Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue
Open accessAbstract
Most previously reported mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) result in an odd number of cysteine residues within the epidermal growth factor (EGF)-like repeats in Notch3. We report here R75P mutation in two Japanese CADASIL families not directly involving cysteine residues located within the first EGF-like repeats. Probands in both families had repeated episodes of stroke, depression, dementia as well as T2 high-intensity lesions in the basal ganglia and periventricular white matter, but fewer white matter lesions in the temporal pole on MRI. These families provide new insights into the diagnosis and pathomechanisms of CADASIL.
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Clinical and radiological presentations in CADASIL depend on genotype.
“Likely contributing to this variability, growing evidence suggests that the clinical and radiological presentations in CADASIL are dependent on the genotype [26, 35, 44–46, 61, 62].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [46]
Anterior temporal involvement appears less common in subjects with cysteine-sparing NOTCH3 mutations, although the role of cysteine-sparing mutations in CADASIL pathogenesis remains debated.
“For example, anterior temporal involvement appears to be less common in subjects with cysteine-sparing NOTCH3 mutations, although the role of cysteine-sparing mutations in the pathogenesis of CADASIL remains a matter of debate [26, 35, 44–46, 62].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [46]
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- Authors
- Mizuno, T., Muranishi, M., Torugun, T., Tango, H., Nagakane, Y., Kudeken, T., Kawase, Y., Kawabe, K., Oshima, F., Yaoi, T., Itoh, K., Fushiki, S., & Nakagawa, M.
- Affiliations
- Kyoto Prefectural University of Medicine (JP)
- Toho University (JP)
- Kyoto first Red Cross hospital (JP)
- Venue
- Internal Medicine
- Published
- 2008
- Volume
- 47
- Issue
- 23
- Pages
- 2067-2072
- ISSN
- 0918-2918 (ISSN-L)
- 1349-7235
- OpenAlex
- W1987575740
- Cited by
- 49
- References
- 25
- Citations by year
- 2025: 2 · 2024: 5 · 2023: 2 · 2022: 5 · 2021: 3 · 2020: 7 · 2019: 5 · 2018: 6 · 2017: 2 · 2016: 2 · 2015: 2 · 2014: 4 · 2012: 1
- FWCI
- 0.64
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Internal Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Health, Labour and Welfare
- Topics
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Health Sciences › Medicine › Neurology › Intracerebral and Subarachnoid Hemorrhage Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- CADASIL, Notch3, EGF-like repeats, cysteine residues, familial stroke, dementia, depression, white matter lesions, basal ganglia, periventricular white matter, Japanese patients
- MeSH terms
- Receptor, Notch3, Cysteine, Female, Humans, Male, Middle Aged, Mutation, Pedigree, Asian People, CADASIL, Receptors, Notch
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