About this Research Topic
Hereditary cerebral small vessel diseases (hSVD) account for 1 to 5% of strokes, and this prevalence is likely even higher in young-onset stroke patients. Beyond stroke manifestations, hSVD can lead to cognitive decline, mood disturbances, and motor disability. Currently, a dozen of hSVD have been identified, with the most common being CADASIL. However, approximately 85% of suspected monogenic hSVD cases remain unidentified. Recent findings indicate that genetic mutations involved in some hSVD are much more frequent than initially suspected, affecting millions of individuals worldwide. The clinical and imaging presentation of hSVD is highly heterogeneous, and the phenotypic spectrum is broad, ranging from early-onset strokes to very mild, late-onset phenotypes. The penetrance of hSVD also appears highly variable. Accumulating data suggest that environmental and genetic modifiers, which are yet to be identified, play an important role in disease expression. The progressive unraveling of key pathophysiological mechanisms is paving the way for the emergence of disease-modifying therapies, that are currently in pre-clinical development for some hSVD.
The current challenge in hSVD research is not only to unravel the pathomechanisms but also to improve our knowledge about the clinical spectrum, penetrance, and modifying factors involved. These issues are crucial for genetic diagnosis, patient care, genetic counseling, and therapeutic development. The goal of this Research Topic is to communicate the latest insights into the clinical spectrum of hSVD and the environmental and genetic modifiers involved, as well as to improve our knowledge concerning their pathophysiology.
In this Research Topic, we aim to give a state-of-the-art overview of the latest insights into hSVD, with a focus on the clinical spectrum, pathomechanisms, determinants of disease variability including genotype-phenotype correlations, and potential environmental or genetic modifiers. Research articles, review articles, method reports, case reports, and series are welcome. GWAS studies aiming to identify genetic risk factors for sporadic cSVD are outside the scope of this topic.
The current challenge in hSVD research is not only to unravel the pathomechanisms but also to improve our knowledge about the clinical spectrum, penetrance, and modifying factors involved. These issues are crucial for genetic diagnosis, patient care, genetic counseling, and therapeutic development. The goal of this Research Topic is to communicate the latest insights into the clinical spectrum of hSVD and the environmental and genetic modifiers involved, as well as to improve our knowledge concerning their pathophysiology.
In this Research Topic, we aim to give a state-of-the-art overview of the latest insights into hSVD, with a focus on the clinical spectrum, pathomechanisms, determinants of disease variability including genotype-phenotype correlations, and potential environmental or genetic modifiers. Research articles, review articles, method reports, case reports, and series are welcome. GWAS studies aiming to identify genetic risk factors for sporadic cSVD are outside the scope of this topic.
Keywords: genotype-phenotype correlations, Mendelian cSVDs, stroke, small vessel diseases, genetics, broadened clinical spectrum
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