Study on Genotypes and Phenotypes of Neurodegenerative Diseases

Dear Colleagues,

Genetic factors are key players in the pathogenesis of several neurodegenerative diseases, acting both as monogenic causes in inherited forms and modulatory factors in multifactorial/sporadic diseases. With the recent advances in cost-effective genetic analyses, the knolwledge of genetic bases of several neurodegenerative disorders has made great strides, improving the understanding of mechanisms underpinning the pathogenesis of these conditions.

Neurodegenerative diseases display a certain degree of genetic heterogeneity; in other words, the presentation and severity of disease may vary from individual to individual. In some cases, the same phenotype can be determined by different variants in different genes. On the other hand, the same mutation may be associated with phenotypic heterogeneity, also in the same family. However, in some cases, a specific variant may be related to a uniform phenotype, proving helpful for diagnostic and prognostic aims. In the precision medicine era, a better characterization of genotype–phenotype correlations may allow to improve the therapeutic approaches, evaluating the individual drug response and guiding gene-focused clinical trials.

This Special Issue aims to provide an updated overview of the “Study on Genotypes and Phenotypes of Neurodegenerative Diseases”. Contributions related but not limited to Alzheimer's disease and other dementias, Parkinson's disease, and motor neurone diseases  are welcomed, including original research articles and full and mini-reviews.

Dr. Claudia Ricci
Guest Editor

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