Literature DB >> 25432729

Wilson disease and other neurodegenerations with metal accumulations.

Petr Dusek1, Tomasz Litwin2, Anna Czlonkowska3.   

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.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Chelating therapy; Manganism; NBIA; Neurodegeneration with brain iron accumulation; Primary familial brain calcification; Wilson disease

Mesh:

Substances:

Year:  2015        PMID: 25432729     DOI: 10.1016/j.ncl.2014.09.006

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  18 in total

1.  Wilson disease tissue classification and characterization using seven artificial intelligence models embedded with 3D optimization paradigm on a weak training brain magnetic resonance imaging datasets: a supercomputer application.

Authors:  Mohit Agarwal; Luca Saba; Suneet K Gupta; Amer M Johri; Narendra N Khanna; Sophie Mavrogeni; John R Laird; Gyan Pareek; Martin Miner; Petros P Sfikakis; Athanasios Protogerou; Aditya M Sharma; Vijay Viswanathan; George D Kitas; Andrew Nicolaides; Jasjit S Suri
Journal:  Med Biol Eng Comput       Date:  2021-02-05       Impact factor: 2.602

Review 2.  Wilson disease.

Authors:  Anna Członkowska; Tomasz Litwin; Petr Dusek; Peter Ferenci; Svetlana Lutsenko; Valentina Medici; Janusz K Rybakowski; Karl Heinz Weiss; Michael L Schilsky
Journal:  Nat Rev Dis Primers       Date:  2018-09-06       Impact factor: 52.329

3.  Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation.

Authors:  Ghazal Haeri; Fahimeh Haji Akhoundi; Afagh Alavi; Siamak Abdi; Mohammad Rohani
Journal:  Mov Disord Clin Pract       Date:  2020-06-24

4.  Undulating Tongue Revealing Wilson's Disease.

Authors:  Hicham El Otmani; Tarik Benhsain; Zaynab Abdulhakeem; Bouchra El Moutawakil; Mohammed Abdoh Rafai
Journal:  Mov Disord Clin Pract       Date:  2019-07-11

5.  MR Imaging of the Brain in Neurologic Wilson Disease.

Authors:  X-E Yu; S Gao; R-M Yang; Y-Z Han
Journal:  AJNR Am J Neuroradiol       Date:  2019-01       Impact factor: 3.825

6.  Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China.

Authors:  Minling Yu; Linxiang Ren; Muxin Zheng; Mingfan Hong; Zhisheng Wei
Journal:  Front Neurol       Date:  2022-07-05       Impact factor: 4.086

7.  Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.

Authors:  Stephanie A Zlatic; Alysia Vrailas-Mortimer; Avanti Gokhale; Lucas J Carey; Elizabeth Scott; Reid Burch; Morgan M McCall; Samantha Rudin-Rush; John Bowen Davis; Cortnie Hartwig; Erica Werner; Lian Li; Michael Petris; Victor Faundez
Journal:  Cell Syst       Date:  2018-01-31       Impact factor: 10.304

8.  Optical coherence tomography and electrophysiology of retinal and visual pathways in Wilson's disease.

Authors:  Ewa Langwińska-Wośko; Tomasz Litwin; Kamil Szulborski; Anna Członkowska
Journal:  Metab Brain Dis       Date:  2015-12-21       Impact factor: 3.584

9.  Optical coherence tomography as a marker of neurodegeneration in patients with Wilson's disease.

Authors:  Ewa Langwińska-Wośko; Tomasz Litwin; Karolina Dzieżyc; Michał Karlinski; Anna Członkowska
Journal:  Acta Neurol Belg       Date:  2017-05-09       Impact factor: 2.396

10.  The sunflower cataract in Wilson's disease: pathognomonic sign or rare finding?

Authors:  Ewa Langwińska-Wośko; Tomasz Litwin; Karolina Dzieżyc; Anna Członkowska
Journal:  Acta Neurol Belg       Date:  2015-11-17       Impact factor: 2.396

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