(CADASIL) Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is the most common vascular dementia. Individuals with CADASIL are destined to develop vascular cognitive impairment and dementia (VCID) which greatly impacts their quality of life.
Our research team is dedicated to finding ways to intervene in the CADASIL trajectory by using a more common form of dementia (autosomal dominant vascular) as a model to investigate specific features of VCID and to study interactions with risk factors impacting the aging life course.
Working directly with individuals diagnosed with CADASIL we plan to characterize the initial presentation and course of clinical, neuroimaging, and fluid markers to compare these with family members who have not been diagnosed with CADASIL (non-carrier controls (NC)). This approach allows for identifying when measures first differ from NC and which measures are indicating worsening. Additionally, we anticipate being able to clarify genetic, health, and lifestyle factors which impact clinically meaningful conclusions in CADASIL. This will occur using DNA analysis (exome sequence data and genome-wide genotyping), medical history and lifestyle questionnaires.
Our study will enroll a total of 500 participants across the US. Eligible participants will have had a genetic test for a NOTCH3 variant. Participants will complete 3 in-person visits in total as part of this study [baseline, visit II (18 months after baseline), and visit III (36 months after baseline)). Additional contact will occur by phone, mail, email or via the Internet and will be referred to as “remote visits”. Participants will also complete: a clinical interview, a neurological exam, neurocognitive and behavior assessments, MRI, and a blood draw at each study visit.
a) Age at least 18 years old.
b) Positive NOTCH 3 genetic testing.
c) Willing to commit to three in-person visits (baseline and 18-month follow-up and 36-month follow-up) as well as remote visits by phone, email, mail or internet.
d) Able to undergo an MRI scan and blood draw at each visit.