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Karl-Jürgen Bär, MD; Frank Häger, MD; Igor Nenadic; T. Opfermann, MSc; Michael Brodhun, MD; Ralf F. Tauber, MD; Stephan Patt, MD,PhD; Walter Schulz-Schaeffer, MD; Dietmar Gottschild, MD,PhD; Heinrich Sauer, MD,PhD

Arch Neurol. 2002;59:1815-1818.

Background  Genetic analyses of fatal familial insomnia, a prion disease, disclose a broader range of symptoms than previously described. Although insomnia and dysautonomia have been described as hallmarks of the disease, there is substantial variability in clinical presentation.

Objective  To evaluate serial fluorodeoxyglucose positron emission tomographic and electroencephalographic findings in atypical fatal familial insomnia without clinical insomnia.

Patient  A 63-year-old man who had a history of gait ataxia developed rapidly progressive dementia with mild dysautonomic features. Genetic investigation confirmed diagnosis of fatal familial insomnia (D178N mutation of the prion protein gene and Val/Met polymorphism on position 129 of the mutated allele) with typical neuropathologic findings.

Results  Clinical signs were not specific. An electroencephalogram showed scanty triphasiclike elements and general slowing. We found thalamic hypometabolism in positron emission tomographic scans to be present in a very early stage with progressive deterioration, and patchy cortical alterations showing progression over 6 months.

Conclusions  In the absence of clear clinical signs, an electroencephalogram was of major diagnostic value, although its specificity in fatal familial insomnia is under debate. Selective thalamic hypometabolism seems to be an early marker in fatal familial insomnia, while cortical changes vary with clinical presentation and stage.

From the Departments of Psychiatry(Drs Bär, Häger, and Sauer and Mr Nenadic), Nuclear Medicine (Mr Opfermann and Dr Gottschild), and Neuropathology (Drs Brodhun and Patt), Friedrich-Schiller-Universität Jena, Jena, Germany; and Institute of Neuropathology, Georg-August-Universität Göttingen, Göttingen, Germany (Dr Schulz-Schaeffer).

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