keyword
https://read.qxmd.com/read/38532826/neuropathology-and-epilepsy-surgery-2024-update
#1
JOURNAL ARTICLE
Ingmar Blümcke
Neuropathology-based studies in neurosurgically resected brain tissue obtained from carefully examined patients with focal epilepsies remain a treasure box for excellent insights into human neuroscience, including avenues to better understand the neurobiology of human brain organization and neuronal hyperexcitability at the cellular level including glio-neuronal interaction. It also allows to translate results from animal models in order to develop personalized treatment strategies in the near future. A nice example of this is the discovery of a new disease entity in 2017, termed mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy or MOGHE, in the frontal lobe of young children with intractable seizures...
January 2024: Free neuropathology
https://read.qxmd.com/read/38500873/case-report-rapidly-progressive-neurocognitive-disorder-with-a-fatal-outcome-in-a-patient-with-pu-1-mutated-agammaglobulinemia
#2
Rada Miskovic, Jelena Ljubicic, Branka Bonaci-Nikolic, Ana Petkovic, Vladana Markovic, Ivan Rankovic, Jelena Djordjevic, Ana Stankovic, Kristel Klaassen, Sonja Pavlovic, Maja Stojanovic
INTRODUCTION: PU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer transcription factor important for the maturation of monocytes, B lymphocytes, and conventional dendritic cells. Only six cases with PU.MA, presenting with chronic sinopulmonary and systemic enteroviral infections, have been previously described. Accumulating literature evidence suggests a possible relationship between SPI1 mutation, microglial phagocytic dysfunction, and the development of Alzheimer's disease (AD)...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38405911/multi-omics-characterization-of-epigenetic-and-genetic-risk-of-alzheimer-disease-in-autopsied-brains-from-two-ethnic-groups
#3
Yiyi Ma, Dolly Reyes-Dumeyer, Angel Piriz, Patricia Recio, Diones Rivera Mejia, Martin Medrano, Rafael A Lantigua, Jean Paul G Vonsattel, Giuseppe Tosto, Andrew F Teich, Benjamin Ciener, Sandra Leskinen, Sharanya Sivakumar, Michael DeTure, Duara Ranjan, Dennis Dickson, Melissa Murray, Edward Lee, David A Wolk, Lee-Way Jin, Brittany N Dugger, Annie Hiniker, Robert A Rissman, Richard Mayeux, Badri N Vardarajan
BACKGROUND: Both genetic variants and epigenetic features contribute to the risk of Alzheimer's disease (AD). We studied the AD association of CpG-related single nucleotide polymorphisms (CGS), which act as the hub of both the genetic and epigenetic effects, in Hispanics decedents and generalized the findings to Non-Hispanic Whites (NHW) decedents. METHODS: First, we derived the dosage of the CpG site-creating allele of multiple CGSes in each 1 KB window across the genome and we conducted a sliding window association test with clinical diagnosis of AD in 7,155 Hispanics (3,194 cases and 3,961 controls) using generalized linear mixed models with the adjustment of age, sex, population structure, genomic relationship matrix, and genotyping batches...
February 14, 2024: medRxiv
https://read.qxmd.com/read/38389095/phenotypically-concordant-distribution-of-pick-bodies-in-aphasic-versus-behavioral-dementias
#4
JOURNAL ARTICLE
Allegra Kawles, Rachel Keszycki, Grace Minogue, Antonia Zouridakis, Ivan Ayala, Nathan Gill, Alyssa Macomber, Vivienne Lubbat, Christina Coventry, Emily Rogalski, Sandra Weintraub, Qinwen Mao, Margaret E Flanagan, Hui Zhang, Rudolph Castellani, Eileen H Bigio, M-Marsel Mesulam, Changiz Geula, Tamar Gefen
Pick's disease (PiD) is a subtype of the tauopathy form of frontotemporal lobar degeneration (FTLD-tau) characterized by intraneuronal 3R-tau inclusions. PiD can underly various dementia syndromes, including primary progressive aphasia (PPA), characterized by an isolated and progressive impairment of language and left-predominant atrophy, and behavioral variant frontotemporal dementia (bvFTD), characterized by progressive dysfunction in personality and bilateral frontotemporal atrophy. In this study, we investigated the neocortical and hippocampal distributions of Pick bodies in bvFTD and PPA to establish clinicopathologic concordance between PiD and the salience of the aphasic versus behavioral phenotype...
February 22, 2024: Acta Neuropathologica Communications
https://read.qxmd.com/read/38325063/disrupted-social-perception-in-frontotemporal-dementia-and-alzheimer-s-disease-associated-cognitive-processes-and-clinical-implications
#5
JOURNAL ARTICLE
Nikki-Anne Wilson, Rebekah Ahmed, Olivier Piguet, Muireann Irish
BACKGROUND: Social perception refers to the ability to adapt and update one's behaviour in accordance with the current context and provides the foundation for many complex social and emotional interactions. Alterations in social cognition are a hallmark of the behavioural variant of frontotemporal dementia (bvFTD), yet the capacity for social perception in this syndrome remains unclear. METHODS: We examined social perception in 18 bvFTD and 13 Alzheimer's disease (AD) patients, in comparison with 17 healthy older controls, using a social perception task derived from the Dewey Story Test...
January 24, 2024: Journal of the Neurological Sciences
https://read.qxmd.com/read/38312533/more-similar-than-different-memory-executive-functions-cortical-thickness-and-glucose-metabolism-in-biomarker-positive-alzheimer-s-disease-and-behavioral-variant-frontotemporal-dementia
#6
JOURNAL ARTICLE
Cierra M Keith, Marc W Haut, Pierre-François D'Haese, Rashi I Mehta, Camila Vieira Ligo Teixeira, Michelle M Coleman, Mark Miller, Melanie Ward, R Osvaldo Navia, Gary Marano, Xiaofei Wang, William T McCuddy, Katharine Lindberg, Kirk C Wilhelmsen
BACKGROUND: Alzheimer's disease (AD) and behavioral variant frontotemporal dementia (bvFTD) are typically associated with very different clinical and neuroanatomical presentations; however, there is increasing recognition of similarities. OBJECTIVE: To examine memory and executive functions, as well as cortical thickness, and glucose metabolism in AD and bvFTD signature brain regions. METHODS: We compared differences in a group of biomarker-defined participants with Alzheimer's disease and a group of clinically diagnosed participants with bvFTD...
2024: JAD Reports
https://read.qxmd.com/read/38286395/clinical-and-cortical-trajectories-in-non-fluent-primary-progressive-aphasia-and-alzheimer-s-disease-a-role-for-emotion-processing
#7
JOURNAL ARTICLE
Ramon Landin-Romero, Fiona Kumfor, Austin Ys Lee, Cristian Leyton, Olivier Piguet
OBJECTIVES: To examine the clinical trajectories and neural correlates of cognitive and emotion processing changes in the non-fluent/agrammatic (nfvPPA) and the logopenic (lvPPA) variants of primary progressive aphasia (PPA). DESIGN: Observational case-control longitudinal cohort study. SETTING: Research clinic of frontotemporal dementia. PARTICIPANTS: This study recruited 29 non-semantic PPA patients (15 nfvPPA and 14 lvPPA) and compared them with 15 Alzheimer's disease (AD) patients and 14 healthy controls...
January 28, 2024: Brain Research
https://read.qxmd.com/read/38284802/more-than-a-piece-of-cake-noun-classifier-processing-in-primary-progressive-aphasia
#8
JOURNAL ARTICLE
Boon Lead Tee, Lorinda Kwan-Chen Li-Ying, Ta-Fu Chen, Connie Ty Yan, Joshua Tsoh, Andrew Lung-Tat Chan, Adrian Wong, Raymond Y Lo, Chien Jung Lu, Yu Sun, Pei-Ning Wang, YiChen Lee, Ming-Jang Chiu, Isabel Elaine Allen, Giovanni Battistella, Thomas H Bak, Yu-Chen Chuang, Adolfo M García, Maria Luisa Gorno-Tempini
INTRODUCTION: Clinical understanding of primary progressive aphasia (PPA) has been primarily derived from Indo-European languages. Generalizing certain linguistic findings across languages is unfitting due to contrasting linguistic structures. While PPA patients showed noun classes impairments, Chinese languages lack noun classes. Instead, Chinese languages are classifier language, and how PPA patients manipulate classifiers is unknown. METHODS: We included 74 native Chinese speakers (22 controls, 52 PPA)...
January 29, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/38183333/sleep-and-circadian-rhythm-disruptions-in-behavioral-variant-frontotemporal-dementia
#9
JOURNAL ARTICLE
Marco Filardi, Valentina Gnoni, Ludovica Tamburrino, Salvatore Nigro, Daniele Urso, Davide Vilella, Benedetta Tafuri, Alessia Giugno, Roberto De Blasi, Stefano Zoccolella, Giancarlo Logroscino
INTRODUCTION: Sleep and rest-activity rhythm alterations are common in neurodegenerative diseases. However, their characterization in patients with behavioral variant frontotemporal dementia (bvFTD) has proven elusive. We investigated rest-activity rhythm alterations, sleep disturbances, and their neural correlates in bvFTD. METHODS: Twenty-seven bvFTD patients and 25 healthy controls completed sleep questionnaires and underwent 7 days of actigraphy while concurrently maintaining a sleep diary...
January 6, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/38135866/association-between-wnt-target-genes-and-cortical-volumes-in-alzheimer-s-disease
#10
JOURNAL ARTICLE
Liling Dong, Bo Hou, Caiyan Liu, Chenhui Mao, Xinying Huang, Li Shang, Shanshan Chu, Bin Peng, Liying Cui, Feng Feng, Jing Gao
The disproportionate cortical atrophy is an established biomarker for the pathophysiological process of Alzheimer's disease (AD). However, the genetic basis underlying the cortical atrophy remains poorly defined. Herein, we aim to illustrate the effect of the Wnt target genes on the cortical volumes of AD patients. 82 sporadic AD patients were recruited. All the subjects had history survey, blood biochemical examination, cognitive assessment, MRI morphometry and whole exome sequencing. This report focused on 84 common variants (minor allele frequency > 0...
December 23, 2023: Journal of Molecular Neuroscience: MN
https://read.qxmd.com/read/38102724/the-neural-substrates-of-transdiagnostic-cognitive-linguistic-heterogeneity-in-primary-progressive-aphasia
#11
JOURNAL ARTICLE
Siddharth Ramanan, Ajay D Halai, Lorna Garcia-Penton, Alistair G Perry, Nikil Patel, Katie A Peterson, Ruth U Ingram, Ian Storey, Stefano F Cappa, Eleonora Catricala, Karalyn Patterson, James B Rowe, Peter Garrard, Matthew A Lambon Ralph
BACKGROUND: Clinical variants of primary progressive aphasia (PPA) are diagnosed based on characteristic patterns of language deficits, supported by corresponding neural changes on brain imaging. However, there is (i) considerable phenotypic variability within and between each diagnostic category with partially overlapping profiles of language performance between variants and (ii) accompanying non-linguistic cognitive impairments that may be independent of aphasia magnitude and disease severity...
December 16, 2023: Alzheimer's Research & Therapy
https://read.qxmd.com/read/37961404/a-public-resource-of-single-cell-transcriptomes-and-multiscale-networks-from-persons-with-and-without-alzheimer-s-disease
#12
Qi Wang, Jerry Antone, Eric Alsop, Rebecca Reiman, Cory Funk, Jaroslav Bendl, Joel T Dudley, Winnie S Liang, Timothy L Karr, Panos Roussos, David A Bennett, Philip L De Jager, Geidy E Serrano, Thomas G Beach, Kendall Van Keuren-Jensen, Diego Mastroeni, Eric M Reiman, Benjamin P Readhead
The emergence of technologies that can support high-throughput profiling of single cell transcriptomes offers to revolutionize the study of brain tissue from persons with and without Alzheimer's disease (AD). Integration of these data with additional complementary multiomics data such as genetics, proteomics and clinical data provides powerful opportunities to link observed cell subpopulations and molecular network features within a broader disease-relevant context. We report here single nucleus RNA sequencing (snRNA-seq) profiles generated from superior frontal gyrus cortical tissue samples from 101 exceptionally well characterized, aged subjects from the Banner Brain and Body Donation Program in combination with whole genome sequences...
October 24, 2023: bioRxiv
https://read.qxmd.com/read/37908186/detection-of-tdp-43-seeding-activity-in-the-olfactory-mucosa-from-patients-with-frontotemporal-dementia
#13
JOURNAL ARTICLE
Elena Fontana, Matilde Bongianni, Alberto Benussi, Erika Bronzato, Carlo Scialo, Luca Sacchetto, Annachiara Cagnin, Santina Castriciano, Emanuele Buratti, Fabrizio Gardoni, Maria Italia, Alberto Schreiber, Chiara Ferracin, Michele Fiorini, Kathy L Newell, Laura Cracco, Holly J Garringer, Maria Paola Cecchini, Magdalini Polymenidou, Alessandro Padovani, Salvatore Monaco, Giuseppe Legname, Bernardino Ghetti, Barbara Borroni, Gianluigi Zanusso
INTRODUCTION: We assessed TAR DNA-binding protein 43 (TDP-43) seeding activity and aggregates detection in olfactory mucosa of patients with frontotemporal lobar degeneration with TDP-43-immunoreactive pathology (FTLD-TDP) by TDP-43 seeding amplification assay (TDP43-SAA) and immunocytochemical analysis. METHODS: The TDP43-SAA was optimized using frontal cortex samples from 16 post mortem cases with FTLD-TDP, FTLD with tau inclusions, and controls. Subsequently, olfactory mucosa samples were collected from 17 patients with FTLD-TDP, 15 healthy controls, and three patients carrying MAPT variants...
October 31, 2023: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/37872794/behavioural-variant-frontotemporal-dementia-due-to-ccnf-gene-mutation-a-case-report
#14
Feng-Ling You, Gao-Fu Xia, Jing Cai
BACKGROUND: Frontal, temporal lobe dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases. Studies have found that CCNF mutations have been found in patients with familial and sporadic ALS and FTD. Behavioural variant frontotemporal dementia (bvFTD) is a clinical syndrome characterized by progressive deterioration of personality, social behaviour, and cognitive function, which is most closely related to genetic factors. As the early symptoms of bvFTD are highly heterogeneous, the condition is often misdiagnosed as Alzheimer's disease or psychiatric disorders...
2023: Current Alzheimer Research
https://read.qxmd.com/read/37849632/neurosyphilis-initially-misdiagnosed-as-behavioral-variant-frontotemporal-dementia-life-changing-differential-diagnosis
#15
JOURNAL ARTICLE
Michitaka Funayama, Shin Kuramochi, Shun Kudo
Diagnosing neurosyphilis can be challenging and it may be misdiagnosed as behavior variant frontotemporal dementia, given its affinity for the frontal and temporal lobes. Here we present a model case, who, in his 40 s, was initially misdiagnosed with behavioral variant frontotemporal dementia based on extreme self-neglect and disinhibition over six months and frontal lobe atrophy. He was later diagnosed as neurosyphilis with positive syphilis tests in his cerebrospinal fluid. He underwent penicillin treatment and fully recovered...
2023: JAD Reports
https://read.qxmd.com/read/37807152/a-34-a-suspected-case-of-early-onset-frontal-variant-of-alzheimer-s-disease-in-a-64-year-old-male
#16
JOURNAL ARTICLE
Alphonso Smith, Xavier Bledsoe
OBJECTIVE: Early-onset frontal variant of Alzheimer's disease (fvAD) is characterized by apathy, disinhibition, and executive dysfunction. As such, fvAD is often difficult to clinically distinguish from behavioral variant frontotemporal dementia (bvFTD). However, research suggests that a differentiating feature among the two conditions is that fvAD typically presents with more pronounced memory impairment. Therefore, neuropsychological testing in the context of a comprehensive multidisciplinary assessment can be a valuable tool to aid with differential diagnosis...
October 8, 2023: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://read.qxmd.com/read/37668827/application-of-the-mild-behavioral-impairment-checklist-in-chinese-patients-with-the-behavioral-variant-of-frontotemporal-dementia
#17
JOURNAL ARTICLE
Yue Cui, Li Liu, Min Chu, Kexin Xie, Zhongyun Chen, Haitian Nan, Yu Kong, Tianxinyu Xia, Yingtao Wang, Yihao Wang, Qianqian He, Liyong Wu
BACKGROUND: The mild behavioral impairment checklist (MBI-C) designed to capture neuropsychiatric symptoms in the whole spectrum of elder with or without dementia, have been verified in mild behavioral impairment, mild cognitive impairment and Alzheimer's Disease, but never used in the behavioral variant of frontotemporal dementia (bvFTD). METHODS: Fifty-two patients with bvFTD (mild, n = 30; moderate-severe, n = 22) and 82 community-dwelling elderly individuals (HCs) were enrolled...
September 5, 2023: Neurological Sciences
https://read.qxmd.com/read/37572194/diffusion-and-structural-mri-as-potential-biomarkers-in-people-with-parkinson-s-disease-and-cognitive-impairment
#18
JOURNAL ARTICLE
Chun-Chao Huang, Pei-Hao Chen, Chih-Chien Tsai, Hsin-Fan Chiang, Cheng-Chih Hsieh, Ting-Lin Chen, Wei-Hsin Liao, Yao-Liang Chen, Jiun-Jie Wang
OBJECTIVE: To explore the neuroimage change in Parkinson's disease (PD) patients with cognitive impairments, this study investigated the correlation between plasma biomarkers and morphological brain changes in patients with normal cognition and mild cognitive impairment. The objective was to identify the potential target deposition regions of the plasma biomarkers and to search for the relevant early neuroimaging biomarkers on the basis of different cognitive domains. METHODS: Structural brain MRI and diffusion weighted images were analyzed from 49 eligible PD participants (male/female: 27/22; mean age: 73...
August 12, 2023: European Radiology
https://read.qxmd.com/read/37533060/presymptomatic-and-early-pathological-features-of-mapt-associated-frontotemporal-lobar-degeneration
#19
JOURNAL ARTICLE
Lucia Aa Giannini, Merel O Mol, Ana Rajicic, Renee van Buuren, Lana Sarkar, Sanaz Arezoumandan, Daniel T Ohm, David J Irwin, Annemieke Jm Rozemuller, John C van Swieten, Harro Seelaar
Early pathological features of frontotemporal lobar degeneration (FTLD) due to MAPT pathogenic variants (FTLD-MAPT) are understudied, since early-stage tissue is rarely available. Here, we report unique pathological data from three presymptomatic/early-stage MAPT variant carriers (FTLD Clinical Dementia Rating [FTLD-CDR] = 0-1). We examined neuronal degeneration semi-quantitatively and digitally quantified tau burden in 18 grey matter (9 cortical, 9 subcortical) and 13 white matter (9 cortical, 4 subcortical) regions...
August 2, 2023: Acta Neuropathologica Communications
https://read.qxmd.com/read/37511491/frontotemporal-dementia-where-do-we-stand-a-narrative-review
#20
REVIEW
Annibale Antonioni, Emanuela Maria Raho, Piervito Lopriore, Antonia Pia Pace, Raffaela Rita Latino, Martina Assogna, Michelangelo Mancuso, Daniela Gragnaniello, Enrico Granieri, Maura Pugliatti, Francesco Di Lorenzo, Giacomo Koch
Frontotemporal dementia (FTD) is a neurodegenerative disease of growing interest, since it accounts for up to 10% of middle-age-onset dementias and entails a social, economic, and emotional burden for the patients and caregivers. It is characterised by a (at least initially) selective degeneration of the frontal and/or temporal lobe, generally leading to behavioural alterations, speech disorders, and psychiatric symptoms. Despite the recent advances, given its extreme heterogeneity, an overview that can bring together all the data currently available is still lacking...
July 21, 2023: International Journal of Molecular Sciences
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