Genetic factors play a key role in the pathogenesis of several neurodegenerative disorders, both as monogenic causes of inheritable disease forms and as modifiers of susceptibility to sporadic phenotypes.
Over the last two decades tremendous advances have been made in the identification of the genetic underpinnings of multiple neurodegenerative conditions, and the development of this research area is paving the way for improved disease modeling strategies and targeted therapeutics emergence.
With the growing diffusion of gene-focused clinical trials it is imperative to better characterize genotype-phenotype correlations and deepen our understanding of the underlying pathological mechanisms.
In this context, neuroimaging provides a particularly promising tool to investigate the neurobiological processes mediating genotype-phenotype associations.
Different imaging modalities are providing complementary information on many involved mechanisms, including regional vulnerability to atrophy, microstructural damage propagation and functional activity alterations. Of note, recent studies further suggest that these changes are detectable even in the asymptomatic/presymptomatic disease phases, opening unprecedented possibilities for unravelling compensatory mechanisms and developing preventive therapeutic strategies.
The goal of this Research Topic is to give an overview of recent clinical and neuroimaging studies focusing on the complex interplay between distinct genotypes and the resulting spectrum of phenotypic expressions across motor and cognitive neurodegenerative diseases, including but not limited to:
a) Clinical studies of familial and sporadic genetic disease forms
b) Studies in asymptomatic/presymptomatic mutation carriers
c) Common and unique clinical and neuroimaging signatures across genetic disease forms
d) Novel applied methodologies for early identification and differentiation between genetic variants
e) Directions for future development
We welcome submissions of Perspectives, Original Research, Systematic Reviews, Mini Reviews, Brief Research Reports, Case Reports and General Commentaries.
Genetic factors play a key role in the pathogenesis of several neurodegenerative disorders, both as monogenic causes of inheritable disease forms and as modifiers of susceptibility to sporadic phenotypes.
Over the last two decades tremendous advances have been made in the identification of the genetic underpinnings of multiple neurodegenerative conditions, and the development of this research area is paving the way for improved disease modeling strategies and targeted therapeutics emergence.
With the growing diffusion of gene-focused clinical trials it is imperative to better characterize genotype-phenotype correlations and deepen our understanding of the underlying pathological mechanisms.
In this context, neuroimaging provides a particularly promising tool to investigate the neurobiological processes mediating genotype-phenotype associations.
Different imaging modalities are providing complementary information on many involved mechanisms, including regional vulnerability to atrophy, microstructural damage propagation and functional activity alterations. Of note, recent studies further suggest that these changes are detectable even in the asymptomatic/presymptomatic disease phases, opening unprecedented possibilities for unravelling compensatory mechanisms and developing preventive therapeutic strategies.
The goal of this Research Topic is to give an overview of recent clinical and neuroimaging studies focusing on the complex interplay between distinct genotypes and the resulting spectrum of phenotypic expressions across motor and cognitive neurodegenerative diseases, including but not limited to:
a) Clinical studies of familial and sporadic genetic disease forms
b) Studies in asymptomatic/presymptomatic mutation carriers
c) Common and unique clinical and neuroimaging signatures across genetic disease forms
d) Novel applied methodologies for early identification and differentiation between genetic variants
e) Directions for future development
We welcome submissions of Perspectives, Original Research, Systematic Reviews, Mini Reviews, Brief Research Reports, Case Reports and General Commentaries.
