Table 1.

Monogenic forms of CMA

Disease	Locus	Gene	Protein	Mode of inheritance	Clinical manifestations	MRI findings	Morphological changes in the vascular wall
CADASIL	19q12	NOTCH3	NOTCH3 receptor	Autosomal dominant	Migraine with aura, lacunar strokes, cognitive impairments/ dementia, mental disorders	WMH in the temporal lobe poles and external capsules, subcortical LIs	Accumulation of osmiophilic deposits
CARASIL	10q25	HTRA1	HtrA, serine peptidase 1	Autosomal recessive	Cognitive disorders, lacunar strokes, alopecia, low back pain	Subcortical LIs	Extensive smooth muscle cell degeneration
COL4A1	13q34	COL4A1	α1-collagen type IV	Autosomal dominant	Porencephaly, infantile cerebral palsies, Axenfeld-Rieger anomaly, nephropathy, cramps, cataract, retinal hemorrhages	WMH, LI, subcortical microhemorrhages	Basement membrane damage
RVCL	3p21	TREX1	DNase III with 3’-5’-exo- nuclease activity	Autosomal dominant	Retinal vasculopathy, migraine, cognitive impairments, mental disorders, Raynaud’s phenomenon, hepatic cirrhosis, nephropathy, osteonecrosis	Subcortical LIs, WMH	Basement membrane damage
Fabry disease	Xq22	GLA	α-galactosi- dase A	X-linked	Angiokeratomas, acroparesthesias, damage to the kidneys and heart, changes in the facial skull	WMH and LI in the vertebral-basilar system, dolichoectasia of the main artery	Accumulation of lysosomal deposits in endothelial and smooth muscle cells