Abstract Details

Title Retrospective Study of Multi-site CADASIL: Implications for Clinical and Research Practice

Topic Aging, Dementia, and Behavioral Neurology

Presentation(s) P6 - Poster Session 6 (8:00 AM-9:00 AM)

Poster/Presentation
Number 9-016

Objective

To present data on 4 USA CADASIL cohorts.

Background CADASIL is the most common monogenic cause of vascular cognitive impairment and dementia (VCID). Persons with NOTCH3 pathogenic variants causing CADASIL can be evaluated from presymptomatic to symptomatic phases of VCID. An NIH-funded multi-site natural history study of 400 CADASIL patients and 100 non-carrier family members (www.cadasil-consortium.org) has begun to characterize cross-sectional and longitudinal VCID, detect the earliest changes in biomarkers, and document the phenotype of CADASIL in North America. Here we present background data obtained from four US institutions.

Design/Methods By requesting research collaboration via email, we quickly received more than 60 responses. Following one in-person meeting and more than 30 teleconferences, a grant was submitted for a multi-site CADASIL study. In preparation, several neurologists with active cohorts submitted retrospective clinical data. Phenotype data were harmonized and analyzed at UCSF.

Results 110 subjects with clinical data were identified at four US sites: UCSF (n=58), Loyola University Medical Center (n= 32), Emory University (n= 11) and Columbia University (n=9). Median age of onset not including migraine was 47 years but including migraine was 28. Anterior temporal pole white matter involvement on brain MRI was noted in 89%. 25% had microbleeds. 56% had migraine of any type, with 49% having migraine with aura; nearly one-third had headache not otherwise specified. 24% had seizures noted in their records. 91% were considered symptomatic based on their clinical history, neurological exam and/or cognitive performance. Half had MCI and 29% had dementia. Mean MMSE was 27.0 ± 4.5 (range 8, 30) and mean MoCA was 24.7 ± 4.6 (range 5, 30).

Conclusions

Although most findings were consistent with reports from European and Asian cohorts, notable differences exist and will be presented. This retrospective data supported our recently NIH-funded multi-site CADASIL natural history study.

Authors/Disclosures
Michael D. Geschwind, MD, PhD, FAAN (UCSF) PRESENTER	Dr. Geschwind has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Brainstorm Cell Therapeutics, Inc.. Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Walter Grubb. Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Gerson Lehrman Group. Dr. Geschwind has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Reata Pharmaceuticals, Inc..
Jennifer Zitser-Koren, MD (UCSF)	Dr. Zitser-Koren has nothing to disclose.
Fanny M. Elahi, MD, PhD	Dr. Elahi has nothing to disclose.
Ihab Hajjar	Ihab Hajjar has nothing to disclose.
Jose Gutierrez, MD (Columbia University)	Dr. Gutierrez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cardiovascular Research Foundation. Dr. Gutierrez has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for White and Rusell. Dr. Gutierrez has received research support from NIH. Dr. Gutierrez has received publishing royalties from a publication relating to health care. Dr. Gutierrez has received publishing royalties from a publication relating to health care.
Iman Fathali	No disclosure on file
Daven Crossland (UCSF)	No disclosure on file
Michael Terranova (UCSF DR. MICHAEL GESCHWIND)	Michael Terranova has nothing to disclose.
Theresa Driscoll (Ucsf)	No disclosure on file
Henry J. Bockholt (Georgia State University)	The institution of Henry Bockholt has received research support from NIH. The institution of an immediate family member of Henry Bockholt has received research support from NIH.
Jane S. Paulsen, PhD (University of Wisconsin, Madison)	Dr. Paulsen has received personal compensation in the range of $0-$499 for serving as a Consultant for CHDI. Dr. Paulsen has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Wave Life Sciences. Dr. Paulsen has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for HDSA. The institution of Dr. Paulsen has received research support from NIH/NIA. The institution of Dr. Paulsen has received research support from NIH/NINDS.
Mirjana Djakovic (Loyola University Medical Center)	No disclosure on file
Michael J. Schneck, MD, FAAN (Loyola University Chicago, Stritch School of Medicine)	An immediate family member of Dr. Schneck has received personal compensation for serving as an employee of Cellcarta. Dr. Schneck has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for HLT Medical. Dr. Schneck has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Miscellaneous legal firms. Dr. Schneck has stock in Baxter Labs. The institution of Dr. Schneck has received research support from NIH.
Jose Biller, MD, FACP, FAHA, FAAN (Loyola University Stritch School of Medicine)	Dr. Biller has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wolters Kluwer. Dr. Biller has received publishing royalties from a publication relating to health care.

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