NR AVKT
AU Cooper,S.A.; Murray,K.L.; Heath,C.A.; Will,R.G.; Knight,R.S.G.
TI Sporadic Creutzfeldt-Jakob disease with cerebellar ataxia at onset in the UK
QU Journal of Neurology, Neurosurgery and Psychiatry 2006 Nov; 77(11): 1273-5
IA http://jnnp.bmj.com/cgi/content/full/77/11/1273
PT journal article
AB OBJECTIVE: To determine the frequency, in the UK, of sporadic Creutzfeldt-Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the syndrome. METHODS: A retrospective review of autopsy-proved cases of sCJD cases in the UK, 1990-2005, identifying those presenting with cerebellar features without early cognitive decline. RESULTS: 29 of 618 (5%) patients with sCJD had an isolated cerebellar onset. Mean illness duration was 9 months. Subsequently, 21 (72%) developed myoclonus and 23 (79%) developed pyramidal features. Magnetic resonance imaging showed high signal in the basal ganglia in 11 of 14 (79%) patients. 7 of 15 (47%) patients were valine homozygotic at prion protein gene (PRNP)-129. Only 8 (28%) cases were referred to the surveillance unit after death. CONCLUSION: A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause.
MH Age of Onset; Aged; Basal Ganglia/pathology; Cerebellar Ataxia/*etiology; Cognition Disorders/etiology; Creutzfeldt-Jakob Syndrome/*complications/epidemiology/genetics; Female; Great Britain/epidemiology; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Prions/genetics; Retrospective Studies
AD Sarah A. Cooper (sarah.cooper@doctors.org.uk), Formerly the National CJD Surveillance Unit, Institute of Neurological Sciences, Southern General Hospital, 1345 Govan Road, Glasgow, UK; K. L. Murray, C. A. Heath, R. G. Will, R. S. G. Knight, The National Creutzfeldt-Jakob Disease Surveillance Unit, Western General Hospital, Edinburgh, UK
SP englisch
PO England