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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



Official Title: Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis

Brief Summary:

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.