NR AODZ
AU Brett,F.M.; Cervenakova,L.; Collinge,J.; Farrell,M.A.; Gibbs,C.J.Jr.; Traynor,B.; Staunton,H.
TI Sporadic fatal dementia with thalamic gliosis and DI78N PrP genotype but with absence of spongiform change and negative PrP immunocytochemistry
QU Journal of Neuropathology and Experimental Neurology 1998; 57: 492 Nr. 93
PT Meeting Abstract
VT A 33 year old man presented with a history of intermittent numbness in the right arm of some months duration and progressive unsteadiness of gait for 6 weeks. He slept normally. He had cerebellar signs, a low grade pyrexia and hyperhidrosis. He subsequently developed dementia and myoclonus and died 16 months after first clinical presentation. There was no family history of dementia or ataxia. Investigations revealed the 14-3-3 protein present in two CSF samples but absent in one. Analysis of the PRNP gene revealed that the patient carried an aspartic acid to asparagine mutation at codon 178 coupled with methionine at polymorphic codon 129 and was methionine/valine heterozygous for codon 129 polymorphism. MRI revealed minor evidence of vermian atrophy only. Post mortem examination demonstrated a normal gross cortical mantle with normal ventricles and deep grey matter. There was pan-cerebellar atrophy. Microscopic examination failed to reveal any abnormality in the cortex or subcortical white matter. Significant nerve cell loss and gliosis without spongiform change was present in the thalamus especially the dorsomedial (DM) nucleous. Spongiform change was not present and 3F4 immunocytochemistry for PrP was negative in all areas. This case serves to illustrate the widening clinical phenotype of the 178 Asn mutation.
AD
F.M. Brett*1, L. Cervenáková 2, J. Collinge 3, M.A. Farrell*1, C.J. Gibbs 2, B. Traynor 1, H. Staunton 1,
Beaumont Hospital, Dublin, Ireland 1, NIH, Bethesda, Maryland, USA 2, Imperial College, London 3, gibbs@codon.nih.gov
ZR 0 Zitate
SP englisch
OR Prion-Krankheiten 2