Quiz Form

Question Date: 14/10/2023

Question: A 45-year-old woman with a history of migraine headaches with aura and cognitive difficulties developed a transient episode of right hemiparesis that resolved in 15 minutes <br><br>Neurologic examination reveals difficulties with attention and a spastic gait<br>She has family history of migraine and dementia in her mother and ischemic stroke in her brother <br>An MRI examination reveals symmetric increase in T2 signal in the subcortical white matter, including the temporal pole and the external capsule<br>These findings are suggestive of a mutation affecting which of the following genes?

Options:

• CLCNA1
• GLA gene
• NOTCH3
• Mitochondrial transfer RNA

Correct Answer: NOTCH3

Explaination: Patient has autosomal dominant disorder, migraine, TIA and leukodystrophy suggestive of CADASIL, caused by NOTCH3 mutation

Reference: Patient has autosomal dominant disorder, migraine, TIA and leukodystrophy suggestive of CADASIL, caused by NOTCH3 mutation