Table 1.

General Organization and Clinical Characteristics for Genetic Cerebral Arteriopathies

Clinical characteristics					Diagnostic consideration
Noninflammatory CSF	Aortopathy	Cerebral aneurysms more prominent	Renal cysts or renal failure		ADPKD
			Cerebral AVMs, characteristic 'velvet’ skin		vEDS
			Bifid uvula		Loeys-Dietz
		Cerebral aneurysms less prominent	Moyamoya phenomenon		MYH11-related or ACTA2-related disorders
			Marfanoid appearance, ectopia lentis		Marfan syndrome
			Prominent arterial tortuosity		SLC2A10 arterial tortuosity syndrome
	No aortopathy	Cerebral small vessel disease	Claudication, peripheral neuropathy, painful crises	Nephropathy	Fabry disease
				Sagging skin, hyperpigmentation	Pseudoxanthoma elasticum
			No claudication, peripheral neuropathy, painful crises	Cognitive changes, headaches, mood disorder	CADASIL
				Cognitive changes, resistant hypertension, cerebral hemorrhage, migraines	CARASAL
				Spastic diplegia, alopecia	CARASIL
				Pontine predominance	PADMAL
				Livedo reticularis	Deficiency of ADA2
		Minimal cerebral small vessel disease or prominent intracerebral hemorrhage	Cerebral AVMs	Prominent telangiectasias	HHT
				Hemorrhage, migraines	COL4A1-related disorders
			Moyamoya phenomenon	Skin findings, optic glioma	NF1
				Systemic findings (splenic infarcts, sickle cell, Down syndrome), radiation vasculopathy, progressive intracranial atherosclerosis)	Secondary moyamoya
				Primary Moyamoya	RNF213-related disorder
			Neither cerebral AVMs nor moyamoya phenomenon	Prominent pial angiomas	Sturge-Weber
				Aneurysms, muscular weakness	Pompe disease
				Hemorrhage, dementia	Hereditary cerebral amyloid angiopathy
Inflammatory CSF	Leukoencephalopathy, retinal vasculitis, nephropathy				TREX1-related RVCL
	Encephalopathy, seizures, young age				Aicardi-Goutières

Abbreviations: ADPKD = autosomal dominant polycystic kidney disease; AVM = arteriovenous malformation; CADASIL = cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL = cathepsin A–related arteriopathy with strokes and leukoencephalopathy; CARASIL = cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; HHT = hereditary hemorrhagic telangiectasia; NF1 = neurofibromatosis type 1; PADMAL = pontine autosomal dominant microangiopathy and leukoencephalopathy; vEDS = vascular Ehlers-Danlos disease.