title: Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
abstract: Four patients affected with autosomal dominant cerebellar ataxia, deafness, and narcolepsy underwent brain CT and MRI. Radiologic findings were supratentorial atrophy (more pronounced than infratentorial atrophy), pronounced dilatation of the third ventricle, low T2 signal intensity in the basal ganglia, loss of cerebral cortex-white matter differentiation, and periventricular high-signal rims. 2-[18F]Fluoro-2-deoxy-D-glucose PET was done with one patient, without specific findings. Genetic analyses excluded SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, DRPLA, and huntingtin gene mutations.
authors.affiliation: Department of Neuroscience, Uppsala University Hospital, Sweden. atle.melberg@neurologi.uu.se
authors.forename: A
authors.initials: A
authors.lastname: Melberg
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: J
authors.initials: J
authors.lastname: Hetta
authors.forename: S
authors.initials: S
authors.lastname: Valind
authors.forename: I
authors.initials: I
authors.lastname: Nennesmo
authors.forename: P O
authors.initials: PO
authors.lastname: Lundberg
authors.forename: R
authors.initials: R
authors.lastname: Raininko
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed