Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy
1999 (English)In: Neurology, ISSN 0028-3878, Vol. 53, no 9, 2190-2 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
1999. Vol. 53, no 9, 2190-2 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-55939PubMedID: 10599806OAI: oai:DiVA.org:uu-55939DiVA: diva2:83847