Advances in the Molecular Genetics of Neurological Disorders

Dear Colleagues,

Recent decades have seen an increase in the study of the molecular genetic basis of neurological diseases, with recent advances in the techniques and strategies involving genetic markers in neurodegenerative as well as mendelian neurogenetic diseases.

Many neurological diseases have an important genetic basis, either as risk-determining alleles or causative Mendelian variants, and over one-third of Mendelian genetic diseases present phenotypes with significant neurological manifestations. Greater knowledge of the genes and genetic variants involved in neurogenetic diseases makes the development of new treatment strategies for this group of diseases more feasible. Of note, recent advances in gene therapy provide hope for more effective treatments for some of these diseases. The description of neurological phenotypes and the reporting of novel variants also make new diagnostic strategies for these diseases, as well as better genetic counseling, possible. Greater knowledge of the molecular genetic basis of non-mendelian neurodegenerative diseases, such as Parkinson´s disease and Alzheimer’s disease, allow for the development of prognostic tools and possibly of new treatment strategies. This Special Issue aims to highlight recent Advances in the Molecular Genetics of Neurological Disorders, focusing on diagnosis, prognosis and treatment approaches. 

We invite original works as well as review papers on the following areas:

• Characterization of phenotypes in neurogenetic diseases through case series, natural history studies or review papers;
• Molecular genetics strategies for diagnosis, prognosis or treatment of neurodegenerative diseases;
• Describe novel pathogenic variants with characteristic findings;
• Diagnostic or treatment strategies for neurogenetic diseases.

Dr. Pedro Braga-Neto
Dr. Paulo Ribeiro Nóbrega
Guest Editors

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. Brain Sciences is an international peer-reviewed open access monthly 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 2200 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.

• neurogenetic disorders
• Parkinson’s disease
• Alzheimer's disease
• neurodegenerative diseases