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Neurology 2000;54:1869-1871
© 2000 American Academy of Neurology
Brief Communications

Migraine with aura and white matter abnormalities: Notch3 mutation

M. Ceroni, MD, T. E. Poloni, MD, S. Tonietti, MD, D. Fabozzi, PhD, C. Uggetti, MD, F. Frediani, MD, F. Simonetti, MD, A. Malaspina, MD, D. Alimonti, MD, M. Celano, MD, M. Ferrari, MD and P. Carrera, PhD

From the Istituto Neurologico IRCCS C. Mondino, (Drs. Ceroni, Poloni, Tonietti, Uggetti, Simonetti, Malaspina, Alimonti, and Celano), Dipartimento di Scienze Neurologische Universita’ di Pavia; Laboratorio Biologia Molecolare Clinica (Drs. Fabozzi, Ferrari, and Carrera), IRCCS Ospedale S. Raffaele, Milan; and Servizio di Neurologia (Dr. Frediani), Ospedale Civile di Magenta, Italy.

Address correspondence and reprint requests to Dr. Mauro Ceroni, Department of Neurological Science, "Istituto Neurologico Casimiro Mondino," via Palestro 3, 27100 Pavia, Italy; e-mail: mceroni{at}unipv.it

The authors report on an Italian family with eight affected members who show autosomal dominant migraine with prolonged visual, sensory, motor, and aphasic aura. These symptoms are associated with white matter abnormalities on brain MRI. All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). White matter abnormalities occur in a variable percentage of the general migraine population; CADASIL should be suspected in migraineurs with prolonged atypical aura and white matter abnormalities.

Key words: Migraine—White matter abnormalities—Notch3—CADASIL




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