Neuroimaging and Cognitive features of CADASIL:

A Hereditary Disease Leading to the Early Onset of Vascular Cognitive Impairment

CADASIL Resources (curecadasil.org)

Dorothee Schoemaker, Ph.D.

Fellow, Multicultural Alzheimer’s Prevention Program at Massachusetts General Hospital

Live lecture date: 09/14/2020

These learning questions are brought to you by the KnowNeuropsychology / APPCN collaboration.

*This quiz has four multiple-choice questions and two discussion questions.

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Mood disturbance is common in patients with CADASIL, with approximately 20% of individuals presenting with a major depressive episode. Forty percent of patients also present with this other neurobehavioral disturbance:

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Mr. Young walks into your office for an evaluation. He described a number of concerns that make you think that he may have CADASIL. You are curious about the earliest symptoms he may have experienced. Knowing about one of the most common first symptoms, you ask about:

3 / 6

You evaluated a female in her 50s with a strong family history of CADASIL and strongly suspect the genetic mutation in the patient, particularly given the presence of subtle executive dysfunction on testing. When reviewing her neuroimaging, you find:

4 / 6

In writing up your recommendations for a patient with genetically-confirmed CADASIL, you include the following evidence-based suggestions:

5 / 6

DISCUSSION: What are the ethical considerations of assessing for CADASIL?

6 / 6

DISCUSSION: Based on this presentation, what measures would you like to see to help diagnose the condition? What are pros and cons of each method?

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