title: Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease.
abstract: We describe an atypical neuropathological phenotype of sporadic Creutzfeldt-Jakob disease in a 76-year-old man. The clinical symptoms were characterized by progressive dementia, gait ataxia, rigidity and urinary incontinence. The disease duration was 6 weeks. MRI did not show prominent atrophy or hyperintensities in cortical areas, striatum or thalamus. Biomarker examination of the cerebrospinal fluid deviated from that seen in pure Alzheimer's disease. Triphasic waves in the EEG were detected only later in the disease course, while 14-3-3 assay was positive. PRNP genotyping revealed methionine homozygosity (MM) at codon 129. Neuropathology showed classical CJD changes corresponding to the MM type 1 cases. However, a striking feature was the presence of abundant kuru-type plaques in the white matter. This rare morphology was associated with neuropathological signs of intranuclear inclusion body disease and advanced stage of argyrophilic grain disease. These alterations did not show correlation with each other, thus seemed to develop independently. This case further highlights the complexity of neuropathological alterations in the ageing brain.
authors.affiliation: Institute of Neurology and Austrian Reference Center for Human Prion Diseases, Medical University of Vienna, Vienna, Austria.
authors.forename: Anna S
authors.initials: AS
authors.lastname: Berghoff
authors.affiliation: Landesklinikum Weinviertel, Mistelbach-Gänserndorf, Austria.
authors.forename: Anita
authors.initials: A
authors.lastname: Trummert
authors.affiliation: Institute of Neurology and Austrian Reference Center for Human Prion Diseases, Medical University of Vienna, Vienna, Austria.
authors.forename: Ursula
authors.initials: U
authors.lastname: Unterberger
authors.affiliation: Institute of Neurology and Austrian Reference Center for Human Prion Diseases, Medical University of Vienna, Vienna, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Ströbel
authors.affiliation: Department of Neuropathology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Tibor
authors.initials: T
authors.lastname: Hortobágyi
authors.affiliation: Institute of Neurology and Austrian Reference Center for Human Prion Diseases, Medical University of Vienna, Vienna, Austria.
authors.forename: Gabor G
authors.initials: GG
authors.lastname: Kovacs
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D016643:Encephalopathy, Bovine Spongiform / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D045586:Intranuclear Inclusion Bodies / Q000473:pathology; D007729:Kuru / Q000150:complications / Q000473:pathology*; D008297:Male; D008715:Methionine / Q000235:genetics; D010641:Phenotype; D024801:Tauopathies / Q000150:complications / Q000473:pathology*; D066127:White Matter / Q000473:pathology*
chemical_list: D008715:Methionine
keywords: Creutzfeldt-Jakob disease; argyrophilic grain disease; intranuclear inclusion body disease; kuru plaque; prion