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

Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis

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.

Inclusion Criteria:

• Diagnosis of CADASIL confirmed by Notch3 sequencing and/or skin biopsy.
• Age: 18+
• Subjects with speech, motor and/ or cognitive impairment will be included if their surrogate can provide the necessary information.

Exclusion Criteria:

• n/a