NR AUGQ
AU Basset-Leobon,C.; Uro-Coste,E.; Peoc'h,K.; Haik,S.; Sazdovitch,V.; Rigal,M.; Andreoletti,O.; Hauw,J.J.; Delisle,M.B.
TI Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques
QU Archives of Neurology 2006 Mar; 63(3): 449-52
PT case reports; journal article
AB OBJECTIVE: To report the clinical and neuropathological features in the first patient seen, to our knowledge, with familial Creutzfeldt-Jakob disease and an R208H mutation associated with a Val/Val homozygosity at codon 129 in the prion protein gene (PRNP) and a type 2 protease-resistant prion protein. PATIENT AND RESULTS: A 61-year-old man with a long-standing history of memory loss and emotional disorders had an obvious behavioral change. Then he developed cerebellar ataxia, followed by cognitive decline. He had no myoclonus. Electroencephalography showed slow activity, and 14-3-3 protein detection was negative. Finally, the patient developed akinetic mutism and died 7 months after the onset of ataxia. Neuropathological examination showed severe spongiform changes in the frontal cortex and striatum and gliosis in the striatum and thalamus. Kuru plaques were noted in the cerebellum, notably in the molecular layer. Immunohistochemical findings showed granular, synaptic, perineuronal, and perivacuolar staining with antiprion antibodies. Kuru plaques were also stained. CONCLUSION: This study strengthens the linkage of the R208H mutation to Creutzfeldt-Jakob disease and points to some particular features such as Kuru plaques and long-standing psychiatric signs.
MH Amyloid/*genetics/metabolism; Arginine/*genetics; Blotting, Western/methods; Brain/pathology; Comparative Study; Creutzfeldt-Jakob Syndrome/*genetics/metabolism/*pathology/physiopathology; Haplotypes; Histidine/*genetics; Humans; Immunohistochemistry/methods; Male; Middle Aged; *Mutation; Protein Precursors/*genetics/metabolism; Research Support, Non-U.S. Gov't; Senile Plaques/pathology; Valine/genetics
AD Institut national de la sante et de la recherche medicale U466 and Department of Pathology, Rangueil Hospital, Toulouse, France. caline.basset@libertysurf.fr
SP englisch
PO USA