NR AXJD
AU Begue,C.; Leiguarda,R.; Meli,F.; Romero,C.; Martinetto,H.; Schultz,M.; Rojas,E.; Sevlever,G.; Marengo,R.; Sacolitti,M.; Taratuto,A.L.
TI Long Surviving MV2 sCreutzfeldt-Jakob Disease: Clinical, Diagnostic Tests and Autopsy Findings
QU International Conference - Prion 2007 (26.-28.9.2007) Edinburgh International Conference Centre, Edinburgh, Scotland, UK - Book of Abstracts: Pathology and Pathogenesis P03.94
IA http://www.prion2007.com/pdf/Prion Book of Abstracts.pdf
PT Konferenz-Poster
AB
Phenotypic heterogeneity in sporadic CJD (sCJD) has been related to biochemical properties of the protease resistant PrP and to the the prion protein gene (PRNP) methionine/valine polymorphism at codon 129. MV2 subtype, a low percentage in most series, is characterized by ataxia, dementia and non-typical EEG together with a prolonged course and Kuru-plaques. In a recent report on 26 MV2 sCJD patients, MRI was the most sensitive diagnostic test (90%), CSF14.3.3 WB positive in 76%, while typical EEG sensitivity was low ( 8%). We report a 59 year-old male who presented slow and progressive cognitive decline, confusion, memory loss, speech and visuospatial impairment for six months. EEG was normal,14.3.3 CSF WB proved positive. He developed ataxia 7 months after onset. A 2nd MRI, performed 11mo after onset showed increased signal along brain cortex, caudate and putamen. Brain biopsy disclosed spongiform changes and plaque-like immunostaining. PrPres WB was type 2 with a normal glycoform ratio and codon 129 MV. He developed myoclonia 22 months since onset and akinetic mutism 40 months since onset and thereafter remained in a vegetative state until he died 46 mo after onset. Brain autopsy was performed including duramater, cranial nerves (trigeminal, optic), olfactory bulb; ulnar nerve, muscle as well as tonsil were also obtained. Severe spongiform changes, with focal status spongiosus, neuronal loss and astroglial hyperplasia were observed throughout the cortex, basal ganglia, thalamic nuclei, hipoccampus including Ammon horn and cerebellum with extense Purkinje cell loss and synaptic, granular and Kurulike plaques. PrP immunostaining was also disclosed in olfactory bulb, but not in the rest of the nerves or muscle examined nor in tonsil although there were a few immunostained cells in the vascular lumen of the latter. Duration range of our definite CJD cases is 2-25 mo, so this long surviving MV2 sCJD provides an opportunity to study PrPres distribution and accumulation.
FLENI SECYT BID 802 OC AR PID 98 027/ 1728 OC AR PID 2003 351
AD C. Begue, H. Martinetto, M. Schultz, E. Rojas, A.L. Taratuto, Instituto de Investigaciones Neurologicas, FLENI, Referral Centre for Creutzfeldt-Jakob Disease, Argentina; R. Leiguarda, F. Meli, C. Romero, G. Sevlever, R. Marengo, M. Sacolitti, Instituto de Investigaciones Neurologicas, FLENI, Argentina
SP englisch
PO Schottland