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White matter hyperintensities and TDP-43 pathology in Alzheimer's disease.
Alzheimers Dement
January 2025
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Introduction: Greater white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI) are seen with transactive response DNA-binding protein 43 (TDP-43) pathology in frontotemporal lobar degeneration (FTLD-TDP). WMH associations with TDP-43 pathology in Alzheimer's disease (AD-TDP) remain unclear.
Methods: A total of 157 participants from Mayo Clinic Rochester with autopsy-confirmed AD, known TDP-43 status, and antemortem fluid-attenuated inversion recovery (FLAIR) MRI were included.
Longitudinal FDG-PET Metabolic Change Along the Lewy Body Continuum.
JAMA Neurol
January 2025
Department of Radiology, Mayo Clinic, Rochester, Minnesota.
Importance: Although 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) is a well-established cross-sectional biomarker of brain metabolism in dementia with Lewy bodies (DLB), the longitudinal change in FDG-PET has not been characterized.
Objective: To investigate longitudinal FDG-PET in prodromal DLB and DLB, including a subsample with autopsy data, and report estimated sample sizes for a hypothetical clinical trial in DLB.
Design, Setting, And Participants: Longitudinal case-control study with mean (SD) follow-up of 3.
Epigenetic and Metabolic Landscape of Dementia with Lewy Bodies.
Mov Disord
December 2024
Department of Metabolomics, Corewell Health Research Institute, Royal Oak, Michigan, USA.
Background: Lewy body diseases, including dementia with Lewy bodies (DLB), are characterized by α-synuclein accumulation, leading to dementia. Previous studies suggest distinct epigenetic and metabolomic profiles in DLB.
Objective: This study aims to identify diagnostic biomarkers by analyzing the methylome and metabolome in the Brodmann area 7 of postmortem brain tissues from DLB patients and control subjects using multiomics approaches.
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.
Neurol Genet
February 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, FL.
Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.
Methods: Data and imaging were obtained from the patient's medical records.
Chronic Lymphocytic Leukemia Infiltrating in the Brain.
Cureus
November 2024
Neurology, Mayo Clinic, Rochester, USA.
While earlier post-mortem studies show involvement of the central nervous system in 71% of patients with chronic lymphocytic leukemia (CLL), involvement intravitam is rare. A 72-year-old man with untreated, minimally symptomatic CLL developed subacute-onset encephalopathy and presented with severe hyponatremia and stress-induced cardiomyopathy. His initial head computed tomography scan was unremarkable.
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