Special Issue "Genetics of Neurodegenerative Diseases: Focus on Progression and Response to Treatment"
Deadline for manuscript submissions: closed (30 June 2019) | Viewed by 45006
Interests: Parkinson’s Disease; Neurogenetics; Genetic Dystonia; Genetic Ataxia
Interests: neurodegenerative diseases including Parkinson's disease, Huntington disease, other movement disorders, Alzheimer's disease; neuroimmune diseases including: multiple sclerosis, inflammatory neuropathies, myasthenia gravis
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Topical Collection in International Journal of Molecular Sciences: Feature Papers in Molecular Genetics and Genomics
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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
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