Table 1.

Clinical and imaging features of genetic cerebral small vessel disease in our cohort

Clinical features of genetic cerebral small vessel disease
Ischaemic stroke or TIA	CADASIL, CADASIL2, PADMAL
Haemorrhagic stroke	COL4A1/2-related disorders, CADASIL
Migraine	CADASIL
Spondylosis deformans	CADASIL2
Paroxysmal muscle spasm	HANAC
Neuropathic pain	Fabry disease
Angiokeratoma	Fabry disease
Renal involvement	COL4A1/2-related disorders, Fabry disease, RVCL-S
Eye involvement	COL4A1/2-related disorders, RVCL-S
Imaging features of genetic cerebral small vessel disease
Anterior temporal lobe signal abnormality	CADASIL, CADASIL2
External capsule signal abnormality	CADASIL, CADASIL2
Lacunar infarctions	CADASIL, CADASIL2
Cerebral microbleeds	CAA, COL4A1/2-related disorders, CADASIL, CADASIL2
Recurrent brainstem infarctions	PADMAL
Pseudotumor sign	RVCL-S

CAA = cerebral amyloid angiopathy; HANAC = hereditary angiopathy with nephropathy, aneurysms, and muscle cramps; PADMAL = pontine autosomal dominant microangiopathy and leukoencephalopathy; RVCL-S = autosomal dominant retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; TIA = transient ischaemic attacks.