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CADASIL and CARASIL
Open accessAbstract
CADASIL and CARASIL are hereditary small vessel diseases leading to vascular dementia. CADASIL commonly begins with migraine followed by minor strokes in mid‐adulthood. Dominantly inherited CADASIL is caused by mutations (n > 230) in NOTCH 3 gene, which encodes Notch3 receptor expressed in vascular smooth muscle cells ( VSMC ). Notch3 extracellular domain ( N 3 ECD ) accumulates in arterial walls followed by VSMC degeneration and subsequent fibrosis and stenosis of arterioles, predominantly in cerebral white matter, where characteristic ischemic MRI changes and lacunar infarcts emerge. The likely pathogenesis of CADASIL is toxic gain of function related to mutation‐induced unpaired cysteine in N 3 ECD . Definite diagnosis is made by molecular genetics but is also possible by electron microscopic demonstration of pathognomonic granular osmiophilic material at VSMC s or by positive immunohistochemistry for N 3 ECD in dermal arteries. In rare, recessively inherited CARASIL the clinical picture and white matter changes are similar as in CADASIL , but cognitive decline begins earlier. In addition, gait disturbance, low back pain and alopecia are characteristic features. CARASIL is caused by mutations (presently n = 10) in high‐temperature requirement. A serine peptidase 1 ( HTRA 1 ) gene, which result in reduced function of HTRA 1 as repressor of transforming growth factor‐β ( TGF β) ‐signaling. Cerebral arteries show loss of VSMC s and marked hyalinosis, but not stenosis.
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“Biallelic mutations in high-temperature requirement serine peptidase A1 ( HTRA1 ) gene located on chromosome 10q25 result in subcortical lacunar infarcts and subsequent vascular dementia (591).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [591]
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Metadata
- Authors
- Tikka, S., Baumann, M., Siitonen, M., Pasanen, P., Pöyhönen, M., Myllykangas, L., Viitanen, M., Fukutake, T., Cognat, E., Joutel, A., & Kalimo, H.
- Affiliations
- University of Helsinki (FI)
- University of Turku (FI)
- Helsinki University Hospital (FI)
- Karolinska Institutet (SE)
- Kameda Medical Center (JP)
- Inserm (FR)
- Corresponding author
- Kalimo, Hannu
- ORCID
- Venue
- Brain Pathology
- Publisher
- Wiley
- Published
- 2014-09
- Volume
- 24
- Issue
- 5
- Pages
- 525-544
- ISSN
- 1015-6305 (ISSN-L)
- 1750-3639
- PMC
- PMC8029192
- OpenAlex
- W1604840218
- Cited by
- 189
- References
- 138
- Citations by year
- 2026: 6 · 2025: 20 · 2024: 14 · 2023: 19 · 2022: 19 · 2021: 15 · 2020: 17 · 2019: 20 · 2018: 24 · 2017: 10 · 2016: 13 · 2015: 10 · 2014: 1
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Brain Pathology (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Työväentutkimus Vuosikirja (submittedVersion)
- Funders
- Fondation Leducq
- Finnish Cultural Foundation
- Sigrid Juselius Foundation
- Swedish Research Council
- Topics
- Health Sciences › Medicine › Clinical Neurology › Cerebrovascular and genetic disorders
- Life Sciences › Neuroscience › Neurology › Neurological Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- CADASIL, CARASIL, vascular dementia, NOTCH3 mutations, vascular smooth muscle cells, osmiophilic granules, lacunar infarction, TGF-beta signaling, gain-of-function, hyalinosis
- MeSH terms
- Alopecia, Brain, Cerebral Infarction, Humans, Spinal Diseases, CADASIL, Leukoencephalopathies
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