Small vessel disease (SVD): genetic risk factors

Genetic causes of SVD

• AD-RVLC
• Cerebral amyloid angiopathy (CAA)
• CADASIL
• HTRA1 gene mutations
• CARASAL
• Collagen 4A2 (COL4A2) gene mutations
• Fanconi anaemia (FANCL) gene mutations
• Fabry disease
• Forkhead box C1 mutations
• Hereditary cerebral haemorrhage with amyloidosis
• MELAS syndrome
• PADMAL syndrome

Red flags for genetic SVD

Acronyms

References

1. Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease. Stroke 2010; 41:e513-e518.
2. Alamowitch S, Plaisier E, Favrole P, et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009; 73:1873-1882.
3. Pantoni L. Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges. Lancet Neurol 2010; 9:689-701.
4. Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT. Hereditary cerebral small vessel diseases: a review. J Neurol Sci 2012; 322:25-30. 
5. Søndergaard CB, Nielsen JE, Hansen CK, Christensen H. Hereditary cerebral small vessel disease and stroke. Clin Neurol Neurosurg 2017; 155:45-57. 
6. And 7 more. Subscribe to see the full list

Related checklists

• Small vessel disease (SVD): non-genetic risk factors
• Small vessel disease (SVD): pathology
• Small vessel disease (SVD): clinical features
• Small vessel disease (SVD): management