title: Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described inherited disorder. The pathologic gene maps on chromosome 19. The clinical spectrum of the disease consists of recurrent strokes, migraine, transient ischemic attacks, mood changes, and dementia. We report a genetically assessed CADASIL family with atypical clinical presentations of epileptic seizures. In two asymptomatic family members there were early brain abnormalities on MRI. Our report expands the clinical spectrum of CADASIL and suggests that it is possibly an undiagnosed disorder.
authors.affiliation: Istituto Scienze Neurologiche, Università di Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: P
authors.initials: P
authors.lastname: Carrera
authors.forename: G
authors.initials: G
authors.lastname: Ciacci
authors.forename: S
authors.initials: S
authors.lastname: Gonnelli
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: L
authors.initials: L
authors.lastname: Vismara
authors.forename: V
authors.initials: V
authors.lastname: Brancolini
authors.forename: E
authors.initials: E
authors.lastname: Signorini
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D002536:Cerebral Arteries; D002561:Cerebrovascular Disorders / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree