Abstract
Cerebrovascular disorders are underlain by perturbations in cerebral blood flow and abnormalities in blood vessel structure. Here, we provide an overview of the current knowledge of select cerebrovascular disorders that are associated with genetic lesions and connect genomic findings with analyses aiming to elucidate the cellular and molecular mechanisms of disease pathogenesis. We argue that a mechanistic understanding of genetic (familial) forms of cerebrovascular disease is a prerequisite for the development of rational therapeutic approaches, and has wider implications for treatment of sporadic (non-familial) forms, which are usually more common.
Keywords:
Cerebrovascular disease; Genetics; Hemorrhagic cerebrovascular disease; Model organisms; Small vessel disease.
MeSH terms
-
Adenosine Triphosphatases / genetics
-
Amyloid beta-Protein Precursor / genetics
-
CADASIL / genetics
-
CADASIL / pathology
-
Cerebral Amyloid Angiopathy / genetics
-
Cerebral Amyloid Angiopathy / pathology
-
Cerebral Small Vessel Diseases / genetics
-
Cerebral Small Vessel Diseases / pathology
-
Cerebrovascular Disorders / diagnostic imaging
-
Cerebrovascular Disorders / genetics*
-
Cerebrovascular Disorders / pathology*
-
Humans
-
Moyamoya Disease / diagnostic imaging
-
Moyamoya Disease / genetics
-
Moyamoya Disease / pathology
-
Receptor, Notch3 / genetics
-
SOXF Transcription Factors / genetics
-
Ubiquitin-Protein Ligases / genetics
Substances
-
Amyloid beta-Protein Precursor
-
Receptor, Notch3
-
SOX17 protein, human
-
SOXF Transcription Factors
-
RNF213 protein, human
-
Ubiquitin-Protein Ligases
-
Adenosine Triphosphatases