Overview of genetic conditions associated with lacunar stroke
| Genetic condition | Genetic characteristics | CNS manifestations | Pathognomic neuroimaging and pathological findings | Associated systemic manifestations |
| CADASIL | NOTCH three gene Autosomal dominant | Migraine, stroke, psychiatric manifestations, and dementia |
Imaging: white matter disease affecting anterior temporal lobes and external capsule Pathology: granular osmiophilic material in arterioles | Myocardial infarction |
| CARASIL | HTRA1 gene Autosomal recessive | Cognitive deficits and lacunar stroke |
Imaging: white matter disease affecting anterior temporal lobes and external capsule Pathology: degeneration of vascular smooth muscle cellacunar stroke and mural extracellular matrix reduction | Alopecia Low back pain |
| COL4A1 | COL4A1 gene Autosomal dominant | Migraine, lacunar stroke, cognitive dysfunction, and intracerebral haemorrhage |
Imaging: evidence of markers of cerebral small vessel disease Pathology: basement membrane defects | Cataracts Renal disease Retinal haemorrhage Porencephaly |
| FD | GLA gene X-lined | Lacunar stroke, intracerebral haemorrhage, cognitive dysfunction |
Imaging: pulvinar sign, arterial dolichoectesia Pathology: lysososmal storage material deposited in endothelial and smooth muscle cellacunar stroke of the vasculature | Corneal opacity Renal failure Cardiac dysfunction Angiokeratoma Acroparasthesia |
| RVCL | TREX1 gene Autosomal dominant | Lacunar stroke, migraine, cognitive dysfunction |
Imaging: white matter disease along with contrast enhancing lesions, calcifications in white matter Pathology: multilaminated basement membranes of the brain and kidney vasculature | Progressive vision loss Renal involvement |
CNS, central nervous system.