title: Wilson disease and other neurodegenerations with metal accumulations.
abstract: 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 of these diseases lead to regional brain metal accumulation, mostly in globus pallidus, which is susceptible to accumulate divalent metal ions, other subgroups cause systemic metal accumulation affecting the whole brain, liver, and other parenchymal organs. The latter group comprises Wilson disease, manganese transporter deficiency, and aceruloplasminemia and responds favorably to chelation treatment.
authors.affiliation: Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, Kateřinská 30, Prague 128 21, Czech Republic; Institute of Neuroradiology, University Medicine Goettingen, Robert-Koch-Street 40, Göttingen 37075, Germany. Electronic address: pdusek@gmail.com.
authors.forename: Petr
authors.initials: P
authors.lastname: Dusek
authors.affiliation: 2nd Department of Neurology, Institute Psychiatry and Neurology, Sobieskiego 9, Warsaw 02-957, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Litwin
authors.affiliation: 2nd Department of Neurology, Institute Psychiatry and Neurology, Sobieskiego 9, Warsaw 02-957, Poland; Department of Experimental and Clinical Pharmacology, Medical University, Banacha 1b, Warsaw 02-097, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Czlonkowska
mesh_terms: D001921:Brain / Q000378:metabolism*; D015913:Chelation Therapy; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D001523:Mental Disorders / Q000209:etiology; D008670:Metals / Q000378:metabolism* / Q000633:toxicity
chemical_list: D008670:Metals
keywords: Chelating therapy; Manganism; NBIA; Neurodegeneration with brain iron accumulation; Primary familial brain calcification; Wilson disease