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Unraveling the clinical-pathological correlations of subjects with isolated and mixed neurodegenerative processes in the National Alzheimer's Coordinating Center dataset.
J Neuropathol Exp Neurol
December 2024
Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Although Alzheimer disease neuropathologic change (ADNC) is the most common pathology underlying clinical dementia, the presence of multiple comorbid neuropathologies is increasingly being recognized as a major contributor to the worldwide dementia burden. We analyzed 1051 subjects with specific combinations of isolated and mixed pathologies and conducted multivariate logistic regression analysis on a cohort of 4624 cases with mixed pathologies to systematically explore the independent cognitive contributions of each pathology. Alzheimer disease neuropathologic change and limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) were both associated with a primary clinical diagnosis of Alzheimer disease (AD) and were characterized by an amnestic dementia phenotype, while only ADNC associated with logopenic variant primary progressive aphasia (PPA).
View Article and Find Full Text PDFRapid Cognitive Deterioration in Progressive Supranuclear Palsy: A 1-Year Follow-Up Study.
Mov Disord Clin Pract
December 2024
Department of Neurology, National Clinical Research Center for Aging and Medicine, & National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Background: Nowadays, cognitive impairment has been characterized as one of the most vital clinical symptoms in progressive supranuclear palsy (PSP).
Objectives: Based on a relatively large cohort, we aimed to show the cognitive deterioration in different PSP subtypes during 1-year follow-up and investigate potential contributors for disease prognosis.
Methods: One hundred seventeen patients from Progressive Supranuclear Palsy Neuroimage Initiative (PSPNI) cohort underwent neuropsychological tests and 1-year follow-up, with 73 diagnosed as PSP-Richardson syndrome (PSP-RS) and 44 as PSP-non-RS.
Iron(ing) out parkinsonisms: The interplay of proteinopathy and ferroptosis in Parkinson's disease and tau-related parkinsonisms.
Redox Biol
December 2024
Department of Pathology and Medical Biology, University Medical Centre Groningen (UMCG), Hanzeplein 1, 9713 GZ, Groningen, the Netherlands.
Parkinsonian syndromes are characterised by similar motor-related symptomology resulting from dopaminergic neuron damage. While Parkinson's disease (PD) is the most prevalent parkinsonism, we also focus on two other variants, Progressive supranuclear palsy (PSP) and Corticobasal degeneration (CBD). Due to the clinical similarities of these parkinsonisms, and since definite diagnoses are only possible post-mortem, effective therapies and novel biomarkers of disease are scarce.
View Article and Find Full Text PDFFlattened red nucleus in progressive supranuclear palsy detected by quantitative susceptibility mapping.
Parkinsonism Relat Disord
December 2024
Department of Neurology, Fujita Health University School of Medicine, Toyoake, Japan. Electronic address:
Introduction: Progressive supranuclear palsy (PSP) involves midbrain structures, including the red nucleus (RN), an iron-rich region that appears as a high-contrast area on quantitative susceptibility mapping (QSM). RN may serve as a promising biomarker for differentiating parkinsonism. However, RN deformation in PSP remains elusive.
View Article and Find Full Text PDFHeterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.
Neurocase
December 2024
First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece.
Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.
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