Cited by 125Cerebrovascular and genetic disordersIntracerebral and Subarachnoid Hemorrhage ResearchNeurological Disease Mechanisms and Treatments

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Review: Molecular genetics and pathology of hereditary small vessel diseases of the brain

Yamamoto, Y., Craggs, L., Baumann, M., Kalimo, H., Kalaria, R. N.·2011·Neuropathology and Applied Neurobiology

DOI 10.1111/j.1365-2990.2010.01147.x

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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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Smooth Muscle Notch1 Mediates Neointimal Formation After Vascular Injury
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COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage
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Cortical neuronal apoptosis in CADASIL
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Notch3 Is a Major Regulator of Vascular Tone in Cerebral and Tail Resistance Arteries
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A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling
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Monitoring Disease Progression in CADASIL With Diffusion Magnetic Resonance Imaging: A Study With Whole Brain Histogram Analysis
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Damage within a network of white matter regions underlies executive dysfunction in CADASIL
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Intracerebral hemorrhages in CADASIL
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COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage
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CHRONIC FAMILIAL VASCULAR ENCEPHALOPATHY
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Insidious Cognitive Decline in CADASIL
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Endothelial changes in muscle and skin biopsies in patients with CADASIL
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Functional redundancy of the Notch gene family during mouse embryogenesis: Analysis of Notch gene expression in Notch3-deficient mice
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Positron Emission Tomography Examination of Cerebral Blood Flow and Glucose Metabolism in Young CADASIL Patients
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Yield of Screening for CADASIL Mutations in Lacunar Stroke and Leukoaraiosis
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Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993.
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Genome-Wide Association Studies of MRI-Defined Brain Infarcts
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Neurological Signs in Relation to Type of Cerebrovascular Disease in Vascular Dementia
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Genetic Determinants of White Matter Hyperintensities on Brain Scans
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Aicardi-Goutieres syndrome
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Evaluation of diagnostic NOTCH3 immunostaining in CADASIL
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Arterioles of the Lenticular Nucleus in CADASIL
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Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)
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HRT1 modulates vascular smooth muscle cell proliferation and apoptosis
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Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation
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Large cerebral artery involvement in CADASIL
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Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain
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Detection of the founder effect in Finnish CADASIL families
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Mouse Notch 3 Expression in the Pre- and Postnatal Brain: Relationship to the Stroke and Dementia Syndrome CADASIL
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Retinal Findings in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Progressive supranuclear palsy phenotype secondary to CADASIL
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MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)
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Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway
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Retinal vascular abnormalities in CADASIL
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The Benefit of Docosahexanoic Acid on the Migration of Vascular Smooth Muscle Cells Is Partially Dependent on Notch Regulation of MMP-2/-9
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Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration
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Genes contributing to risk for common forms of stroke
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Rho kinase contributes to basal vascular tone in humans: role of endothelium-derived nitric oxide
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Cerebral Small Vessel Disease in Pseudoxanthoma Elasticum: Three Cases
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Proteome Analysis of Cultivated Vascular Smooth Muscle Cells from a CADASIL Patient
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Common mitochondrial sequence variants in ischemic stroke
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Cerebrospinal fluid findings in CADASIL
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Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy
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Histopathological abnormalities in ocular blood vessels of CADASIL patients
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CADASIL: underdiagnosed in psychiatric patients?
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A novel hereditary small vessel disease of the brain
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CADASIL Mimicking Primary Angiitis of the Central Nervous System
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Spontaneous lobar haemorrhage in CADASIL
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Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
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Scanning Laser Doppler Flowmetry Shows Reduced Retinal Capillary Blood Flow in CADASIL
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TREX1 acts in degrading damaged DNA from drug-treated tumor cells
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Characteristic Features of in vivo Skin Microvascular Reactivity in CADASIL
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Intracerebral haemorrhage in CADASIL
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A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13
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Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL
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Abnormal Vasoconstrictor Responses to Angiotensin II and Noradrenaline in Isolated Small Arteries From Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11‐year‐old male
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Coexistence of CADASIL and Alzheimer's disease
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Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system
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A cortical form of CADASIL with cerebral Aβ amyloidosis
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Is the increased expression of ubiquitin in CADASIL syndrome a manifestation of aberrant endocytosis in the vascular smooth muscle cells?
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephaloapthy (CADASIL)
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A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Clinical and radiological features
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Glycohistochemical characterization of vascular muscle cell destruction in CADASIL subjects by lectins, neoglycoconjugates and galectin‐specific antibodies
Brulin, P., Godfrain, C., Maurage, C., Reuck, J. D., Hauw, J., Kaltner, H., Bovin, N. V., Gabius, H., Ruchoux, M. M., Robert Kiss, A., et al. (2003) · Neuropathology and Applied Neurobiology · doi:10.1046/j.1365-2990.2003.00478.x · Cited by 12
Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient
Pescini, F., Sarti, C., Pantoni, L., Mangiafico, S., Bianchi, S., Dotti, M. T., Federico, A., & Inzitari, D. (2005) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2005.00539.x · Cited by 11
Familial arteriopathic leukoencephalopathy: imaging and neuropathologic findings.
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Cerebrovascular Amyloidosis and Dementia
Kalaria, R. N., Thomas, A. J., Oakley, A. E., Ince, P. G., Tamaoka, A., Mori, H., Kenny, R. A., & Ballard, C. G. (2003) · Current Medicinal Chemistry - Immunology Endocrine & Metabolic Agents · doi:10.2174/1568013033483267 · Cited by 10
Self-citation
[Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene].
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Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: A new disease entity?
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Rounding up the usual suspects
Kalaria, R. N. (2007) · Neurology · doi:10.1212/01.wnl.0000271882.58578.61 · Cited by 3
Self-citation
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Sorted by citations

Diagnostic Criteria for Vascular Cognitive Disorders: A VASCOG Statement
Sachdev, P., Kalaria, R., O’Brien, J., Skoog, I., Alladi, S., Black, S. E., Blacker, D., Blazer, D. G., Chen, C., Chui, H., et al. (2014) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000034 · Cited by 852
Self-citation
Stroke injury, cognitive impairment and vascular dementia
Kalaria, R. N., Akinyemi, R., & Ihara, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2016.01.015 · Cited by 647
Self-citation
Neuropathological diagnosis of vascular cognitive impairment and vascular dementia with implications for Alzheimer’s disease
Kalaria, R. N. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1571-z · Cited by 441
Self-citation
Pathophysiology of the Neurovascular Unit: Disease Cause or Consequence?
Stanimirovic, D. B., & Friedman, A. (2012) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.2012.25 · Cited by 359
The pathology and pathophysiology of vascular dementia
Kalaria, R. N. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2017.12.030 · Cited by 356
Self-citation

See all 125

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.
ORCID: Yamamoto, Y.
Craggs, L.
Baumann, M.
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
DOI: 10.1111/j.1365-2990.2010.01147.x
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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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