Autopsy case of V180I genetic Creutzfeldt-Jakob disease presenting with early disease pathology

Neuropathology : Official Journal of the Japanese Society of Neuropathology
Yasushi IwasakiMari Yoshida

Abstract

The patient was a Japanese woman who experienced a decrease in activity and gait disturbance as the initial symptoms at the age of 86, followed by disorientation and memory dysfunction. Magnetic resonance imaging showed extensive cortical regions with hyperintensity in diffusion-weighted images, and these regions showed swelling in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images. The medial occipital cortex and striatum showed no apparent hyperintensity on diffusion-weighted imaging (DWI). Mild myoclonus was detected, and the patient died 10 months after the onset of symptoms; she did not enter the akinetic mutism state. The patient's brain weighed 1050 g, and neuropathological examination showed extensive characteristic various-sized and non-confluent (VaSNoC) vacuoles in the cerebral cortex. These vacuoles were observable macroscopically by loupe on images of hematoxylin and eosin-stained tissue. Gliosis, hypertrophic astrocytosis, and neuron loss were generally mild in character. Prion protein (PrP) immunostaining showed very mild diffuse-synaptic-type PrP deposition in the cerebral gray matter. These clinicopathological findings led us to several conclusions relative to the early disease pathology of V180...Continue Reading

References

Oct 31, 1991·Nature·K Doh-uraJ Tateishi
Jan 1, 1991·Acta Neuropathologica·H Braak, E Braak
Oct 3, 2003·British Medical Bulletin·Pierluigi GambettiShu G Chen
Sep 28, 2005·Human Genetics·Gábor G KovácsUNKNOWN EUROCJD
Dec 6, 2008·Journal of the Neurological Sciences·Yasushi IwasakiYoshio Hashizume
Sep 22, 2010·Brain : a Journal of Neurology·Ichiro NozakiMasahito Yamada
Jan 29, 2011·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Yasushi IwasakiYoshio Hashizume
Jul 21, 2016·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Yasushi IwasakiMari Yoshida
Dec 29, 2016·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Yasushi Iwasaki
Apr 13, 2017·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Yasushi IwasakiMari Yoshida
Jul 14, 2017·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Yasushi IwasakiMari Yoshida

❮ Previous
Next ❯

Citations

Dec 28, 2018·Brain Pathology·Simone BaiardiPiero Parchi
Apr 28, 2021·Magnetic Resonance Imaging Clinics of North America·Aya Midori TokumaruShigeo Murayma

❮ Previous
Next ❯

Related Concepts

Related Feeds

Bovine Spongiform Encephalopathy (MDS)

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.

Bovine Spongiform Encephalopathy

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Alzheimer's Disease: Neuroimaging

Neuroimaging can help identify pathological hallmarks of Alzheimer's disease (AD). Here is the latest research on neuroimaging modalities, including magnetic resonance imaging and positron emission tomography, in AD.

© 2022 Meta ULC. All rights reserved