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Table 2 In vivo diagnosis of genetic 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

Genetic investigations

Pathological investigations

Biochemical investigations

CADASIL

NOTCH3 mutations

Evidence of granular osmiophilic material in affected arterioles

None

CARASIL

HTRA1 mutations

N/A

N/A

COL4A1

COL4A1 type IV collagen α1-chain

N/A

N/A

RVCL

TREX1 DNAse III

N/A

N/A

Fabry disease

Alpha Gal-A gene mutations

Lysosomal abnormalities in tissues

Deficiency a-galactosidase activity in serum, urine, leucocytes, tissues; abnormalities in urinary and tissues glycolipids

  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
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BMC Medicine

ISSN: 1741-7015

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