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Table 1 Characteristics of important inherited cerebral small vessel diseases

From: Is the time ripe for new diagnostic criteria of cognitive impairment due to cerebrovascular disease? Consensus report of the International Congress on Vascular Dementia working group

Disease

Gene

Protein

Onset age

Clinical features

CADASIL

NOTCH3 (autosomal dominant)

Notch3 receptor protein

30–40 years

Progressive dementia, mood disorders, migraine, recurrent subcortical cerebral, infarction On MRI, leucoencephalopathy, mainly in temporal poles

CARASIL

HTRA1 (autosomal recessive)

HTRA1, serine protease

20–30 years

Mood changes, pseudobulbar palsy, mental dysfunction, scalp alopecia in the teen, acute mid-to-lower back pain

Subcortical white matter changes on MRI

Heterozygous autosomal dominant form: later age of onset and absence of typical extraneurological features

COL4A1

COL4A1 (autosomal dominant)

Type IV collagen α1-chain

All ages

Ischemic stroke, intracerebral haemorrhage, retinal arteriolar tortuosity, cataracts, glaucoma, anterior segment dysgenesis of the eye (Axenfeld–Rieger anomaly), muscle cramps, Raynaud phenomena, kidney defects

RVCL

TREX1 (autosomal dominant)

Trex1 DNAse III

30–40 years

Retinal vasculopathy, TIA, strokes, cognitive dysfunction, headaches, personality disorders, Raynaud’s phenomena, liver and kidney dysfunction

Fabry disease

alpha-GalA (X-linked)

Alpha-galactosidase (α-GalA)

Childhood

Classic form: acroparesthesias, angiokeratomas, hypohidrosis, characteristic corneal and lenticular opacities, proteinuria, peripheral neuropathy, TIA and stroke, heart disturbances and cardiomyopathy Heterozygous females: milder symptoms, later onset

  1. CADASIL cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, CARASIL cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy, COL4A1 COL4A1-associated diseases, RVCL retinal vasculopathy with cerebral leucodystrophy, TIA transient ischemic attack