患有脊髓小脑性共济失调6型(SCA6)。SCA6表现为无共济失调的帕金森病是非常罕见的,对疾病的病理机制具有重要意义。
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引用次数: 0
Parkinsonism 帕金森症
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00004-4
Josef Jankovič, M. Hallett, M. Okun, C. Comella, Stanley Fahn, Jennifer Goldman
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引用次数: 0
Atypical parkinsonism, parkinsonism-plus syndromes and secondary parkinsonian disorders 非典型帕金森氏症,帕金森氏综合征和继发性帕金森氏病
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00009-3
J. Jankovic, M. Hallett, M. Okun, C. Comella, S. Fahn, J. Goldman
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引用次数: 1
Tics and Tourette syndrome 抽动症和抽动症
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00015-9
J. Jankovic, M. Hallett, M. Okun, C. Comella, S. Fahn, Jennifer Goldman
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引用次数: 0
Gait disorders 步态障碍
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00019-6
J. Jankovic, M. Hallett, M. Okun, C. Comella, S. Fahn, Jennifer Goldman
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引用次数: 0
Peripheral movement disorders 外周运动障碍
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00026-3
J. Jankovic, M. Hallett, M. Okun, C. Comella, S. Fahn, J. Goldman
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引用次数: 3
Autoimmune movement disorders 自身免疫运动障碍
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00023-8
J. Jankovic, M. Hallett, M. Okun, C. Comella, S. Fahn, J. Goldman
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引用次数: 0
Stiffness syndromes 刚度综合症
Pub Date : 1900-01-01 DOI: 10.1016/b978-0-323-31071-0.00021-4
J. Jankovic, M. Hallett, M. Okun, C. Comella, S. Fahn, Jennifer Goldman
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引用次数: 0
期刊
Principles and Practice of Movement Disorders
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