Quiz Form

Question Date: 20/01/2024

Question: Which of the following is not true regarding CADASIL?

Options:

Migraine with aura is often the first manifestation in third decade
Absence of family history excludes the diagnosis
Skin biopsy is an alternative to genetic testing
Hypertension and tobacco use contribute to poorer outcomes

Correct Answer: Absence of family history excludes the diagnosis

Explaination: CADASIL is the most common monogenic small vessel disease. Migraine is often the first manifestation usually in third decade Migraine with aura is typically described; but migraine without aura and isolated aura also have been reported Classic lacunar syndromes are hallmark and occur in fifth decade Inheritance is autosomal dominant however, possibility of variable presentations and sporadic mutation; absence of family history does not exclude CADASIL as a potential diagnosis Diagnosis is typically made by genetic testing for NOTCH3 mutations. Skin Biopsy is an alternative to genetic testing and performed when test is not available or negative/ equivocal Skin Biopsy shows granular osmiophilic material in small vessels by electron microscopy

Reference: Continuum : Cerebrovascular Disease (April 2023, Volume 29,no 2) Diagnosis and Management of Cerebral Small Vessel Disease ;Page 513-514