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Special Issue "Advances in Wilson's Disease and Other Neurodegenerations with Brain Metal Accumulations"
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 31 August 2023 | Viewed by 3482
Special Issue Editor
Interests: Wilson’s disease; neurodegeneration with brain iron accumulation; stroke, multiple sclerosis; clinical trials
Special Issue Information
Wilson’s disease (WD) is an inherited disorders of copper metabolism with pathological copper accumulation in different tissues with secondary damage to affected organs (mainly liver and brain). The disease is potentially treatable if early diagnosis and correct treatment are given. The current WD diagnosis is based mainly on clinical symptoms, copper metabolism, and genetical analysis. The WD treatment is based on drugs leading to negative copper body balance (chelators or zinc salts), which were discovered in the 50s and 70s of XX century. In recent years, the progress in WD diagnosis and treatment has been observed. Next-generation sequencing improved the genetic analyses, and direct measurement of ATP7B peptides was proposed as a method to identify patients with WD. Studies with PET with copper-64 visualized disturbances copper metabolism in WD patients compared to healthy controls. The new biomarkers as well as clinical and neuroradiological scales for WD were established. Finally, the new treatment modalities including gene therapy were proposed. Furthermore, WD, particularly the neurological form, often needs to be distinguished from other disorders characterized by brain metals accumulation, such as neurodegenerations with brain iron accumulation (NBIA); manganese transporter deficiency (or manganism due to manganeses overexposure) as well as primary familial brain calcifications (or secondary brain calcifications). Also, in these group of disorders, progress in diagnosis as well as in treatment perspectives is observed. The purpose of this Special Issue is to present the new techniques in WD and other disorders with brain metal accumulation diagnosis, treatment, and monitoring possibilities including original studies, case reports (difficult cases) and more current reviews for physicians involved in WD as well as in other brain metal accumulation disorders’ treatment.
Prof. Dr. Tomasz Litwin
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Wilson’s disease
- extrapyramidal disorders
- symptomatic neurological treatment
- liver transplantation
- clinical trials