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Review: Molecular genetics and pathology of hereditary small vessel diseases of the brain
Abstract
Y. Yamamoto, L. Craggs, M. Baumann, H. Kalimo and R. N. Kalaria (2011) Neuropathology and Applied Neurobiology37, 94–113 Molecular genetics and pathology of hereditary small vessel diseases of the brain Advances in molecular genetics have enabled identification of several monogenic conditions involving small vessels predisposing to ischaemic and haemorrhagic strokes and diffuse white matter disease. With emphasis on cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), we review the molecular pathogenesis of recently characterized disorders including cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), retinal vasculopathy with cerebral leukodystrophy (RVCL) and the Collagen type IV, alpha 1 (COL4A1)‐related disorders. CADASIL remains the most common hereditary small vessel disease (SVD) caused by >190 different mutations in the NOTCH3 gene, which encodes a cell‐signalling receptor. Mutant NOTCH3 instigates degeneration of vascular smooth muscle cells in small arteries and arterioles leading to recurrent lacunar infarcts. Mutations in the serine protease HTRA1 gene are associated with CARASIL. Aberrant HTRA1 activity results in increased transforming growth factor‐β signalling provoking multiple actions including vascular fibrosis and extracellular matrix synthesis. The RVCL disorders characterized by profound retinopathy are associated with mutations in TREX1, which encodes an abundant 3′–5′ DNA‐specific exonuclease. TREX1 mutations lead to detrimental gain‐of‐function or insufficient quantities of enzyme. The COL4A1‐related disorders are highly variable comprising four major phenotypes with overlapping systemic and central nervous system features including SVD with cerebral haemorrhages in children and adults. Mutant COL4A1 likely disrupts the extracellular matrix resulting in fragile vessel walls. The hereditary SVDs albeit with variable phenotypes demonstrate how effects of different defective genes converge to produce the characteristic arteriopathy and microvascular disintegration leading to vascular cognitive impairment.
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“Multiple hemorrhages or hemorrhagic infarcts are often associated with VCD, the common causes being sporadic or hereditary conditions associated with cerebral amyloid angiopathy (CAA)64 and other genetic disorders,65 although hypertension may have a role.”
From Diagnostic Criteria for Vascular Cognitive Disorders: A VASCOG Statement (2014) · cites this paper as [65]
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“Multiple hemorrhages or hemorrhagic infarcts are often associated with VCD, the common causes being sporadic or hereditary conditions associated with cerebral amyloid angiopathy (CAA)64 and other genetic disorders,65 although hypertension may have a role.”
From Diagnostic Criteria for Vascular Cognitive Disorders: A VASCOG Statement (2014) · cites this paper as [65]
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Metadata
- Authors
- Yamamoto, Y., Craggs, L., Baumann, M., Kalimo, H., & Kalaria, R. N.
- Affiliations
- Newcastle University (GB)
- University of Helsinki (FI)
- Corresponding author
- Kalaria, R. N.
- Venue
- Neuropathology and Applied Neurobiology
- Publisher
- Wiley
- Published
- 2011-01-11
- Volume
- 37
- Issue
- 1
- Pages
- 94-113
- ISSN
- 0305-1846 (ISSN-L)
- 1365-2990
- OpenAlex
- W1934351417
- Cited by
- 125
- References
- 177
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 5 · 2021: 7 · 2020: 6 · 2019: 11 · 2018: 9 · 2017: 8 · 2016: 10 · 2015: 10 · 2014: 17 · 2013: 7 · 2012: 15
- FWCI
- 1.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuropathology and Applied Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- National Institute of Neurological Disorders and Stroke (R21NS054047, NS054047)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Cerebrovascular and genetic disorders
- Health Sciences › Medicine › Clinical Neurology › Intracerebral and Subarachnoid Hemorrhage Research
- Life Sciences › Neuroscience › Neurology › Neurological Disease Mechanisms and Treatments
- Keywords
- CADASIL, CARASIL, NOTCH3 mutations, HTRA1, TREX1, COL4A1, lacunar infarction, cerebral hemorrhage, white matter disease, vascular cognitive impairment, transforming growth factor-beta signalling, extracellular matrix
- MeSH terms
- Receptor, Notch3, Animals, Brain, Capillaries, Cerebral Arterial Diseases, Cerebral Infarction, Cerebrovascular Disorders, Humans, Molecular Biology, Mutation, Retinal Vessels, Signal Transduction, Collagen Type IV, CADASIL, Receptors, Notch, Leukoencephalopathies
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