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Question
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Which of the following is not true regarding CADASIL?
Explanation
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CADASIL is the most common monogenic small vessel disease.<br>Migraine is often the first manifestation usually in third decade<br>Migraine with aura is typically described; but migraine without aura and isolated aura also have been reported<br>Classic lacunar syndromes are hallmark and occur in fifth decade<br>Inheritance is autosomal dominant however, possibility of variable presentations and sporadic mutation; absence of family history does not exclude CADASIL as a potential diagnosis<br>Diagnosis is typically made by genetic testing for NOTCH3 mutations.<br>Skin Biopsy is an alternative to genetic testing and performed when test is not available or negative/ equivocal<br>Skin Biopsy shows granular osmiophilic material in small vessels by electron microscopy
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Reference
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Continuum : Cerebrovascular Disease (April 2023, Volume 29,no 2) Diagnosis and Management of Cerebral Small Vessel Disease ;Page 513-514
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Option 1
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Is Correct (Option 1):
Migraine with aura is often the first manifestation in third decade
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Option 2
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Is Correct (Option 2):
Absence of family history excludes the diagnosis
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Option 3
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Is Correct (Option 3):
Skin biopsy is an alternative to genetic testing
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Option 4
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Is Correct (Option 4):
Hypertension and tobacco use contribute to poorer outcomes
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