Wilson Disease and Other Neurodegenerations with Metal Accumulations
作者： Petr Dusek , Tomasz Litwin , Anna Czlonkowska
DOI: 10.1016/J.NCL.2014.09.006
关键词: Pathology 、 Homeostasis 、 Biochemistry 、 Neurodegeneration with brain iron accumulation 、 Globus pallidus 、 Calcium 、 Aceruloplasminemia 、 Endogeny 、 Manganism 、 Cellular homeostasis 、 Medicine
摘要: Trace elements, such as iron, copper, manganese, and calcium, which are essential constituents necessary for cellular homeostasis, become toxic when present in excess quantities. In this article, we describe disorders arising from endogenous dysregulation of metal homeostasis leading to their tissue accumulation. Although subgroups these diseases lead regional brain accumulation, mostly globus pallidus, is susceptible accumulate divalent ions, other cause systemic accumulation affecting the whole brain, liver, parenchymal organs. The latter group comprises Wilson disease, manganese transporter deficiency, aceruloplasminemia responds favorably chelation treatment.
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