New Insights in Prion Diseases

Dear Colleagues,

Prion diseases are fatal neurodegenerative diseases, associated with the abnormal folding and aggregation of prion protein. Prion diseases present diverse phenotypes, including Creutzfeldt–Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann–Sträussler–Scheinker (GSS), and kuru, but they may also present atypical disease forms (Alzheimer’s-like or Parkinson’s-like phenotypes). Approximately 10–15% of prion diseases could be associated with genetic mutations in the prion (PRNP) gene. However, patients with the same mutation may present diverse clinical phenotype. In addition to M129V and E219K, emerging studies are available on possible genetic disease modifiers in case of prion mutations. Genome-wide-association and whole-genome/exome sequencing studies have identified potential candidates which may increase the risk for sporadic prion disease, such as RARB or STMN2. Currently, no therapies or treatments are available for prion disease. Studies are ongoing to develop drugs, which could be based on immunization, neuroprotection, or the prevention of PrP^c to Prp^Sc conversion.

This Special Issue, “New Insights in Prion Diseases”, deals with various aspects of prion disease diagnosis and therapy. We are accepting review and original research articles, but case reports and short communications are also welcome. The scope of this Issue includes but is not limited to: 

1. Prion diseases diagnosis; typical or atypical cases of prion diseases.
2. Genetics of prion diseases, possible disease-modifying factors in case of prion mutation, genetic risk factors in the absence of PRNP mutation.
3. Possible therapeutic strategies and neuroprotective factors in prion diseases.
4. Pathological overlap between prion diseases and other neurodegenerative diseases.

This Special Issue will be of interest to clinicians and basic researchers working in neurodegenerative disease.

Dr. Eva Bagyinszky
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.