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CADASIL 

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  1. 18-04-2024 | CADASIL | Online First

    The imaging findings of migraine with visual aura in a CADASIL patient

    Head MRI images of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients during migraine attacks are rare.

  2. Open Access 13-01-2024 | CADASIL | OriginalPaper

    Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of stroke, characterised by the early onset of ischaemic stroke and dementia. It is caused by a mutation in the …

  3. Open Access 01-12-2024 | CADASIL | OriginalPaper

    First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts—case report and brief review

    CADASIL is one of the most common autosomal dominant cerebrovascular diseases. According to incomplete statistics, its worldwide incidence rate is approximately3-5/100,000 [ 1 ]. It is strongly associated with a mutation in the NOTCH3 gene on …

  4. 19-02-2024 | CADASIL | Online First

    Decreased retinal vascular density is associated with cognitive impairment in CADASIL: an optical coherence tomography angiography study

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a dominant inherited cerebral small vessel disease (CSVD) caused by NOTCH3 gene mutations [ 1 ]. The pathological hallmark of CADASIL is the …

  5. Open Access 01-12-2023 | CADASIL | OriginalPaper

    ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics

    Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by NOTCH3 mutations. Typical CADASIL is characterised by subcortical ischemic strokes due to severe arteriopathy and fibrotic thickening …

  6. Open Access 04-03-2023 | Cerebral Small Vessel Disease | OriginalPaper

    Psychological impact of COVID-19 containment on CADASIL patients

    In France, at the heart of the COVID-19 epidemic in 2020 and well before the emergence of vaccination, major psychological distress and significant impairment of quality of life occurred in the general population at time of the containment [ 18 …

  7. 07-06-2023 | CADASIL | OriginalPaper

    Presumed periventricular venous infarction on magnetic resonance imaging and its association with increased white matter edema in CADASIL

    Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebral small vessel disease (CSVD) caused by mutations in the NOTCH3 gene [ 1 ]. Early studies estimated that the prevalence …

  8. Open Access 01-12-2022 | CADASIL | OriginalPaper

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) masquerading as CNS demyelination

    Cerebral small-vessel disease is a condition that is frequently seen in association with ischemic stroke and dementia [ 1 ]. The abbreviation CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) was …

  9. 27-01-2023 | Migraine | Letter

    Arterial spin labeling MRI to mark the border between migrainous and ictal pathophysiology in CADASIL encephalopathy: a case report

  10. Open Access 01-12-2022 | Magnetic Resonance Imaging | OriginalPaper

    Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-amyloid and non-arteriosclerotic type of monogenic hereditary cerebral small vessel disease. CADASIL usually occurs in middle age, with …

  11. Open Access 01-12-2022 | CADASIL | OriginalPaper

    Proteomic profiling in cerebral amyloid angiopathy reveals an overlap with CADASIL highlighting accumulation of HTRA1 and its substrates

    Cerebral amyloid angiopathy (CAA) is an age-related condition and a major cause of intracerebral hemorrhage and cognitive decline that shows close links with Alzheimer's disease (AD). CAA is characterized by the aggregation of amyloid-β (Aβ) …

  12. 18-08-2023 | CADASIL | Online First

    Bilateral non-arteritic anterior ischemic optic neuropathy as first manifestation of CADASIL in an elderly patient

  13. 26-04-2023 | CADASIL | OriginalPaper

    Diffusion prepared pseudo-continuous arterial spin labeling reveals blood–brain barrier dysfunction in patients with CADASIL

    The blood–brain barrier (BBB) is a highly selective structural and biochemical barrier formed by the vascular endothelium, together with a specialized basement membrane, pericytes, and astrocyte end-feet [ 1 ]. BBB facilitates the transport of …

  14. 25-03-2023 | Stroke | OriginalPaper

    Antiplatelet use and CADASIL: a retrospective observational analysis

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited monoallelic microangiopathy. CADASIL is caused by NOTCH3 gene mutations leading to impaired cerebrovascular …

  15. 01-04-2021 | Dementia | OriginalPaper

    SQSTM1 gene as a potential genetic modifier of CADASIL phenotype

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease and is caused by mutations in the NOTCH3 gene. Interestingly, CADASIL patients present …

  16. 01-12-2020 | CADASIL | OriginalPaper

    Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom.

  17. 01-12-2020 | Stroke | Original Research

    Plasma neurofilament light chain and glial fibrillary acidic protein predict stroke in CADASIL

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene, leading to devastating disease burden with …

  18. Open Access 01-12-2020 | Migraine | OriginalPaper

    Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (OMIM: 125310) is an autosomal dominant small vessel disease predominantly caused by mutations in NOTCH3 gene (HGNC ID: 7883), which encodes …

  19. Open Access 14-07-2022 | Stroke | BriefCommunication

    Clinical patterns in CADASIL

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cause of small vessel disease. It commonly carries a poor prognosis with affected individuals developing cognitive …

  20. 13-07-2022 | Migraine | Online First

    CT perfusion appearance of CADASIL coma

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