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Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
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1999 (English)In: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 53, no 9, 2190-2 p.Article in journal (Refereed) Published
Abstract [en]

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.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-55939PubMedID: 10599806OAI: oai:DiVA.org:uu-55939DiVA: diva2:83847
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-04Bibliographically approved

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Dahl, Niklas

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