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.
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.
Authors: Roger A Moore; Christian Herzog; John Errett; David A Kocisko; Kevin M Arnold; Stanley F Hayes; Suzette A Priola Journal: Protein Sci Date: 2006-02-01 Impact factor: 6.725
Authors: Gábor G Kovács; Maria Puopolo; Anna Ladogana; Maurizio Pocchiari; Herbert Budka; Cornelia van Duijn; Steven J Collins; Alison Boyd; Antonio Giulivi; Mike Coulthart; Nicole Delasnerie-Laupretre; Jean Philippe Brandel; Inga Zerr; Hans A Kretzschmar; Jesus de Pedro-Cuesta; Miguel Calero-Lara; Markus Glatzel; Adriano Aguzzi; Matthew Bishop; Richard Knight; Girma Belay; Robert Will; Eva Mitrova Journal: Hum Genet Date: 2005-11-15 Impact factor: 4.132
Authors: Tiziana Sonati; Regina R Reimann; Jeppe Falsig; Pravas Kumar Baral; Tracy O'Connor; Simone Hornemann; Sine Yaganoglu; Bei Li; Uli S Herrmann; Barbara Wieland; Mridula Swayampakula; Muhammad Hafizur Rahman; Dipankar Das; Nat Kav; Roland Riek; Pawel P Liberski; Michael N G James; Adriano Aguzzi Journal: Nature Date: 2013-07-31 Impact factor: 49.962
Authors: Martin Paucar; Fengqing Xiang; Richard Moore; Ruth Walker; Elisabeth Winnberg; Per Svenningsson Journal: Prion Date: 2013-11-25 Impact factor: 3.931