NR ARXB
AU Vital,C.; Gray,F.; Vital,A.; Parchi,P.; Capellari,S.; Petersen,R.B.; Julien,J.; Gambetti,P.
TI Cerebellar modifications at immunohistochemical study (IHC) in 3 cases of prion encephalopathy with octapeptide repeat insertion (OPRI)
QU Journal of Neuropathology and Experimental Neurology 1997; 56(N5): 591 Nr. 79
PT Meeting Abstract
VT Two brothers from a Basque family carried a 144 base-pair (bp) insertion in the prion protein gene. The third patient, from a Breton family, carrying a 192 bp insertion and having numerous plaques already visible on hematoxylin-eosin preparations was reported as a Gerstmann-Sträussler-Scheinker syndrome case, whereas other members of his family had been reported as Creutzfeldt-Jakob disease. At IHC with 3F4 antibody to prion protein (Dr Kasesak) cerebellar fragments from the Basque brothers exhibited synaptic staining in the granular layer and numerous patches of immunoreactivity in the molecular layer. Characteristically, most of these patches were elongated and oriented perpendicular to the surface of the cerebellar lamellae. In the third case the plaques already observed were strongly stained as well as several other round deposits scattered within the molecular layer. Elongated patches only visible at HIC with specific anti PrP antibody must not be confused with genuine plaques. So far, 9 families and 4 individual cases with OPRI have been reported, and chancteristic patches were seen in two other cases of prion encephalopathy with OPRI, one with 96 bp and the other with 144 bp. Such patches have never been reported in other cases of prion encephalopathy, studied by specific IHC. The denomination of individual patients with CJD or GSS should be avoided and prion encephalopathy with OPRI is probably most appropriate. Supported by Biomed H1-CT94~1483 and Biomed H4-CT95-0856.
IN Zwei baskische Brüder mit einer 144 bp Insertion und ein Bretone mit einer 192 bp Insertion im Oktapeptidbereich erkrankten an Prion-Encephalopahtien. Die Autoren ziehen diese Bezeichnung gegenüber Creutzfeldt-Jakob-Krankheit oder Gerstmann-Sträusler-Scheinker-Syndrom vor, weil beispielsweise bei einigen Mitgliedern der bretonischen Familie CJD, bei anderen aber GSS diagnostiziert wurde. Auffällig war an diesen drei Fällen, dass immunologisch längliche, senkrecht zur Zellmembran ausgerichtete Agregate von Prionprotein nachgewiesen wurde. Bisher soll es 9 Familien und 4 Einzelfälle mit Oktapeptidinsertionen gegeben haben.
ZR 0
AD
Vital,C.; Gray,F.*; Vital,A.; Parchi,P.*; Capellari,S.*; Petersen,R.B.*; Julien,J.; Gambetti,P.*
VITAL C, GRAY F*, V. Segalen University, Bordeaux, France. Garches Hospital, France, CWRU, Cleveland, OH.
SP englisch
OR Prion-Krankheiten 8