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Progressive supranuclear palsy

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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
#1
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...
February 5, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29406901/scan-without-evidence-of-dopaminergic-deficit-swedd-in-degenerative-parkinsonism-and-dementia-with-lewy-bodies-a-prospective-study
#2
Nicolas Nicastro, Pierre R Burkhard, Valentina Garibotto
BACKGROUND: 123I-FP-CIT SPECT imaging is a reliable method to assess presynaptic dopaminergic pathways in degenerative parkinsonisms and dementia with Lewy bodies (DLB). METHODS: We aimed at examining sensitivity of combined visual and semi-quantitative 123I-FP-CIT SPECT analyses in a prospective cohort of subjects with DLB and degenerative parkinsonisms - Parkinson's disease (PD), multiple system atrophy (MSA), corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP) to determine prevalence and clinical significance of scans without evidence of dopaminergic deficit (SWEDD)...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29398194/vestibular-symptoms-as-the-presenting-feature-of-progressive-supranuclear-palsy
#3
Lucy Haggstrom, Bruce Brew, Ian Sutton, Stephen Tisch
First described in 1964, progressive supranuclear palsy (PSP) is a chronic, sporadic, progressive neurodegenerative tauopathy. Substantial phenotypic variability inherent in PSP confers difficulty to diagnosis. Although the classic presentation, termed PSP-Richardson's syndrome, has been well described, additional variants of PSP are increasingly emerging. Phenotypes described to date include PSP-parkinsonism, PSP-pure akinesia with gait freezing, PSP-corticobasal syndrome or PSP-progressive non-fluent aphasia...
February 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29398119/target-enriched-sequencing-of-chromosome-17q21-31-in-sporadic-tauopathies-reveals-no-candidate-variants
#4
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/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#5
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29391909/development-of-tau-pet-imaging-ligands-and-their-utility-in-preclinical-and-clinical-studies
#6
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/29381890/tau-positron-emission-tomography-imaging-in-degenerative-parkinsonisms
#7
REVIEW
Chul Hyoung Lyoo, Hanna Cho, Jae Yong Choi, Young Hoon Ryu, Myung Sik Lee
In recent years, several radiotracers that selectively bind to pathological tau proteins have been developed. Evidence is emerging that binding patterns of in vivo tau positron emission tomography (PET) studies in Alzheimer's disease (AD) patients closely resemble the distribution patterns of known neurofibrillary tangle pathology, with the extent of tracer binding reflecting the clinical and pathological progression of AD. In Lewy body diseases (LBD), tau PET imaging has clearly revealed cortical tau burden with a distribution pattern distinct from AD and increased cortical binding within the LBD spectrum...
January 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29379290/diagnostic-challenges-in-multiple-system-atrophy
#8
Diana Obelieniene, Sandra Bauzaite, Ilona Kulakiene, Evaldas Keleras, Indre Eitmonaite, Daiva Rastenyte
Multiple system atrophy is a progressive neurodegenerative disorder that is characterized by autonomic failure, cerebellar ataxia and parkinsonism syndrome in various combinations. In spite of the presence of well-established clinical criteria for multiple system atrophy, ante-mortem diagnosis is difficult. In our case report, we present a 78-year-old female patient who presented with early progressive aphasia and severe autonomic dysfunction. Two years after appearance of the first symptoms, she fulfilled all the major criteria for probable multiple system atrophy with rapid progression...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29373632/neurotransmitter-deficits-from-frontotemporal-lobar-degeneration
#9
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/29370822/slowly-progressive-dementia-caused-by-mapt-r406w-mutations-longitudinal-report-on-a-new-kindred-and-systematic-review
#10
Emil Ygland, Danielle van Westen, Elisabet Englund, Rosa Rademakers, Zbigniew K Wszolek, Karin Nilsson, Christer Nilsson, Maria Landqvist Waldö, Irina Alafuzoff, Oskar Hansson, Lars Gustafson, Andreas Puschmann
BACKGROUND: The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. METHODS: We compiled clinical data from a new Swedish kindred with R406W mutation. Seven family members were followed longitudinally for up to 22 years. Radiological examinations were performed in six family members and neuropathological examinations in three...
January 9, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29366918/the-role-of-the-rehabilitation-in-subjects-with-progressive-supranuclear-palsy-a-narrative-review
#11
REVIEW
Domenico Intiso, Michelangelo Bartolo, Andrea Santamato, Filomena Di Rienzo
Progressive Supranuclear Palsy (PSP) is a progressive neurodegenerative disorder due to the deposition of abnormal proteins in neurons of the basal ganglia that limit motor ability producing disability and reduced quality of life. So far, no pharmacologic therapy has been developed and the treatment remains symptomatic. The aim of the present study was to investigate systematically literature, and to determine the types and effects of rehabilitative interventions. A search of all studies was conducted in MEDLINE/PubMed, the Cochrane Central Register of Controlled Trials, CINAHL and EMBASE...
January 20, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29356135/neurogenic-bladder-in-progressive-supranuclear-palsy-a-comparison-with-parkinson-s-disease-and-multiple-system-atrophy
#12
Kyeong Joon Kim, Seong Jin Jeong, Jong-Min Kim
AIMS: Progressive supranuclear palsy (PSP) can present urinary symptoms, similar to other parkinsonian disorders. We investigated the urodynamic parameters of PSP and compared them with those of idiopathic Parkinson's disease (IPD) and multiple system atrophy (MSA) METHODS: We retrospectively analyzed the urodynamic data in patients diagnosed with parkinsonian disorders (PSP, IPD, and MSA) presenting urinary symptoms. Clinical data, including onset age, duration, and severity, as well as treatment status of parkinsonian disorders and urinary symptoms were collected...
January 22, 2018: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/29353121/tau-pet-imaging-with-18f-av-1451-in-primary-progressive-apraxia-of-speech
#13
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...
January 2, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29348302/tracking-brain-damage-in-progressive-supranuclear-palsy-a-longitudinal-mri-study
#14
Federica Agosta, Francesca Caso, Milica Ječmenica-Lukić, Igor N Petrović, Paola Valsasina, Alessandro Meani, Massimiliano Copetti, Vladimir S Kostić, Massimo Filippi
OBJECTIVES: In this prospective, longitudinal, multiparametric MRI study, we investigated clinical as well as brain grey matter and white matter (WM) regional changes in patients with progressive supranuclear palsy-Richardson's syndrome (PSP-RS). METHODS: Twenty-one patients with PSP-RS were evaluated at baseline relative to 36 healthy controls and after a mean follow-up of 1.4 years with clinical rating scales, neuropsychological tests and MRI scans. RESULTS: Relative to controls, patients with PSP-RS showed at baseline a typical pattern of brain damage, including midbrain atrophy, frontal cortical thinning and widespread WM involvement of the main infratentorial and supratentorial tracts that exceeded cortical damage...
January 18, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29339765/mutations-in-bassoon-in-individuals-with-familial-and-sporadic-progressive-supranuclear-palsy-like-syndrome
#15
Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Kato, Yasuo Miki, Hidehisa Takahashi, Satoshi Tanikawa, Shinichi Shirai, Ikuko Takahashi, Mari Kimura, Yuka Hama, Masaaki Matsushima, Shinsuke Fujioka, Takahiro Kano, Masashi Watanabe, Shin Nakagawa, Yasuyuki Kunieda, Yoshio Ikeda, Masato Hasegawa, Hiroshi Nishihara, Toshihisa Ohtsuka, Shinya Tanaka, Yoshio Tsuboi, Shigetsugu Hatakeyama, Koichi Wakabayashi, Hidenao Sasaki
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29336906/progression-of-white-matter-damage-in-progressive-supranuclear-palsy-with-predominant-parkinsonism
#16
Francesca Caso, Federica Agosta, Milica Ječmenica-Lukić, Igor Petrović, Alessandro Meani, Vladimir S Kostic, Massimo Filippi
INTRODUCTION: Progressive supranuclear palsy with predominant parkinsonism (PSP-P) accounts for 14-35% of all PSP cases. A few cross-sectional MRI studies in PSP-P showed a remarkable white matter (WM) damage. Progression of brain structural damage in these patients remains unknown. METHODS: Longitudinal clinical, cognitive and diffusion tensor (DT) MRI data were obtained over a mean 1.6 year follow up in 10 PSP-P patients. At study entry, patients were compared with 36 healthy controls...
January 4, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29333474/saccades-in-progressive-supranuclear-palsy-maladapted-irregular-curved-and-slow
#17
Aasef G Shaikh, Stewart A Factor, Jorge Juncos
Background and objectives: Slowed and curved rapid eye movements, saccades, are the well-known features of progressive supranuclear palsy (PSP). We hypothesized that the saccades in PSP are not only slow and curved, but they are also irregular and have timing deficits. Methods: We tested this hypothesis in 12 patients with PSP by measuring vertical and horizontal visually guided saccades using a limbus tracker. Results: Both, horizontal and vertical saccades were slow and had irregular trajectory and velocity profiles, but deficits were much more robust in vertical saccades...
September 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/29332037/increased-vulnerability-of-the-hippocampus-in-transgenic-mice-overexpressing-app-and-triple-repeat-tau
#18
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/29319907/aberrant-accumulation-of-erbb4-in-progressive-supranuclear-palsy
#19
Aya Murakami, Masataka Nakamura, Satoshi Kaneko, Wen-Lang Lin, Dennis W Dickson, Hirofumi Kusaka
The human epidermal growth factor receptor family consists of 4 members that belong to the ErbB lineage of proteins (ErbB1-4). Neuregulin-1 (NRG1)/ErbB signalling regulates brain development and function. Abnormalities in this signalling have been implicated in the aetiology or development of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. So, we aimed at investigating whether the expression of NRG1 or ErbB proteins are altered in progressive supranuclear palsy (PSP) METHODS: The brains of 10 PSP and 6 control patients were investigated by immunohistochemical analysis RESULTS: Whereas C-terminal ErbB4 immunoreacitivity was partially but distinctly present in the cytoplasm and/or in the nucleus of neurons in control patients, it was rarely observed in the neuronal nuclei in PSP patients...
January 10, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29315334/immune-related-genetic-enrichment-in-frontotemporal-dementia-an-analysis-of-genome-wide-association-studies
#20
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
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