The Contribution of Neurogenetics in Disentangling the Pathophysiology of Neurodegenerative Diseases

Dear Colleagues,

Neurodegenerative diseases represent an increasingly pressing global health challenge, especially in middle- and high-income countries, significantly contributing to the increase in mortality rates and the burden of Disability-Adjusted Life Years (DALYs). The ‘undoing’ present at the level of neuronal networks and on neurons, as well as the accumulation of protein aggregates, are crucial factors that have been recognized, to date, as the primary causes of cognitive, sensory, and motor dysfunction. Therefore, while waiting for disease-modifying drugs to be available, the possibility to quickly detect, promptly manage, and reliably monitor neurodegenerative diseases is of pivotal importance to prevent complication, maintain functional independence, and ensure an adequate quality of life. The identification of a prodromal phase in some of these disorders offers a valuable “window of opportunity” for making a powerful impact on disease onset and progression. To effectively address this challenge, an approach that recognizes neurodegeneration as an inherently cellular and molecular process is essential. In this complex scenario, translational neurogenetics emerges as the key discipline to achieve our goals by integrating genetic discoveries with clinical practice. For these reasons, we propose this Special Issue with the aim to compile high-quality original papers and comprehensive reviews of the literature that will make a significant and innovative contribution to the understanding and treatment of neurodegenerative diseases through the “looking glass” of neurogenetics. Translationally, this will positively transform the landscape of these diseases, which negatively affect the lives of millions of people, through a better understanding of their pathogenic bases and pathophysiological mechanisms.

Prof. Dr. Giuseppe Lanza
Dr. Michele Salemi
Dr. Francesca Schillaci
Guest Editors

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