Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease

Neuropathology : Official Journal of the Japanese Society of Neuropathology
Anna S BerghoffGabor G Kovács

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.

References

Jan 15, 2004·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Junko Takahashi-Fujigasaki
Sep 30, 2004·Journal of Neuropathology and Experimental Neurology·Yuko SaitoShigeo Murayama
Feb 1, 2008·Brain : a Journal of Neurology·Isidro FerrerFred W van Leeuwen
Oct 17, 2009·Brain Pathology·John WoulfeIan R A Mackenzie
Jul 30, 2010·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Fumiaki MoriKoichi Wakabayashi
Sep 3, 2011·Neuropathology and Applied Neurobiology·F MoriK Wakabayashi
Feb 10, 2012·Journal of Neuropathology and Experimental Neurology·Gabor G KovacsLajos László
Aug 7, 2012·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Ellen GelpiRaquel Sanchez-Valle

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Citations

Feb 6, 2016·International Journal of Molecular Sciences·Gabor G Kovacs
Jul 6, 2016·Brain Pathology·Gabor G KovacsBeata Sikorska
May 14, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·R WurmG G Kovacs
Aug 11, 2020·Annals of Clinical and Translational Neurology·Zhongbo ChenHenry Houlden
Jul 25, 2019·Neurología : publicación oficial de la Sociedad Española de Neurología·A Robles Bayón

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