Prion
Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Published: December 2021
Methionine/methionine type 1 (MM1-type) sporadic Creutzfeldt-Jakob disease (sCJD), known as the 'classic type,' shows typical clinicopathological sCJD findings. In general, patients reach an akinetic mutism state within a few months of disease onset and die soon after if supportive therapies are not administered. Here, we describe remarkable neuropathologic observations of MM1-type sCJD in a 48-year-old, Japanese man with an unusually prolonged akinetic mutism state. In the early disease stages, the patient exhibited abnormal behaviour with gait disturbance and rapidly progressive cognitive dysfunction. Diffusion-weighted magnetic resonance imaging revealed extensive cerebral cortical hyperintensity. Prion protein (PrP) gene analysis revealed no mutations, and the polymorphic codon 129 exhibited methionine homozygosity. Although the patient remained stable with tube feeding for more than 2 years after reaching the akinetic mutism state, he died because of central respiratory failure 30 months after disease onset. Neuropathologic investigation showed extensive devastating lesions, such as status spongiosus, and typical spongiform changes could no longer be observed in the cerebral neocortex. Conspicuous pyramidal tract degeneration was observed. However, the regions commonly preserved in MM1-type sCJD pathology were still relatively preserved. Immunostaining revealed extensive diffuse synaptic-type PrP deposition in the grey matter. The pathological findings suggested that sCJD is a neurodegenerative disease that shows system degeneration; there are primary and secondary degenerative regions and distinct preserved regions, even in cases with prolonged disease duration. In addition, it is considered that there is a limited survival period for MM1-type sCJD, even if active symptomatic treatment is provided.
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http://dx.doi.org/10.1080/19336896.2020.1868931 | DOI Listing |
Eur Radiol
December 2024
Department of Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Background: This study aimed to establish a voxel-based map to predict the occurrence of cerebellar mutism syndrome (CMS) and investigate the relationship between CMS and motor dysfunction.
Method: This multicenter study cohort included 224 patients diagnosed with medulloblastoma at Beijing Children's Hospital (n = 88) and Beijing Tiantan Hospital (n = 136). The dataset was randomly divided into training (n = 95), test (n = 41), and validation (n = 88) datasets.
J Assoc Physicians India
November 2024
Associate Professor, Department of General Medicine, Medical College Baroda, Vadodara, Gujarat, India.
J Med Invest
October 2024
Department of Neurosurgery, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan.
Intermittent clinical course of akinetic mutism is very unusual. We describe a 74-year-old man who started to demonstrate episodes of altered mental state with stopped moving and talking, poor response to commands, and muscle stiffness in both upper limbs approximately 1.5 months after cardioembolic bilateral paramedian thalamic infarction.
View Article and Find Full Text PDFColomb Med (Cali)
October 2024
Hospital Nacional Edgardo Rebagliati Martins, Departamento de Neurología, Lima, Peru.
Description Of The Cases: A series of 6 cases with a probable diagnosis of sporadic CJD, treated in a Peruvian national reference hospital, are presented.
Clinical Findings: The relevant clinical signs were rapidly progressive dementia and myoclonus, followed by akinetic mutism and pyramidal signs.
Treatment And Results: Of the cases presented, 80% were men, with an average age of presentation of 65 years and duration from diagnosis to death of 6.
Neurologist
January 2025
Department of Neurology, University of Utah.
Introduction: The C9orf72 mutation can manifest in diverse clinical ways, including rapid cognitive decline, parkinsonism, or late-life neuropsychiatric symptoms, sometimes mimicking autoimmune encephalitis.
Case Report: A 64-year-old female presented to the autoimmune neurology clinic with rapidly progressive dementia (RPD) associated with episodes of headache, confusion, auditory hallucinations, and abnormal electroencephalogram. She was treated empirically at an outside hospital for possible autoimmune encephalitis with intravenous methylprednisolone, but there was no improvement, and rapid cognitive decline continued.
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