NR AMYR
AU Zeidler,M.; Stewart,G.E.; Barraclough,C.R.; Bateman,D.E.; Bates,D.; Burn,D.J.; Colchester,A.F.C.; Durward,W.; Fletcher,N.A.; Hawkins,S.A.C.; Mackenzie,J.M.; Will,R.G.
TI New variant Creutzfeldt-Jakob disease: neurological features and diagnostic tests.
QU Lancet 1997 Sep 27; 350(9082): 903-7
PT journal article
AB
Background
In April, 1996, ten cases of Creutzfeldt-Jakob disease (CJD) with an apparently new clinicopathological phenotype were published and it was suggested that these new variant cases (nvCJD) might be causally linked to bovine spongiform encephalopathy (BSE). There have now been 21 cases of nvCJD in the UK and one case in France. We report clinical features and diagnostic test results of the first 14 cases of nvCJD in the UK.
Methods
Case ascertainment of CJD was mainly by direct referral from neurologists and neuropathologists. Clinical and investigative details were obtained by interview with patients' relatives and by examination of case notes. Ten cases in this report were examined while alive. Prion protein (PrP) gene analysis was carried out with informed consent from the patient or from a relative. The diagnosis of nvCJD was established histologically.
Findings
Eight cases were women. Mean age at onset of symptoms was 29 (16-48) years and the median duration of illness was 14 (9-35) months. All patients had early psychiatric symptoms, most often depression, and 13 were seen by a psychiatrist early in the clinical course. Eight patients developed early sensory symptoms which were persistent and often painful. Neurological signs, including ataxia and involuntary movements, developed in all cases and towards the end of the illness, most had akinetic mutism. The electroencephalogram was abnormal in most patients but typical periodic complexes of CJD were not seen in any case. Cerebral imaging was usually normal or showed non-specific abnormalities; in two cases magnetic-resonance imaging scans showed high signal in the thalamus.
Interpretation
Clinical features in these cases are similar and relatively distinct from other forms of CJD, suggesting that this is a new clinical phenotype consistent with a single strain of infectious agent. There is, however, some overlap with atypical cases of sporadic CJD, and the diagnosis of nvCJD remains dependent on neuropathological confirmation.
IN Von der 14 ersten britischen Patienten mit der neuen Variante der Creutzfeldt-Jakob-Krankheit waren 8 Frauen, 6 Männer. Das Durchschnittsalter war 29 (16-48), die durchschnittliche Krankheitsdauer betrug 14 Monate (9-35). Alle Patienten hatten frühe psychiatrische Symptome, meistens Depressionen. 8 Patienten hatten frühe und anhaltende sensorische Störungen, die oft schmerzhaft waren. Gegen Ende der Krankheit entwickelten alle Patienten neurologische Störungen einschließlich Ataxie und unwilkürliche Bewegungen. Einige entwickelten auch eine Bewegungsstarre. Bei den meisten Patienten war das EEG nicht normal, aber die typischen periodischen Komplexe fehlten in allen Fällen. Nur in 2 Fällen zeigten NMR-Scans starke Signale im Thalamus.
ZR 38
MH Adolescent; Adult; Creutzfeldt-Jakob Syndrome/classification/*diagnosis/*physiopathology; Electroencephalography; Female; Human; Male; Middle Age; Phenotype; Prions/genetics; Support, Non-U.S. Gov't; Tomography, Emission-Computed, Single-Photon; Tomography, X-Ray Computed
AD National Creutzfeldt-Jakob Disease Surveillance Unit, Western General Hospital, Edinburgh.
SP englisch
PO England