Neurological Manifestations of Wilson's Disease: Pathophysiology and Localization of Each Component.
Neurological Manifestations of Wilson's Disease: Pathophysiology and Localization of Each Component.
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威尔逊氏病的神经系统表现：每个成分的病理生理和定位。
DOI：
10.7759/cureus.11509
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发表时间：
2020-11-16
期刊：
影响因子：
--
通讯作者：
Niño M
中科院分区：
文献类型：
--
作者：
Ortiz JF;Morillo Cox Á;Tambo W;Eskander N;Wirth M;Valdez M;Niño M
威尔逊氏病（WD）是一种常染色体隐性遗传病，主要表现为肝脏、神经系统和精神疾病。神经系统的表现在过去已经被描述过。然而，这些表现的病理生理学和临床相关性尚未在医学文献中详细描述。我们的目的是巩固有关WD的神经学表现的知识，并提出疾病的每一个神经学表现的病理生理学。我们将给出一个简短的定义，来源，和病理生理的神经条件。我们使用常规关键词和医学主题标题从国家医学图书馆（PubMed）收集数据。根据以下纳入/排除标准选择研究：(1)仅使用人类受试者的研究，(2)用英文发表的论文，(3)1990年以后的论文。排除标准为：(1)使用动物的研究，(2)非英文发表的论文，(3)1990年以前发表的论文。其他研究通过PubMed和b谷歌Scholar收录的已识别论文和相关文章的参考文献列表纳入。铜中毒是WD中脑变性的主要因素。帕金森病与黑质纹状体多巴胺能缺陷有关。静息性震颤可能与帕金森病具有相同的病理生理机制。活动性震颤与小脑蚓部和大脑半球铜的积累有关。同时，特发性震颤可以解释为齿状核的影响。舞蹈病是由于直接通路的活性增加而产生的。我们没有发现与构音障碍相关的病理生理学。我们假设大脑的多个部分都参与了这个问题。壳核损伤是WD伴白球肌张力障碍的主要原因。我们没有发现WD中癫痫发作的具体定位，但病理似乎与B6水平下降和铜对大脑的直接毒性有关。
Wilson’s disease (WD) is an autosomal recessive disease that presents mainly with hepatic, neurological, and psychiatric manifestations. Neurological manifestations have been described in the past. Nevertheless, the pathophysiology and the clinical relevance of these manifestations have not been described in great detail in the medical literature. We aim to consolidate the knowledge about the neurological manifestations of WD and present the pathophysiology of each neurological manifestation of the disease. We will give a brief definition, the provenance, and the pathophysiology of the neurological conditions. We collected data from the National Library of Medicine (PubMed) using regular keywords and medical subject headings. Studies were selected applying the following inclusion/exclusion criteria: (1) studies that used exclusively human subjects, (2) papers published in English, and (3) papers from 1990 onward. The exclusion criteria were (1) studies that used animals, (2) papers not published in English, and (3) papers published before 1990. Additional studies were included via reference lists of identified papers and related articles featured in PubMed and Google Scholar. Copper toxicity is the principal factor for brain degeneration seen in WD. Parkinsonism seen in WD has been associated with a nigrostriatal dopaminergic deficit. Resting tremor may have the same pathophysiology as parkinsonism. Action tremor is related to an accumulation of copper in the cerebellum's vermis and hemispheres. At the same time, essential tremor can be explained due to affection of the dentate nucleus. Choreoathetosis is produced due to increased activity of the direct pathway. We did not find specifically associated pathophysiology related to dysarthria. We assume that multiple parts of the brain are involved in that problem. Putamen nucleus damage is the leading cause that explains dystonia seen in WD along with the globus palidus. We did not find a specific localization for seizures in WD, but the pathology seems to be related to decreased levels of B6 and direct toxicity of copper on the brain.
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