• S A Cooper, K L Murray, C A Heath, R G Will, and R S G Knight.
• Institute of Neurological Sciences, Southern General Hospital, 1345 Govan Road, Glasgow, UK. sarah.cooper@doctors.org.uk
• J. Neurol. Neurosurg. Psychiatr. 2006 Nov 1; 77 (11): 127312751273-5.

ObjectiveTo 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.MethodsA retrospective review of autopsy-proved cases of sCJD cases in the UK, 1990-2005, identifying those presenting with cerebellar features without early cognitive decline.Results29 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.ConclusionA better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause.

22 keywords...

hide…