Sporadic Creutzfeldt-Jakob disease with cerebellar ataxia at onset in the UK.
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.


CONCLUSIONS
A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause.
Cooper
S A
SA
Institute of Neurological Sciences, Southern General Hospital, 1345 Govan Road, Glasgow, UK. sarah.cooper@doctors.org.uk
Murray
K L
KL
Heath
C A
CA
Will
R G
RG
Knight
R S G
RS
D017668:Age of Onset; D000368:Aged; D001479:Basal Ganglia / Q000473:pathology; D002524:Cerebellar Ataxia / Q000209:etiology*; D003072:Cognition Disorders / Q000209:etiology; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011328:Prions / Q000235:genetics; D012189:Retrospective Studies; D006113:United Kingdom / Q000453:epidemiology
D011328:Prions