I will focus mainly on two conditions CADASIL as a monogenic cause of ischemic small vessel disease and hereditary variants of cerebral amyloid angiopathy. At the end, I will briefly comment on Fabry disease to give you an example of a modified by treatment illustrate the complexity of SVD and as systemic condition associated with SVD and deduced pathophysiologic concepts
Applying the New Diagnostic Criteria Stephen Salloway, MD, MS; Brown Medical School
Consultation-Elan, Janssen AI, Avid-Lilly, Pfizer, Eisai, and Bristol-Myers Squibb
Honorarium-Eisai Inc., Pfizer Inc, Novartis, Forest, Elan, and Athena Diagnostics
Data monitoring-Merck-Serono and Medivation
Research support-Elan, Janssen AI, Bristol-Myers Squibb, Eisai, Pfizer, Medivation, Genentech, Bayer, GE and; NIA Alzheimer’s Disease Neuroimaging Initiative, NIA Dominantly Inherited Alzheimer’s Network, the Alzheimer’s Association, The Norman and Rosalie Fain Family Foundation, the John and Happy White Foundation and the Champlin Foundation
We face a large growing population at risk for AD and eager to learn more about their risk
10,000 Baby Boomers will turn 65 every day for the next 15 years
Amyloid PET may be widely used by clinicians especially if there is third party reimbursement but with a limited evidence base or guidelines on what the test tells us about the risk and timing of AD, when to order it, and what to say to patients with preclinical or prodromal AD
There will be an explosion in use of amyloid PET studies if amyloid-based treatments prove to be effective for any stage of the disease
46-year-old woman with a college education and minimal cognitive complaints. She works full-time and cares for her children without difficulty. She pays the household bills and does all the cooking. Her husband feels that her memory is normal and no different from his.
Her mother had a PS1 mutation with age of onset of 50. She has not yet been tested.
MRI is normal and delayed recall shows borderline impairment.
Diagnosis —Dubois- suspicious for presymptomatic AD