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frontotemporal lobar dementia

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https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#1
REVIEW
Angela B Deutschländer, Owen A Ross, Dennis W Dickson, Zbigniew K Wszolek
The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are clinically heterogeneous and show significant phenotypic overlap. Here we review clinical, imaging, neuropathologic and genetic features of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal lobar degeneration (FTLD). The terms CBD and FTLD refer to pathologically confirmed cases of corticobasal syndrome (CBS) and frontotemporal dementia (FTD)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28766957/immunohistochemical-detection-of-c9orf72-protein-in-frontotemporal-lobar-degeneration-and-motor-neurone-disease-patterns-of-immunostaining-and-an-evaluation-of-commercial-antibodies
#2
Yvonne S Davidson, Andrew C Robinson, Sara Rollinson, Stuart Pickering-Brown, Shangxi Xiao, Janice Robertson, David M A Mann
We have employed as 'gold standards' two in-house, well-characterised and validated polyclonal antibodies, C9-L and C9-S, which detect the longer and shorter forms of C9orf72, and have compared seven other commercially available antibodies with these in order to evaluate the utility of the latter as credible tools for the demonstration of C9orf72. C9-L and C9-S antibodies immunostained cytoplasmic 'speckles', and the nuclear membrane, respectively, in cerebellar Purkinje cells of the cerebellum in patients with behavioural variant frontotemporal dementia (bvFTD) with amyotrophic lateral sclerosis (ALS), and in patients with ALS alone...
August 2, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28745227/frontotemporal-lobar-degeneration-review-and-update-for-clinical-neurologists
#3
Isabel Hernández, Maria-Victoria Fernández, Lluis Tàrraga, Mercè Boada, Agustín Ruiz
BACKGROUND: Frontotemporal Dementia (FTD) is a heterogeneous group of disorders and the second most frequent cause of early onset dementia making it the highest number of inherited cases. METHODS: FTL is characterized by considerable variability in clinical, genetic and histopathologic features. Patients may present symptoms ranging from behavioural disturbances to different language disorders, with or without motor neuron disorders or associated parkinsonism. Atrophy in frontal and temporal lobes is the most relevant radiological finding...
July 25, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28743268/the-lysosomal-protein-cathepsin-l-is-a-progranulin-protease
#4
Chris W Lee, Jeannette N Stankowski, Jeannie Chew, Casey N Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W Dickson, Leonard Petrucelli
Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal lobar degeneration (FTLD), the second most common cause of early-onset dementia. Receptor-mediated lysosomal targeting has been shown to regulate brain PGRN levels, and complete deficiency of PGRN is a direct cause of neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. Here we show that the lysosomal cysteine protease cathepsin L (Cat L) can mediate the proteolytic cleavage of intracellular PGRN into poly-granulin and granulin fragments...
July 25, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28728022/loss-of-tmem106b-ameliorates-lysosomal-and-frontotemporal-dementia-related-phenotypes-in-progranulin-deficient-mice
#5
Zoe A Klein, Hideyuki Takahashi, Mengxiao Ma, Massimiliano Stagi, Melissa Zhou, TuKiet T Lam, Stephen M Strittmatter
Progranulin (GRN) and TMEM106B are associated with several common neurodegenerative disorders including frontotemporal lobar degeneration (FTLD). A TMEM106B variant modifies GRN-associated FTLD risk. However, their functional relationship in vivo and the mechanisms underlying the risk modification remain unclear. Here, using transcriptomic and proteomic analyses with Grn(-/-) and Tmem106b(-/-) mice, we show that, while multiple lysosomal enzymes are increased in Grn(-/-) brain at both transcriptional and protein levels, TMEM106B deficiency causes reduction in several lysosomal enzymes...
July 19, 2017: Neuron
https://www.readbyqxmd.com/read/28711815/geschwind-syndrome-in-frontotemporal-lobar-degeneration-neuroanatomical-and-neuropsychological-features-over-9-years
#6
Laura Veronelli, Sara J Makaretz, Megan Quimby, Bradford C Dickerson, Jessica A Collins
Geschwind Syndrome, a characteristic behavioral syndrome frequently described in patients affected by temporal lobe epilepsy (TLE), consists of the following features: hyper-religiosity, hypergraphia, hyposexuality, and irritability. Here we report the 9-year-clinical course of a case of Geschwind Syndrome that developed as a first and salient clinical expression of right temporal lobe variant of frontotemporal lobar degeneration (FTLD). Only one patient affected by frontotemporal dementia has previously been shown to present with Geschwind Syndrome...
June 27, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28709448/no-added-diagnostic-value-of-non-phosphorylated-tau-fraction-p-taurel-in-csf-as-a-biomarker-for-differential-dementia-diagnosis
#7
Joery Goossens, Maria Bjerke, Hanne Struyfs, Ellis Niemantsverdriet, Charisse Somers, Tobi Van den Bossche, Sara Van Mossevelde, Bart De Vil, Anne Sieben, Jean-Jacques Martin, Patrick Cras, Johan Goeman, Peter Paul De Deyn, Christine Van Broeckhoven, Julie van der Zee, Sebastiaan Engelborghs
BACKGROUND: The Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarkers Aβ1-42, t-tau, and p-tau181 overlap with other diseases. New tau modifications or epitopes, such as the non-phosphorylated tau fraction (p-taurel), may improve differential dementia diagnosis. The goal of this study is to investigate if p-taurel can improve the diagnostic performance of the AD CSF biomarker panel for differential dementia diagnosis. METHODS: The study population consisted of 45 AD, 45 frontotemporal lobar degeneration (FTLD), 45 dementia with Lewy bodies (DLB), and 21 Creutzfeldt-Jakob disease (CJD) patients, and 20 cognitively healthy controls...
July 14, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28666471/heterogeneous-ribonuclear-protein-e2-hnrnp-e2-is-associated-with-tdp-43-immunoreactive-neurites-in-semantic-dementia-but-not-with-other-tdp-43-pathological-subtypes-of-frontotemporal-lobar-degeneration
#8
Yvonne S Davidson, Andrew C Robinson, Louis Flood, Sara Rollinson, Bridget C Benson, Yasmine T Asi, Anna Richardson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, Tammaryn Lashley, David M A Mann
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter personality and cognition. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may underpin the pathogenesis of FTLD. Immunostaining for hnRNP E2 was performed on sections of frontal and temporal cortex with hippocampus from 80 patients with FTLD, stratified by pathology into FTLD-tau and FTLD-TDP type A, B and C subtypes, and by genetics into patients with C9orf72 expansions, MAPT or GRN mutations, or those with no known mutation, and on 10 healthy controls...
June 30, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28660843/rapidly-progressive-fronto-temporal-dementia-ftd-associated-with-frontotemporal-lobar-degeneration-ftld-in-the-presence-of-fused-in-sarcoma-fus-protein-a-rare-sporadic-and-aggressive-form-of-ftd
#9
Nicholas I Bradfield, Catriona McLean, John Drago, David G Darby, David Ames
Fronto-temporal dementia (FTD) associated with Fused in Sarcoma (FUS) protein accumulation is an uncommon cause of FTD with a distinct syndrome of young age onset behavioral variant FTD, without a family history of FTD and caudate atrophy. We present a sporadic case of a 61-year-old patient with mixed features of both behavioral variant FTD with later semantic language dissolution associated with pathologically proven FUS. He was older than usual for FUS pathology, his course was rapidly progressive, and he had atypical language features...
June 29, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28646671/frontotemporal-lobar-degeneration-and-social-behaviour-dissociation-between-the-knowledge-of-its-consequences-and-its-conceptual-meaning
#10
Roland Zahn, Sophie Green, Helen Beaumont, Alistair Burns, Jorge Moll, Diana Caine, Alexander Gerhard, Paul Hoffman, Benjamin Shaw, Jordan Grafman, Matthew A Lambon Ralph
Inappropriate social behaviour is an early symptom of frontotemporal lobar degeneration (FTLD) in both behavioural variant frontotemporal dementia (bvFTD) and semantic dementia (SD) subtypes. Knowledge of social behaviour is essential for appropriate social conduct. The superior anterior temporal lobe (ATL) has been identified as one key neural component for the conceptual knowledge of social behaviour, but it is unknown whether this is dissociable from knowledge of the consequences of social behaviour. Here, we used a newly-developed test of knowledge about long-term and short-term consequences of social behaviour to investigate its impairment in patients with FTLD relative to a previously-developed test of social conceptual knowledge...
August 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28596505/progressive-modulation-of-the-human-olfactory-bulb-transcriptome-during-alzheimer%C3%A2-s-disease-evolution-novel-insights-into-the-olfactory-signaling-across-proteinopathies
#11
Mercedes Lachen-Montes, María Victoria Zelaya, Víctor Segura, Joaquín Fernández-Irigoyen, Enrique Santamaría
Alzheimer´s disease (AD) is characterized by progressive dementia, initially presenting olfactory dysfunction. Despite the olfactory bulb (OB) is the first central structure of the olfactory pathway, we lack a complete molecular characterization of the transcriptional events that occurs in this olfactory area during AD progression. To address this gap in knowledge, we have assessed the genome-wide expression in postmortem OBs from subjects with varying degree of AD pathology. A stage-dependent deregulation of specific pathways was observed, revealing transmembrane transport, and neuroinflammation as part of the functional modules that are disrupted across AD grading...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28594853/the-unexpected-co-occurrence-of-grn-and-mapt-p-a152t-in-basque-families-clinical-and-pathological-characteristics
#12
Fermin Moreno, Begoña Indakoetxea, Myriam Barandiaran, María Cristina Caballero, Ana Gorostidi, Francesc Calafell, Alazne Gabilondo, Mikel Tainta, Miren Zulaica, José F Martí Massó, Adolfo López de Munain, Pascual Sánchez-Juan, Suzee E Lee
BACKGROUND: The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD). We aimed to investigate the influence of the p.A152T MAPT variant on the clinical and neuropathological features of these Basque GRN families. METHODS AND FINDINGS: We compared clinical characteristics of 14 patients who carried the c.709-1G>A GRN mutation (GRN+/A152T-) with 21 patients who carried both the c...
2017: PloS One
https://www.readbyqxmd.com/read/28592456/csf-sapp%C3%AE-ykl-40-and-neurofilament-light-in-frontotemporal-lobar-degeneration
#13
Daniel Alcolea, Eduard Vilaplana, Marc Suárez-Calvet, Ignacio Illán-Gala, Rafael Blesa, Jordi Clarimón, Albert Lladó, Raquel Sánchez-Valle, José L Molinuevo, Guillermo García-Ribas, Yaroslau Compta, María José Martí, Gerard Piñol-Ripoll, Guillermo Amer-Ferrer, Aina Noguera, Ana García-Martín, Juan Fortea, Alberto Lleó
OBJECTIVE: To analyze the clinical utility of 3 CSF biomarkers and their structural imaging correlates in a large cohort of patients with different dementia and parkinsonian syndromes within the spectrum of frontotemporal lobar degeneration (FTLD). METHODS: We analyzed 3 CSF biomarkers (YKL-40, soluble β fragment of amyloid precursor protein [sAPPβ], neurofilament light [NfL]) and core Alzheimer disease (AD) biomarkers (β-amyloid1-42, total tau, phosphorylated tau) in patients with FTLD-related clinical syndromes (n = 159): behavioral variant of frontotemporal dementia (n = 68), nonfluent (n = 23) and semantic (n = 19) variants of primary progressive aphasia, progressive supranuclear palsy (n = 28), and corticobasal syndrome (n = 21)...
July 11, 2017: Neurology
https://www.readbyqxmd.com/read/28487499/updated-meta-analysis-of-the-role-of-apoe-%C3%AE%C2%B52-%C3%AE%C2%B53-%C3%AE%C2%B54-alleles-in-frontotemporal-lobar-degeneration
#14
Wen-Hua Su, Zhi-Hong Shi, Shu-Ling Liu, Xiao-Dan Wang, Shuai Liu, Yong Ji
We performed an updated meta-analysis to assess the role of the ε2/ε3/ε4 alleles of Apolipoprotein E gene (APOE) in frontotemporal lobar degeneration (FTLD). The relevant articles were retrieved from PubMed, CENTRAL, EMBASE and Web of Science databases, and 51 eligible case-control studies with 5123 cases and 20566 controls were selected after screening according to inclusion and exclusion criteria. Our analysis demonstrated that APOE ε4 was associated with increased FTLD risk in all genetic models (ε4 vs...
July 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28486594/apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#15
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
Apathy and impulsivity are common and disabling consequences of frontotemporal lobar degeneration. They cause substantial carer distress, but their aetiology remains elusive. There are critical limitations to previous studies in this area including (i) the assessment of either apathy or impulsivity alone, despite their frequent co-existence; (ii) the assessment of behavioural changes within single diagnostic groups; and (iii) the use of limited sets of tasks or questions that relate to just one aspect of these multifactorial constructs...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28475165/molecular-imaging-of-neuroinflammation-in-neurodegenerative-dementias-the-role-of-in-vivo-pet-imaging
#16
REVIEW
Chiara Cerami, Leonardo Iaccarino, Daniela Perani
Neurodegeneration elicits neuroinflammatory responses to kill pathogens, clear debris and support tissue repair. Neuroinflammation is a dynamic biological response characterized by the recruitment of innate and adaptive immune system cells in the site of tissue damage. Resident microglia and infiltrating immune cells partake in the restoration of central nervous system homeostasis. Nevertheless, their activation may shift to chronic and aggressive responses, which jeopardize neuron survival and may contribute to the disease process itself...
May 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28467211/hippocampal-sclerosis-in-older-patients-practical-examples-and-guidance-with-a-focus-on-cerebral-age-related-tdp-43-with-sclerosis
#17
Matthew D Cykowski, Suzanne Z Powell, Paul E Schulz, Hidehiro Takei, Andreana L Rivera, Robert E Jackson, Gustavo Roman, Gregory A Jicha, Peter T Nelson
CONTEXT: - Autopsy studies of the older population (≥65 years of age), and particularly of the "oldest-old" (≥85 years of age), have identified a significant proportion (∼20%) of cognitively impaired patients in which hippocampal sclerosis is the major substrate of an amnestic syndrome. Hippocampal sclerosis may also be comorbid with frontotemporal lobar degeneration, Alzheimer disease, and Lewy body disease. Until recently, the terms hippocampal sclerosis of aging or hippocampal sclerosis dementia were applied in this context...
May 3, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28445885/patterns-of-microglial-cell-activation-in-alzheimer-disease-and-frontotemporal-lobar-degeneration
#18
Ricardo Taipa, Paulo Brochado, Andrew Robinson, Inês Reis, Patrício Costa, David M Mann, Manuel Melo Pires, Nuno Sousa
AIMS: Microglia-driven neuroinflammation can play an important role in the pathophysiology of neurodegenerative disorders. In this study, we sought to characterize the distribution of microglial cell activation in 2 neurodegenerative dementias with distinct protein signatures, Alzheimer disease (AD) and frontotemporal lobar degeneration (FTLD) of the TDP subtype, and to determine if there was an anatomical correlation with the phenotypes most commonly associated with these conditions...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28420962/dysregulation-of-rna-binding-protein-aggregation-in-neurodegenerative-disorders
#19
REVIEW
Brandon Maziuk, Heather I Ballance, Benjamin Wolozin
The unique biology of RNA binding proteins is altering our view of the genesis of protein misfolding diseases. These proteins use aggregation of low complexity domains (LCDs) as a means to regulate the localization and utilization of RNA by forming RNA granules, such as stress granules, transport granules and P-bodies. The reliance on reversible aggregation as a mechanism for biological regulation renders this family of proteins highly vulnerable to promoting diseases of protein misfolding. Mutations in RNA binding proteins are associated with many neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28413716/data-driven-regions-of-interest-for-longitudinal-change-in-three-variants-of-frontotemporal-lobar-degeneration
#20
COMPARATIVE STUDY
Richard J Binney, Aleksandr Pankov, Gabriel Marx, Xuanzie He, Faye McKenna, Adam M Staffaroni, John Kornak, Suneth Attygalle, Adam L Boxer, Norbert Schuff, Maria-Luisa Gorno-Tempini, Michael W Weiner, Joel H Kramer, Bruce L Miller, Howard J Rosen
INTRODUCTION: Longitudinal imaging of neurodegenerative disorders is a potentially powerful biomarker for use in clinical trials. In Alzheimer's disease, studies have demonstrated that empirically derived regions of interest (ROIs) can provide more reliable measurement of disease progression compared with anatomically defined ROIs. METHODS: We set out to derive ROIs with optimal effect size for quantifying longitudinal change in a hypothetical clinical trial by comparing atrophy rates in 44 patients with behavioral variant of frontotemporal dementia (bvFTD), 30 with the semantic variant primary progressive aphasia (svPPA), and 26 with the nonfluent variant PPA (nfvPPA) to atrophy in 97 cognitively healthy controls...
April 2017: Brain and Behavior
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