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Published on: July 28, 2013
Migraine with aura and white matter abnormalities: Notch3 mutation
M Ceroni1, T E Poloni, S Tonietti
1Istituto Neurologico IRCCS C. Mondino, Pavia, Italy. mceroni@unipv.it
Neurology
|May 10, 2000
Summary
An Italian family with autosomal dominant migraine and white matter abnormalities was found to have a Notch3 mutation. This finding suggests cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) should be considered in migraine patients with prolonged aura.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Autosomal dominant migraine with aura is a neurological disorder.
- White matter abnormalities are observed in some migraine patients.
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic vascular disorder.
Observation:
- An Italian family exhibited autosomal dominant migraine with prolonged aura (visual, sensory, motor, aphasic).
- Affected family members displayed white matter abnormalities on brain MRI.
- All affected individuals carried the Notch3 (Arg153Cys) mutation.
Findings:
- The Notch3 (Arg153Cys) mutation, linked to CADASIL, was identified in the affected family.
- The study links this specific Notch3 mutation to migraine with prolonged aura and white matter changes.
- Variable white matter abnormalities are present in the general migraine population.
Implications:
- CADASIL should be suspected in migraineurs presenting with prolonged, atypical aura and white matter abnormalities.
- Genetic testing for Notch3 mutations may be beneficial for diagnosing certain migraine subtypes.
- This research highlights the overlap between migraine and cerebrovascular diseases like CADASIL.
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