[Creutzfeldt-Jakob disease in a dura transplant recipient: first observation in Austria]. / Creutzfeldt-Jakob-Krankheit bei einem Dura-Transplantat-Empfänger: Erstbeobachtung in Osterreich.

Dura mater grafts can lead to Creutz-feldt-Jakob disease (CJD) as late complication (dura-CJD). So far 61 dura-CJD cases have been described worldwide. We report here the first dura-CJD case in Austria. A 50-year-old man had a traumatic open frontobasal skull fracture with tearing of dura mater in 1977. Reconstructive surgery used Lyodura (braun Melsungen AG, BRD). Lyodura was derived from pooled cadaveric dura. Ten years after the dural transplantation, the patient developed gait ataxia, paresthesia of both legs, myoclonus and visual disturbance. CT was unremarkable. EEG showed diffuse unspecific changes. The patient died 5 months after onset of disease. Neuropathological examination showed typical histopathology of CJD. Immunocytochemistry detected typical type prion protein (PrP) deposits and scattered PrP plaques in cerebral and cerebellar cortex, basal ganglia and spinal cord. Cerebellar white matter contained numerous PrP miniplaques. This pattern is unusual for sporadic CJD, but is similar to that in CJD after human growth hormone treatment. In our patient and 13/19 earlier described cases with dural graft covering the cerebrum ("central inoculation"), cerebellar disturbance was the initial symptom. Therefore, cerebellar signs are characteristic as initial symptoms in iatrogenic CJD, irrespective of central (cerebral dura mater graft) or peripheral inoculation (e.g., human growth hormone treatment). These data do not support the hypothesis that primary cerebellar symptoms in iatrogenic CJD after peripheral inoculation reflect migration of the infectious agent from the periphery via spinal cord and cerebellum to the cerebrum.

[Cerebrospinal fluid diagnosis of Creutzfeldt-Jakob disease]. / Liquordiagnostik der Creutzfeldt-Jakob-Krankheit (CJK).

Diagnosis of Creutzfeldt-Jakob disease (CJD) at lifetime according to the international diagnostic criteria may be greatly improved by the additional assay of 14-3-3 protein in cerebrospinal fluid (CSF). Occurrence of 14-3-3 protein in CSF may be observed in etiologically different conditions of brain damage, but confers high diagnostic specificity in cases of suspected CJD based on the diagnostic criteria. We investigated the occurrence of 14-3-3 protein in CSF of 20 patients with an accompanying diagnosis "suspected CJD", of whom 5 cases had to be classified as neither probable nor possible CJD according to the international diagnostic criteria, as well as in 18 control cases with diseases other than CJD. Assay of 14-3-3 comprised SDS-PAGE, western blot, immunostaining with specific antibody, and luminiscence detection. With regard to case histories at the end of our study, 8 definitive and probable CJD cases were 14-3-3 positive and 2 possible CJD cases 14-3-3 negative. Of the 10 cases with final diagnosis other than CJD, 8 cases (in part with manifest or suspected brain damage; one case with hemorrhagic CSF) were 14-3-3 positive. Of the 18 controls with diseases other than CJD, 6 patients, characterized by brain tissue lesions or meningitis, respectively, were found to be 14-3-3 positive. Our observations, the first in Austria and on a limited number of patients yet, are in accordance with previous reports in the literature and further support the use of the 14-3-3 protein assay in CSF as a diagnostic tool for CJD, provided that probands had been pre-evaluated positively by the international diagnostic criteria for CJD.

[Epidemiology of transmissible spongiform encephalopathies (prion diseases) in Austria]. / Epidemiologie der übertragbaren spongiformen Enzephalopathien (Prion-Krankheiten) in Osterreich.

Between 1969 and 1996, transmissible spongiform encephalopathy was definitely diagnosed by autopsy and/or biopsy in 98 Austrian patients. The yearly incidence increased significantly in past years (1996: 1.41 cases per million inhabitants). This increase likely results from increased awareness in the medical community and effectuation of the diagnostic autopsy. The new variant of Creutzfeldt-Jakob disease (CJD), probably transmitted from bovine spongiform encephalopathy (BSE), has not occurred in Austria. The percentage of patients older than 70 years increased until 1989 and declined slightly thereafter. One patient received a dura mater graft 11 years before death. Another patient had familial CJD with a glutamatelysin mutation on codon 200 of the prion protein (PrP) gene PRNP. One more patient died from Gerstmann-Sträussler-Scheinker disease (GSS), three patients from fatal familial insomnia (FFI). Another patient received intramuscular injections of a purified RNA preparation (Regeneresen) produced from various organs including brain. The age at death symmetrically distributes around a median of 64 years. Two CJD patients were unusually young (27 and 30 years). Most patients (72.7%) died within 6 months of disease. Retrospectively, 81% of patients had clinical diagnostic criteria of probable or possible CJD (52% probably and 29% possible). In 19%, clinical criteria for CJD were not fully met. There is no case clustering with specific professional groups or geographic areas. However, residents of Vienna, or Vienna and Lower Austria, respectively, had CJD diagnosed twice or three times more frequently than the rest of the country, indicating regionally differing qualities of case retrieval.