Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

2014-08-27 03:14:01 | BioPortfolio


The purpose of this study is to delineate early neurological features and their progression in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in order to facilitate early diagnosis, prevent erroneous diagnosis and mistreatment and improve physician education about this relatively common yet under-recognized dementing disorder.

Patients with CADASIL suffer from a variant from migraine that differs from wild type migraine in terms of its severity, progressive nature and underlying pathophysiology. Recurrent stereotypic acute confusional state associated with the headache episodes in patients with CADASIL is a distinctive phenomenon, which if recognized will lead to an earlier and accurate diagnosis of this condition.

Specific Aims:

- Characterize the nature, frequency and severity of migraine in patients with CADASIL.

- Delineate the phenomenon of acute confusional migraine as a distinct subgroup of migraine and establish its prevalence in patients with CADASIL.

- Determine the latency between the onset of neurological symptoms including migraine, and diagnosis of CADASIL and the prevalence of misdiagnosis.


New York University School of Medicine, Division of Neurogenetics is conducting a new research study for patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). We are inviting anyone age 18 or older with a confirmed diagnosis of CADASIL to participate. We greatly appreciate your help in this regard. Please be assured that if you participate, all the information you, your relatives or your physicians provide will be held in strict confidence.

CADASIL is often misdiagnosed due to lack of awareness of this condition among health care providers and because the disease can closely mimic other neurological conditions. People with CADASIL struggle to find a doctor who has knowledge about this condition. The purpose of this study is to better understand the early symptoms of CADASIL so doctors may learn to diagnose it early.

This research study will be based on review of medical information provided by you or your health care giver. If you are interested, please contact us by telephone. We will mail a questionnaire for you to fill out and return to us, and request a copy of your brain MRI, test results and office notes from your doctor. We will contact some people for a more detailed telephone interview. Your responses and questionnaire are still valuable even if we do not get other records. The estimated time to complete the questionnaire is about two hours. The telephone interview (if applicable) is expected to last for 30 to 45 minutes. It may be helpful to involve a family member or a friend while completing the questionnaire.

If you wish to participate in this study, please call our research office.We will tell you about the project and then, if you wish to participate, will mail you the questionnaires with return envelopes. Your participation and support is deeply appreciated.

Study Design

Observational Model: Case-Only, Time Perspective: Retrospective




NYU School of Medicine
New York
New York
United States




New York University School of Medicine

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:14:01-0400

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Cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL) is a lethal disease caused by a gene mutation that affects arteries in the brain. Symptoms include migraines, st...

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PubMed Articles [6 Associated PubMed Articles listed on BioPortfolio]

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.

CADASIL is a small-vessel disease caused by a cysteine-altering pathogenic variant in one of the 34 epidermal growth factor-like repeat (EGFr) domains of the NOTCH3 protein. We recently found that pat...

RVCL-S and CADASIL display distinct impaired vascular function.

We aimed to evaluate the role of endothelial-dependent and endothelial-independent vascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) an...

Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers.

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.

Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis.

Peak width of skeletonized mean diffusivity (PSMD) is a novel and fully automated, MRI biomarker, which has shown clinical relevance in cerebral small vessel diseases (SVD). We aimed here to assess PS...

Medical and Biotech [MESH] Definitions

A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)

A notch receptor characterized by a large extracellular domain containing 34 EPIDERMAL GROWTH FACTOR-like repeats. It functions to regulate CELL DIFFERENTIATION; APOPTOSIS; and CELL PROLIFERATION. Mutations in the EGF repeats of Notch-3 are associated with CADASIL.

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