NR AWCU
AU Campos,J.; Begue,C.; Sarasola,D.; Russo,G.; Schultz,M.; Martinetto,H.; Sevlever,G.; Equestre,M.; Pocchiari,M.; Leiguarda,R.; Taratuto,A.L.
TI Coexistence of brainstem lewy bodies, synuclein neurites and PrPtse type 1 in a patient with a 120 base pair insertion in the Prnp gene presenting with an akinetic-rigid syndrome
QU International Conference - Prion 2006: Strategies, advances and trends towards protection of society - 3.10.-6.10.2006, Torino, Italy, Lingotto Conference Centre - Poster sessions DIA-10
PT Konferenz-Poster
AB We report a 68 years old man with no positive family history for neurological diseases presenting with an akinetic rigid syndrome, resistant to levodopa therapy, who 1 year and 5 months after onset, developed loss of sphincter control and myoclonus. Repeated EEGs did not show CJD characteristic changes, MRIs disclosed only a progressive cortical atrophy, and the 14-3-3 proteins were absent in the CSF. He then developed akinetic mutism, generalized myoclonic jerks, and finally died 20 months after onset. At autopsy, he had diffuse cortical atrophy, more evident in the fronto-temporal areas, cortical and basal ganglia spongiform changes, astrocytic hyperplasia, and synaptic immunostaining for PrP, more prominent in cerebellum. Lewy bodies and neurites were disclosed in the substantia nigra and in the locus coeruleus in spite of no obvious macroscopic discoloration. At the western blot, we found the type 1 PrPTSE (according to the classification of Parchi and Gambetti). PRNP analysis revealed valine homozygosity at codon 129, a novel 5 octarepeats-insertion (R2-R2-R2a-R2-R2) between the R3 and R4 wild type sequence, and a point mutation at codon 211 corresponding to a change from glutamate to lysine residue. Cloning analysis is in progress to discriminate whether the insertion mutation segregates in the same allele of the point mutation or not. Occasionally, sCJD may present with an akinetic rigid syndrome mimicking progressive supranuclear palsy syndrome, corticobasal degeneration, or parkinsonism syndromes. Only two cases have been reported with pathological coexistence of idiopathic Parkinson disease and sCJD. However, the genetic complexity of this case is unique and further studies are needed to sort it out the effect of these mutations in the TSE formation and accumulation of PrP and on the coexistence of Parkinson-like lesions.
AD J. Campos, C. Begué, D. Sarasola, G. Russo, M. Schultz, H. Martinetto, G. Sevlever, R. Leiguarda, A.L. Taratuto: Instituto de investigaciones Neurologicas, FLENI1, Argentina; M. Equestre, M. Pocchiari: Istituto Superiore di Sanità, Rome, Italy. E-mail: ataratuto@fleni.org.ar
SP englisch
PO Italien