title: Focal epilepsy as first symptom in CADASIL.
abstract: Recurrent transient ischemic attacks, migraine and dementia represent the principal symptoms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). During the course of the disease, about 10% of patients may experience epileptic seizures, mainly related to the presence of an ischemic stroke. We present a 30-year-old woman with new-onset focal epilepsy leading to the diagnosis of CADASIL. The neuropsychological testing revealed no cognitive impairment. Interictal EEG demonstrated spikes and polyspikes with low amplitude over the right occipital region during NREM sleep. MRI showed white-matter hyperintensities on both hemispheres with confluent lesions at the right parieto-occipital junction, with juxtacortical components. Like in multiple sclerosis, we can suppose that this type of white matter lesions, close to the cortex, may be causative of seizures.
authors.affiliation: Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.
authors.forename: Reana
authors.initials: R
authors.lastname: Velizarova
authors.forename: Isabelle
authors.initials: I
authors.lastname: Mourand
authors.forename: Anna
authors.initials: A
authors.lastname: Serafini
authors.forename: Arielle
authors.initials: A
authors.lastname: Crespel
authors.forename: Philippe
authors.initials: P
authors.lastname: Gelisse
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D046589:CADASIL / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000209:etiology*; D005091:Exons; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012640:Seizures / Q000503:physiopathology; D012890:Sleep
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch