2,318 results match your criteria: "Cortical Basal Ganglionic Degeneration"
JAMA Netw Open
April 2024
Department of Neurology, Memory and Aging Center, Weill Institute for Neurosciences, University of California, San Francisco.
J Neurol
June 2024
Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931, Cologne, Germany.
Tauopathies are a heterogeneous group of neurologic diseases characterized by pathological axodendritic distribution, ectopic expression, and/or phosphorylation and aggregation of the microtubule-associated protein TAU, encoded by the gene MAPT. Neuronal dysfunction, dementia, and neurodegeneration are common features of these often detrimental diseases. A neurodegenerative disease is considered a primary tauopathy when MAPT mutations/haplotypes are its primary cause and/or TAU is the main pathological feature.
View Article and Find Full Text PDFActa Neuropathol Commun
March 2024
Department of Neuropathology (Brain Bank for Aging Research), Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan.
Recent studies suggest that increased cerebrospinal fluid (CSF) phospho-tau is associated with brain amyloid pathology rather than the tau pathology. However, confirmation using gold standard neuropathological assessments remains limited. This study aimed to determine background pathologies associated with aberrant CSF p-tau181 and amyloid-beta 1-42 (Aβ42) in Alzheimer's disease (AD) and other neurodegenerative diseases.
View Article and Find Full Text PDFActa Neuropathol
March 2024
Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Annenberg Building, 15.238, 1468 Madison Avenue, New York, NY, 10029, USA.
Neurodegenerative pathologies such as Alzheimer disease neuropathologic change (ADNC), Lewy body disease (LBD), limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC), and cerebrovascular disease (CVD) frequently coexist, but little is known about the exact contribution of each pathology to cognitive decline and dementia in subjects with mixed pathologies. We explored the relative cognitive impact of concurrent common and rare neurodegenerative pathologies employing multivariate logistic regression analysis adjusted for age, gender, and level of education. We analyzed a cohort of 6,262 subjects from the National Alzheimer's Coordinating Center database, ranging from 0 to 6 comorbid neuropathologic findings per individual, where 95.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
August 2024
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
Background: Primary progressive aphasia (PPA) defines a group of neurodegenerative disorders characterised by language decline. Three PPA variants correlate with distinct underlying pathologies: semantic variant PPA (svPPA) with transactive response DNA-binding protein of 43 kD (TDP-43) proteinopathy, agrammatic variant PPA (agPPA) with tau deposition and logopenic variant PPA (lvPPA) with Alzheimer's disease (AD). Our objectives were to differentiate PPA variants using clinical and neuroimaging features, assess progression and evaluate structural MRI and a novel 18-F fluorodeoxyglucose positron emission tomography (FDG-PET) image decomposition machine learning algorithm for neuropathology prediction.
View Article and Find Full Text PDFMethods Mol Biol
March 2024
Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia.
Mutation of MAPT has been observed in patients with parkinsonism, progressive supranuclear palsy, and corticobasal degeneration and is a significant cause of frontotemporal dementia. In this chapter, we discuss considerations for next-generation sequencing analysis to identify MAPT mutations in patient genomic DNA and describe the validation of these mutations by Sanger sequencing. One of the most common effects of MAPT mutations is differential splicing of exon 10, which leads to an imbalance in the proportion of 3-repeat and 4-repeat tau isoforms.
View Article and Find Full Text PDFParkinsonism Relat Disord
May 2024
Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona, Barcelona, Catalonia, Spain; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, UBNeuro, Universitat de Barcelona, Barcelona, Catalonia, Spain. Electronic address:
The hypothesis that neurodegenerative diseases are proteinopathies due to toxic effect of different underlying proteins, such as amyloid-beta and 3+4R-tau in Alzheimer's disease (AD) and alpha-synuclein in Parkinson's disease (PD), while still controversial is supported by several studies in the literature. This has led to conduct clinical trials attempting to reduce the load of these allegedly toxic proteins by immunotherapy, mostly but not solely based on antibodies against these proteins. Already completed clinical trials have ranged from initially negative results to recently partial positive outcomes, specifically for anti-amyloid antibodies in AD but also albeit to lesser degree for anti-synuclein antibodies in PD.
View Article and Find Full Text PDFCogn Behav Neurol
March 2024
Department of Pathology, St Michael's Hospital, Toronto, Ontario, Canada.
We present a review of the definition, classification, and epidemiology of primary progressive aphasia (PPA); an update of the taxonomy of the clinical syndrome of PPA; and recent advances in the neuroanatomy, pathology, and genetics of PPA, as well as the search for biomarkers and treatment. PPA studies that have contributed to concepts of language organization and disease propagation in neurodegeneration are also reviewed. In addition, the issues of heterogeneity versus the relationships of the clinical phenotypes and their relationship to biological, pathological, and genetic advances are discussed, as is PPA's relationship to other conditions such as frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, Pick disease, and amyotrophic lateral sclerosis.
View Article and Find Full Text PDFBackground: Tauopathies are a group of age-related neurodegenerative diseases characterized by the accumulation of pathologically phosphorylated tau protein in the brain, leading to prion-like propagation and aggregation. They include Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick's disease (PiD). Currently, reliable diagnostic biomarkers that directly reflect the capability of propagation and spreading of misfolded tau aggregates in peripheral tissues and body fluids are lacking.
View Article and Find Full Text PDFParkinsonism Relat Disord
June 2024
Centre for Innovative Biomedicine and Biotechnology (CIBB), Universidade de Coimbra, Coimbra, Portugal.
Int J Mol Sci
February 2024
Institute for Medical Science of Aging, Aichi Medical University, Nagakute 480-1195, Japan.
Elderly human brains are vulnerable to multiple proteinopathies, although each protein has a different transmission pathway. Tau-immunoreactive astrocytes are well-known in elderly brains. In contrast, astrocytic plaques, a hallmark in corticobasal degeneration (CBD), rarely occur in aging and neurodegenerative disease other than CBD.
View Article and Find Full Text PDFNucl Med Biol
March 2024
Institute of Medical Science, University of Toronto, ON M5S 1A8, Canada; Brain Health Imaging Centre, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada. Electronic address:
Alzheimer's disease (AD) and non-AD tauopathies such as chronic traumatic encephalopathy (CTE), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD) are characterized by the abnormal aggregation of three-repeat (3R) and/or four-repeat (4R) tau isoforms. Several tau-PET tracers have been applied for human imaging of AD and non-AD tauopathies including [F]PI-2620. Our objective is to evaluate [H]PI-2620 and two promising structural derivatives, [H]PI-2014 and [H]F-4, using in vitro saturation assays and competitive binding assays against new chemical entities based on this scaffold in human AD tissues for comparison with PSP, CBD and CTE tissues.
View Article and Find Full Text PDFBrain Pathol
July 2024
Laboratory of Genetics, Hospital Universitario Central de Asturias, Oviedo, Spain.
J Neuropathol Exp Neurol
March 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
The pathobiology of tau is of great importance for understanding the mechanisms of neurodegeneration in aging and age-associated disorders such as Alzheimer disease (AD) and frontotemporal dementias. It is critical to identify neuronal populations and brain regions that are vulnerable or resistant to tau pathological changes. Pick disease (PiD) is a three-repeat (3R) tauopathy that belongs to the group of frontotemporal lobar degenerations.
View Article and Find Full Text PDFClin Park Relat Disord
February 2024
Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Tokyo, Japan.
Introduction: The present study characterized the degeneration of nigrostriatal dopaminergic neurons in the early stages of parkinsonian disorders using integrative neuroimaging analysis with neuromelanin-sensitive MRI and I-FP-CIT dopamine transporter (DAT) SPECT.
Methods: Thirty-one, 30, and 29 patients with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS) with abnormal specific binding ratio (SBR) in either hemisphere (mean ± 2SD), and parkinsonism-predominant multiple system atrophy (MSA-P), respectively, were enrolled. Neuromelanin-related contrast (NRC) in the substantia nigra (NRC) and locus coeruleus (NRC) and the SBR of DAT SPECT were measured.
Mov Disord Clin Pract
May 2024
Institute of Applied Health Sciences, University of Aberdeen, Aberdeen, United Kingdom.
Background: Early diagnosis in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) is important for clinical care and key to developing successful disease-modifying agents. The patient-dependent phases of decision-making made before contact with a healthcare professional have been inadequately studied.
Objectives: To evaluate the patient-dependent phases of decision-making from symptom onset, comparing this to clinician and/or health system delays within the overall diagnostic pathway.
Nat Commun
February 2024
Switch Laboratory, VIB Center for Brain and Disease Research, Herestraat 49, 3000, Leuven, Belgium.
Tauopathies encompass a group of neurodegenerative disorders characterised by diverse tau amyloid fibril structures. The persistence of polymorphism across tauopathies suggests that distinct pathological conditions dictate the adopted polymorph for each disease. However, the extent to which intrinsic structural tendencies of tau amyloid cores contribute to fibril polymorphism remains uncertain.
View Article and Find Full Text PDFBiol Psychiatry
June 2024
Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, University of Bari Aldo Moro, Pia Fondazione Cardinale G. Panico, Tricase, Italy; Department of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Bari, Italy. Electronic address:
Background: Cognitive changes are common in corticobasal syndrome (CBS) and significantly impact quality of life and caregiver burden. However, relatively few studies have investigated the neural substrates of cognitive changes in CBS, and reliable predictors of cognitive impairment are currently lacking. The nucleus basalis of Meynert (NbM), which serves as the primary source of cortical cholinergic innervation, has been functionally associated with cognition.
View Article and Find Full Text PDFMetab Brain Dis
April 2024
BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its biological pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature.
View Article and Find Full Text PDFNeuropathology
August 2024
Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Although the initial symptoms of corticobasal degeneration (CBD) are varied, psychiatric symptoms are uncommon. Here, we report the autopsy findings of a patient with early CBD who presented with hallucinations. A 68-year-old man developed memory loss and visions of bears and insects.
View Article and Find Full Text PDFBMJ Neurol Open
January 2024
Monash University Central Clinical School, Melbourne, Victoria, Australia.
Introduction: Atypical parkinsonian syndromes (APS) are rare neurodegenerative syndromes for which parkinsonism is one significant feature. APS includes progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal syndrome (CBS). The diagnosis of APS remains reliant on clinical features with no available diagnostic or prognostic biomarker.
View Article and Find Full Text PDFAgeing Res Rev
February 2024
Department of Psychiatry, School of Clinical Medicine, Addenbrooke's Hospital, University of Cambridge, United Kingdom. Electronic address:
Positron emission tomography (PET) with radiotracers that bind to synaptic vesicle glycoprotein 2 A (SV2A) enables quantification of synaptic density in the living human brain. Assessing the regional distribution and severity of synaptic density loss will contribute to our understanding of the pathological processes that precede atrophy in neurodegeneration. In this systematic review, we provide a discussion of in vivo SV2A PET imaging research for quantitative assessment of synaptic density in various dementia conditions: amnestic Mild Cognitive Impairment and Alzheimer's disease, Frontotemporal dementia, Progressive supranuclear palsy and Corticobasal degeneration, Parkinson's disease and Dementia with Lewy bodies, Huntington's disease, and Spinocerebellar Ataxia.
View Article and Find Full Text PDFAnn Clin Transl Neurol
February 2024
Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, California, 94158, USA.
J Neural Transm (Vienna)
March 2024
Institute of Clinical Neurobiology, Alberichgasse 5/13, 1150, Vienna, Austria.