NR AMBG
AU Vital,C.; Gray,F.; Vital,A.; Ferrer,X.; Julien,J.
TI Prion disease with octapeptide repeat insertion
QU Clinical and Experimental Pathology 1999; 47(3-4): 153-9
PT journal article
AB OBJECTIVE: About 8% of prion disease cases are familial and a few are due to an octapeptide repeat insertion (OPRI) in the prion protein gene. A suitable neuropathological examination has been performed in 20 cases from 9 families and in 3 isolated cases. The number of OPRI ranges from 4 to 9 multiples of 24 base-pair. METHODS: Results from routine histopathological preparations and from immunohistochemistry performed after special tissue pretreatment were compared with those of molecular genetic investigation. RESULTS: Eight cases with 4 to 7 multiples of OPRI exhibited characteristic elongated deposits in the cerebellar molecular layer, which were visible on slides prepared with antibodies against the prion protein only. Conversely, 6 cases with 8 or 9 multiples of OPRI presented typical plaques already obvious on routine preparations. CONCLUSIONS: These variable modifications in the cerebellar molecular layer deserve to be underlined, in particular the elongated deposits which are characteristic for cases presenting 4 to 7 OPRI.
MH Adult; Cerebellum/*pathology; Female; Human; Male; Middle Age; Prion Diseases/*genetics/pathology; Prions/*genetics; *Repetitive Sequences, Amino Acid; Support, Non-U.S. Gov't
AD Laboratoire de Neuropathologie, Universite Victor Segalen, Bordeaux.
SP englisch
PO Frankreich