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Special Issue "Genetics of Neurodegenerative Diseases 2.0"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 30 April 2020.

Special Issue Editors

Dr. Cristoforo Comi
E-Mail Website
Guest Editor
Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale, 28100 Novara, Italy
Interests: neurodegenerative diseases including Parkinson's disease, Huntington disease, other movement disorders, Alzheimer's disease; neuroimmune diseases including: multiple sclerosis, inflammatory neuropathies, myasthenia gravis
Special Issues and Collections in MDPI journals
Dr. Alessio Di Fonzo
E-Mail Website
Co-Guest Editor
IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
Interests: neurodegenerative disease; neurogenetics; Parkinson’s disease
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Genetic susceptibility to neurodegenerative disease has been the object of a large body of research in the last twenty years. Important results both in monogenic heritable diseases and in complex, sporadic disorders have been reached. By contrast, only a few studies have addressed the role of disease-modifying genes and/or pharmacogenomic aspects. This might be related to the difficulty in collecting data on disease evolution and response to treatment compared to recording disease development. To fill this gap, large collaborative studies aimed at tracking disease evolution are ongoing, and results are likely to provide insightful information on the determinants of progression.

Variations in glucocerebrosidase (GBA), leucine-rich repeat kinase 2 (LRRK2), and alpha-synuclein (SNCA) genes, just to name a few, have already been associated to specific features of Parkinson’s disease (PD), and an effort was recently made to classify PD subtypes in order to better clarify genotype/phenotype correlations. Furthermore, single nucleotide polymorphisms (SNPs) in receptor genes have been associated to development of PD complications. Furthermore, research performed in Alzheimer’s disease (AD) showed that variations in serine racemase (SRR) or in 3-Hydroxy-3-Methylglutaryl-CoA reductase (HMGCR) genes can influence disease progression.

Taken altogether, these findings depict a landscape in which individual genetic profiling will be increasingly relevant in a clinical context, with implications for patient care in line with the proposed ideal of personalized medicine.

On this background, the aim of this Special Issue of the International Journal of Molecular Sciences is to attract high-quality studies covering the relationship between gene variations and clinical features of neurodegenerative diseases. Contributors are encouraged to submit articles describing novel results, models, viewpoints, perspectives, and/or methodological innovations. We will strive to ensure that the articles of the Special Issue collectively present a cohesive picture of the state-of-the-art in the field and help to advance our understanding and management of neurodegenerative diseases.

The topics we wish to cover include but are not limited to:

  • Genetic determinants of faster neurodegenerative disease evolution;
  • Genetic predisposition to motor and nonmotor complications in PD;
  • The role of genetic background in treatment response in neurodegenerative disease;
  • The genetic background of Parkinson’s disease dementia and Lewy body dementia;
  • Genotype/phenotype correlations in atypical Parkinsonian syndromes.

Dr. Cristoforo Comi
Dr. Alessio Di Fonzo
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 papers will be 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. 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.

Published Papers

This special issue is now open for submission, see below for planned papers.

Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC data set

Dr. Daniah Trabzuni


Title: Flavin adenine dinucleotide extends lifespan and protects against Alzheimer’s amyloid-beta toxicity in C. elegans

Dr. Patrick Bradshaw


Title: RNA Expression Profiling in Lymphoblastoid Cell Lines from Mutated and Non-Mutated Amyotrophic Lateral Sclerosis Patients

Dr. Stella Gagliardi


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