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From the Departments of Neuroscience, Neurology (Drs. Melberg and Lundberg), Psychiatry (Dr. Hetta), Pathology and Genetics, Clinical Genetics (Dr. Dahl), Oncology, Radiology, and Clinical Immunology, Radiology (Dr. Raininko), Uppsala University Hospital, Uppsala University PET Center (Dr. Valind), Uppsala, and Division of Pathology (Dr. Nennesmo), Huddinge Hospital, Karolinska Institute, Stockholm, Sweden.
Address correspondence and reprint requests to Dr. Atle Melberg, Department of Neuroscience, Neurology, University Hospital, S-751 85 Uppsala, Sweden; e-mail: atle.melberg{at}neurologi.uu.se
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 cortexwhite 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.
Key words: HereditaryCerebellar ataxiaDeafnessNarcolepsyCTMRIPETGenetics.
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