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Corticobasal degeneration

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https://www.readbyqxmd.com/read/29622555/mri-planimetry-and-magnetic-resonance-parkinsonism-index-in-the-differential-diagnosis-of-patients-with-parkinsonism
#1
V C Constantinides, G P Paraskevas, G Velonakis, P Toulas, E Stamboulis, E Kapaki
BACKGROUND AND PURPOSE: Differential diagnosis of multiple system atrophy, progressive supranuclear palsy, and corticobasal degeneration from Parkinson disease on clinical grounds is often difficult. MR imaging biomarkers could assist in a more accurate diagnosis. We examined the utility of MR imaging surface measurements (MR imaging planimetry) in the differential diagnosis of patients with parkinsonism. MATERIALS AND METHODS: Fifty-two patients with Parkinson-plus (progressive supranuclear palsy, n = 24; corticobasal degeneration, n = 9; multiple system atrophy, n = 19), 18 patients with Parkinson disease, and 15 healthy controls were included...
April 5, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29514947/clinical-value-of-neurofilament-and-phospho-tau-tau-ratio-in-the-frontotemporal-dementia-spectrum
#2
Lieke H H Meeter, Everard G Vijverberg, Marta Del Campo, Annemieke J M Rozemuller, Laura Donker Kaat, Frank Jan de Jong, Wiesje M van der Flier, Charlotte E Teunissen, John C van Swieten, Yolande A L Pijnenburg
OBJECTIVE: To examine the clinical value of neurofilament light chain (NfL) and the phospho-tau/total tau ratio (p/t-tau) across the entire frontotemporal dementia (FTD) spectrum in a large, well-defined cohort. METHODS: CSF NfL and p/t-tau levels were studied in 361 patients with FTD: 179 behavioral variant FTD, 17 FTD with motor neuron disease (FTD-MND), 36 semantic variant primary progressive aphasia (PPA), 19 nonfluent variant PPA, 4 logopenic variant PPA (lvPPA), 42 corticobasal syndrome, and 64 progressive supranuclear palsy...
April 3, 2018: Neurology
https://www.readbyqxmd.com/read/29496136/minimal-neuropathologic-diagnosis-for-brain-banking-in-the-normal-middle-aged-and-aged-brain-and-in-neurodegenerative-disorders
#3
Irina Alafuzoff
Research on human brain diseases is currently often conducted on cell cultures and animals. Several questions however can only be addressed by studying human postmortem brain tissue. However, brain tissue obtained postmortem almost always displays pathology that is often related to the aging phenomenon. Thus, in order to be certain that the answers obtained are reliable, a systematic and thorough assessment of the brain tissue to be studied should be carried out. We are currently aware of several protein alterations that are found in middle-aged and aged brains that are obtained from neurologically unimpaired subjects...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29453245/early-vs-late-age-at-onset-frontotemporal-dementia-and-frontotemporal-lobar-degeneration
#4
Sang Won Seo, Marie-Pierre Thibodeau, David C Perry, Alice Hua, Manu Sidhu, Isabel Sible, Jose Norberto S Vargas, Stephanie E Gaus, Gil D Rabinovici, Katherine D Rankin, Adam L Boxer, Joel H Kramer, Howard J Rosen, Maria Luisa Gorno-Tempini, Lea T Grinberg, Eric J Huang, Stephen J DeArmond, John Q Trojanowski, Bruce L Miller, William W Seeley
OBJECTIVE: To examine clinicopathologic correlations in early vs late age at onset frontotemporal dementia (FTD) and frontotemporal lobar degeneration (FTLD). METHODS: All patients were clinically evaluated and prospectively diagnosed at the UCSF Memory and Aging Center. Two consecutive series were included: (1) patients with a clinically diagnosed FTD syndrome who underwent autopsy (cohort 1) and (2) patients with a primary pathologic diagnosis of FTLD, regardless of the clinical syndrome (cohort 2)...
March 20, 2018: Neurology
https://www.readbyqxmd.com/read/29453244/white-matter-change-with-apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#5
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
OBJECTIVE: To identify the white matter correlates of apathy and impulsivity in the major syndromes associated with frontotemporal lobar degeneration, using diffusion-weighted imaging and data from the PiPPIN (Pick's Disease and Progressive Supranuclear Palsy: Prevalence and Incidence) study. We included behavioral and language variants of frontotemporal dementia, corticobasal syndrome, and progressive supranuclear palsy. METHODS: Seventy patients and 30 controls underwent diffusion tensor imaging at 3-tesla after detailed assessment of apathy and impulsivity...
February 16, 2018: Neurology
https://www.readbyqxmd.com/read/29415231/detection-of-alzheimer-disease-ad-specific-tau-pathology-in-ad-and-nonad-tauopathies-by-immunohistochemistry-with-novel-conformation-selective-tau-antibodies
#6
Garrett S Gibbons, Rachel A Banks, Bumjin Kim, Lakshmi Changolkar, Dawn M Riddle, Susan N Leight, David J Irwin, John Q Trojanowski, Virginia M Y Lee
Aggregation of tau into fibrillar structures within the CNS is a pathological hallmark of a clinically heterogeneous set of neurodegenerative diseases termed tauopathies. Unique misfolded conformations of tau, referred to as strains, are hypothesized to underlie the distinct neuroanatomical and cellular distribution of pathological tau aggregates. Here, we report the identification of novel tau monoclonal antibodies (mAbs) that selectively bind to an Alzheimer disease (AD)-specific conformation of pathological tau...
March 1, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29398119/target-enriched-sequencing-of-chromosome-17q21-31-in-sporadic-tauopathies-reveals-no-candidate-variants
#7
Cristina Razquin, Sara Ortega-Cubero, Estefania Rojo-Bustamante, Monica Diez-Fairen, Elena Lorenzo, Elena Alonso, Mario Ezquerra, Owen A Ross, Maria Carcel, Oswaldo Lorenzo-Betancor, Alexandra I Soto, Jeremy D Burgess, Nilüfer Ertekin-Taner, Dennis W Dickson, Maria A Pastor, Eduard Tolosa, Pau Pastor
The main genetic risk factors for progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are located at chromosome 17q21.31. The identification of risk H1 subhaplotypes suggests that disease-specific variants can be identified by resequencing the 17q21.31 region (1.4 Mb) in carriers of risk H1 subhaplotypes. We hypothesized that PSP/CBD H1 subhaplotype carriers could have undergone a mutational event absent among unaffected carriers leading to the disease risk. We performed this strategy in definite PSP subjects, definite CBD subjects, and healthy controls and tried to replicate the findings in a larger PSP/CBD case-control series...
January 11, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29391909/development-of-tau-pet-imaging-ligands-and-their-utility-in-preclinical-and-clinical-studies
#8
REVIEW
Yoori Choi, Seunggyun Ha, Yun-Sang Lee, Yun Kyung Kim, Dong Soo Lee, Dong Jin Kim
The pathological features of Alzheimer's disease are senile plaques which are aggregates of β-amyloid peptides and neurofibrillary tangles in the brain. Neurofibrillary tangles are aggregates of hyperphosphorylated tau proteins, and these induce various other neurodegenerative diseases, such as progressive supranuclear palsy, corticobasal degeneration, frontotemporal lobar degeneration, frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), and chronic traumatic encephalopathy. In the case of Alzheimer's disease, the measurement of neurofibrillary tangles associated with cognitive decline is suitable for differential diagnosis, disease progression assessment, and to monitor the effects of therapeutic treatment...
February 2018: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29387532/fdg-pet-and-csf-biomarker-accuracy-in-prediction-of-conversion-to-different-dementias-in-a-large-multicentre-mci-cohort
#9
Silvia Paola Caminiti, Tommaso Ballarini, Arianna Sala, Chiara Cerami, Luca Presotto, Roberto Santangelo, Federico Fallanca, Emilia Giovanna Vanoli, Luigi Gianolli, Sandro Iannaccone, Giuseppe Magnani, Daniela Perani
Background/aims: In this multicentre study in clinical settings, we assessed the accuracy of optimized procedures for FDG-PET brain metabolism and CSF classifications in predicting or excluding the conversion to Alzheimer's disease (AD) dementia and non-AD dementias. Methods: We included 80 MCI subjects with neurological and neuropsychological assessments, FDG-PET scan and CSF measures at entry, all with clinical follow-up. FDG-PET data were analysed with a validated voxel-based SPM method...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29373632/neurotransmitter-deficits-from-frontotemporal-lobar-degeneration
#10
Alexander G Murley, James B Rowe
Frontotemporal lobar degeneration causes a spectrum of complex degenerative disorders including frontotemporal dementia, progressive supranuclear palsy and corticobasal syndrome, each of which is associated with changes in the principal neurotransmitter systems. We review the evidence for these neurochemical changes and propose that they contribute to symptomatology of frontotemporal lobar degeneration, over and above neuronal loss and atrophy. Despite the development of disease-modifying therapies, aiming to slow neuropathological progression, it remains important to advance symptomatic treatments to reduce the disease burden and improve patients' and carers' quality of life...
January 24, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29353121/tau-pet-imaging-with-18f-av-1451-in-primary-progressive-apraxia-of-speech
#11
Rene L Utianski, Jennifer L Whitwell, Christopher G Schwarz, Matthew L Senjem, Nirubol Tosakulwong, Joseph R Duffy, Heather M Clark, Mary M Machulda, Ronald C Petersen, Clifford R Jack, Val J Lowe, Keith A Josephs
Apraxia of speech is a motor speech disorder characterized by combinations of slow speaking rate, abnormal prosody, distorted sound substitutions, and trial-and-error articulatory movements. Apraxia of speech is due to abnormal planning and/or programming of speech production. It is referred to as primary progressive apraxia of speech (PPAOS) when it is the only symptom of a neurodegenerative condition. Past reports suggest an association of PPAOS with primary 4-repeat (4R) tau (e.g., progressive supranuclear palsy, corticobasal degeneration), rather than amyloid, pathology...
February 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29332037/increased-vulnerability-of-the-hippocampus-in-transgenic-mice-overexpressing-app-and-triple-repeat-tau
#12
Andrew Arner, Edward Rockenstein, Michael Mante, Jazmin Florio, Deborah Masliah, Bahar Salehi, Anthony Adame, Cassia Overk, Eliezer Masliah, Robert A Rissman
 Alzheimer's disease (AD) is the most common tauopathy, characterized by progressive accumulation of amyloid-β (Aβ) and hyperphosphorylated tau. While pathology associated with the 4-repeat (4R) tau isoform is more abundant in corticobasal degeneration and progressive supranuclear palsy, both 3R and 4R tau isoforms accumulate in AD. Many studies have investigated interactions between Aβ and 4R tau in double transgenic mice, but few, if any, have examined the effects of Aβ with 3R tau. To examine this relationship, we crossed our APP751 mutant line with our recently characterized 3R tau mutant model to create a bigenic line (hAPP-3RTau) to model AD neuropathology...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29315334/immune-related-genetic-enrichment-in-frontotemporal-dementia-an-analysis-of-genome-wide-association-studies
#13
Iris Broce, Celeste M Karch, Natalie Wen, Chun C Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A Ross, Günter U Höglinger, Ulrich Muller, John Hardy, Parastoo Momeni, Christopher P Hess, William P Dillon, Zachary A Miller, Luke W Bonham, Gil D Rabinovici, Howard J Rosen, Gerard D Schellenberg, Andre Franke, Tom H Karlsen, Jan H Veldink, Raffaele Ferrari, Jennifer S Yokoyama, Bruce L Miller, Ole A Andreassen, Anders M Dale, Rahul S Desikan, Leo P Sugrue
BACKGROUND: Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed. METHODS AND FINDINGS: Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis...
January 2018: PLoS Medicine
https://www.readbyqxmd.com/read/29307007/neurophysiology-and-neurochemistry-of-corticobasal-syndrome
#14
REVIEW
Aditya A Murgai, Mandar S Jog
Corticobasal syndrome is a rare neurodegenerative disorder, which presents with a progressive, asymmetrical, akinetic rigid syndrome and early cortical signs. However, clinical, pathological, and electrophysiological heterogeneity makes the understanding of this syndrome challenging. Corticobasal syndrome can have various pathological substrates including corticobasal degeneration, Alzheimer's disease, Fronto-temporal degeneration with TDP inclusions, Creutzfeldt-Jakob disease, and progressive supranuclear palsy (PSP)...
January 6, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29306357/apathy-in-corticobasal-degeneration-possible-parietal-involvement
#15
Rita Moretti, R Caberlotto, R Signori
Corticobasal degeneration is a rare disorder, which usually consists of a combination of complex movement disorders, apraxia and cortical changes. Its definition is still evolving and in 2013 an international consortium tried to develop new criteria, based on a systematic literature review. Over a long period of time, we carefully selected 23 patients who fulfilled the criteria for a diagnosis of corticobasal degeneration; all had the so-called corticobasal syndrome phenotype, in accordance with Armstrong et al...
October 2017: Functional Neurology
https://www.readbyqxmd.com/read/29304218/selective-vulnerability-of-brainstem-nuclei-in-distinct-tauopathies-a-postmortem-study
#16
Rana A Eser, Alexander J Ehrenberg, Cathrine Petersen, Sara Dunlop, Maria B Mejia, Claudia K Suemoto, Christine M Walsh, Hima Rajana, Jun Oh, Panos Theofilas, William W Seeley, Bruce L Miller, Thomas C Neylan, Helmut Heinsen, Lea T Grinberg
The brainstem nuclei of the reticular formation (RF) are critical for regulating homeostasis, behavior, and cognition. RF degenerates in tauopathies including Alzheimer disease (AD), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). Although the burden of phopho-tau inclusion is high across these diseases, suggesting a similar vulnerability pattern, a distinct RF-associated clinical phenotype in these diseases indicates the opposite. To compare patterns of RF selective vulnerability to tauopathies, we analyzed 5 RF nuclei in tissue from 14 AD, 14 CBD, 10 PSP, and 3 control cases...
February 1, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29282340/-from-involuntary-movements-to-movement-disorders
#17
Toshio Fukutake
Apart from the term 'involuntary movements', the term 'movement disorders' encompasses not only classical hyperkinesias but also hypokinesias including catalepsy or apraxia. It enables us to understand abnormal movements by their phenomena instead of by their localization. To advance the grasping of movement disorders, we discuss the clinical and pathophysiological features of abnormal movements in catatonia/catalepsy, anti-NMDAR encephalitis, paroxysmal dyskinesias, stiff person/leg syndrome, corticobasal degeneration/syndrome, and hysteria...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29275172/a-novel-liquid-chromatography-mass-spectrometry-method-for-determination-of-neurotransmitters-in-brain-tissue-application-to-human-tauopathies
#18
Andrea Forgacsova, Jaroslav Galba, Ralph M Garruto, Petra Majerova, Stanislav Katina, Andrej Kovac
Neurotransmitters, small molecules widely distributed in the central nervous system are essential in transmitting electrical signals across neurons via chemical communication. Dysregulation of these chemical signaling molecules is linked to numerous neurological diseases including tauopathies. In this study, a precise and reliable liquid chromatography method was established with tandem mass spectrometry detection for the simultaneous determination of aspartic acid, asparagine, glutamic acid, glutamine, γ-aminobutyric acid, N-acetyl-l-aspartic acid, pyroglutamic acid, acetylcholine and choline in human brain tissue...
January 15, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29232559/cilostazol-a-phosphodiesterase-3-inhibitor-activates-proteasome-mediated-proteolysis-and-attenuates-tauopathy-and-cognitive-decline
#19
Ari W Schaler, Natura Myeku
Alzheimer's disease and several variants of frontotemporal degeneration including progressive supranuclear palsy and corticobasal degeneration are characterized by the accumulation of abnormal tau protein into aggregates. Most proteins, including tau, are degraded via the ubiquitin proteasome system, but when abnormal tau accumulates, the function of 26S proteasomes is downregulated. The negative effect of tau aggregates on the function of the proteasome can have deleterious consequences on protein homeostasis and disease progression...
March 2018: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29206491/new-advances-in-tau-imaging-in-parkinsonism
#20
Mikaeel Valli, Antonio P Strafella
Currently, the differential diagnosis between atypical parkinsonisms and classical idiopathic Parkinson's disease can be quite difficult because of the significant overlap of clinical presentation and symptoms. Neurodegenerative conditions, including progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal dementia (FTD), are primarily characterized by accumulation of tau protein in the brain. Recent imaging developments for tau pathology may provide a promising tool for the assessment of diagnosis, prognosis, and progression of these neurodegenerative disorders...
December 2017: International Review of Psychiatry
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