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Frontotemporal degeneration

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https://www.readbyqxmd.com/read/29790198/the-role-of-lysosomes-and-autophagosomes-in-frontotemporal-lobar-degeneration
#1
Hamish Dc Bain, Yvonne S Davidson, Andrew C Robinson, Sarah Ryan, Sara Rollinson, Anna Richardson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, David M A Mann
INTRODUCTION: Cell biological and genetic evidence implicates failures in degrading aggregating proteins, such as tau and TDP-43, through autophagy or lysosomal pathways in the pathogenesis of Frontotemporal Lobar degeneration (FTLD). METHODS: We investigated changes in degradative pathways in 60 patients with different pathological or genetic forms of FTLD employing immunohistochemistry for marker proteins such as Lysosomal Associated Membrane Proteins 1 (LAMP-1) and 2 (LAMP-2), Cathepsin D (CTSD) and microtubule-associated protein 1 light chain 3 alpha (LC3A)...
May 23, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29788265/gene-expression-profile-in-frontal-cortex-in-sporadic-frontotemporal-lobar-degeneration-tdp
#2
Pol Andrés-Benito, Ellen Gelpi, Mónica Povedano, Gabriel Santpere, Isidro Ferrer
Molecular alterations compromising key metabolic pathways are poorly understood in sporadic frontotemporal lobar degeneration with TDP-43 pathology (sFTLD-TDP). Whole-transcriptome array, RT-qPCR validation, gel electrophoresis, and Western blotting, and mitochondrial electron transport chain (ETC) activity were comparatively examined in frontal cortex (area 8) of 16 sFTLD-TDP cases and 14 controls. Assessment of 111 genes by RT-qPCR showed deregulation of 81 genes linked to neurotransmission and synapses, neuronal architecture, cytoskeleton of axons and dendrites, vesicle trafficking, purines, mitochondria, and energy metabolism in sFTLD-TDP...
May 19, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29778779/ftld-als-linked-tdp-43-mutations-do-not-alter-tdp-43-s-ability-to-self-regulate-its-expression-in-drosophila
#3
Laetitia Miguel, Tracey Avequin, Marine Pons, Thierry Frébourg, Dominique Campion, Magalie Lecourtois
TDP-43 is a major disease-causing protein in amyotrophic lateral sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD). Today, more than 50 missense mutations in the TARDBP/TDP-43 gene have been described in patients with FTLD/ALS. However, the functional consequences of FTLD/ALS-linked TDP-43 mutations are not fully elucidated. In the physiological state, TDP-43 expression is tightly regulated through an autoregulatory negative feedback loop. Maintaining normal TDP-43 protein levels is critical for proper physiological functions of the cells...
May 17, 2018: Brain Research
https://www.readbyqxmd.com/read/29777184/genotype-phenotype-links-in-frontotemporal-lobar-degeneration
#4
REVIEW
Sara Van Mossevelde, Sebastiaan Engelborghs, Julie van der Zee, Christine Van Broeckhoven
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain diseases with highly heterogeneous clinical, neuropathological and genetic characteristics. This high degree of heterogeneity results from the presence of several different underlying molecular disease processes; consequently, it is unlikely that all patients with FTLD will benefit from a single therapy. Therapeutic strategies for FTLD are currently being explored, and tools are urgently needed that enable the selection of patients who are the most likely to benefit from a particular therapy...
May 18, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29774215/importance-of-functional-loss-of-fus-in-ftld-als
#5
REVIEW
Shinsuke Ishigaki, Gen Sobue
Fused in sarcoma (FUS) is an RNA binding protein that regulates RNA metabolism including alternative splicing, transcription, and RNA transportation. FUS is genetically and pathologically involved in frontotemporal lobar degeneration (FTLD)/amyotrophic lateral sclerosis (ALS). Multiple lines of evidence across diverse models suggest that functional loss of FUS can lead to neuronal dysfunction and/or neuronal cell death. Loss of FUS in the nucleus can impair alternative splicing and/or transcription, whereas dysfunction of FUS in the cytoplasm, especially in the dendritic spines of neurons, can cause mRNA destabilization...
2018: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/29760288/-neuropathologic-subtypes-of-frontotemporal-lobar-degeneration
#6
Mari Tada, Akiyoshi Kakita
Frontotemporal lobar degeneration (FTLD) is a heterogeneous disease entity encompassing a wide variety of histopathological features and genetic backgrounds. The last two decades have seen the discovery of causative genes and the identification of relevant proteins. The current histopathological classification is based on the major types of protein deposition in the brain, and most FTLD cases can be placed into one of three pathological subgroups: FTLD-tau, FTLD-TDP, and FTLD-FUS. Further sub-classification within each subgroup is based on the morphology of neuronal and glial inclusions and lesion distribution...
May 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29758948/argyrophilic-grain-pathology-in-frontotemporal-lobar-degeneration-demographic-clinical-neuropathological-and-genetic-features
#7
María José Gil, María Sagrario Manzano, María Luz Cuadrado, Cristina Fernández, Elena Góméz, Carmen Matesanz, Miguel Calero, Alberto Rábano
Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically, and genetically heterogeneous group of disorders that affect the frontal and temporal lobes of the brain. FTLD classification distinguishes three main neuropathological groups: FTLD-tau, FTLD-TDP, and FTLD-FUS. As a four-repeat tauopathy, argyrophilic grain disease (AGD) is included in the FTLD-tau group. AGD may also appear in association with other neuropathological disorders. We describe the demographic, clinical, neuropathological, and genetic characteristics of a series of FTLD cases presenting with AGD...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29755341/plasma-biomarkers-differentiate-parkinson-s-disease-from-atypical-parkinsonism-syndromes
#8
Chin-Hsien Lin, Shieh-Yueh Yang, Herng-Er Horng, Che-Chuan Yang, Jen-Jie Chieh, Hsin-Hsien Chen, Bing-Hsien Liu, Ming-Jang Chiu
Objective: Parkinson's disease (PD) has significant clinical overlaps with atypical parkinsonism syndromes (APS), which have a poorer treatment response and a more aggressive course than PD. We aimed to identify plasma biomarkers to differentiate PD from APS. Methods: Plasma samples ( n = 204) were obtained from healthy controls and from patients with PD, dementia with Lewy bodies (DLB), multiple system atrophy, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), or frontotemporal dementia (FTD) with parkinsonism (FTD-P) or without parkinsonism...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29755292/decoding-common-features-of-neurodegenerative-disorders-from-differentially-expressed-genes-to-pathways
#9
Rabia Habib, Nighat Noureen, Neha Nadeem
Background: Neurodegeneration is a progressive/irreversible loss of neurons, building blocks of our nervous system. Their degeneration gradually collapses the entire structural and functional system manifesting in myriads of clinical disorders categorized as Neurodegenerative Disorders (NDs) such as Alzheimer's Disease, (AD), Parkinson's Disease (PD), Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). NDs are characterized by a puzzling interplay of molecular and cellular defects affecting subset of neuronal populations in specific affected brain areas...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29752072/tar-dna-binding-protein-43-and-disrupted-in-schizophrenia-1-coaggregation-disrupts-dendritic-local-translation-and-mental-function-in-frontotemporal-lobar-degeneration
#10
Ryo Endo, Noriko Takashima, Yoko Nekooki-Machida, Yusuke Komi, Kelvin Kai-Wan Hui, Masaki Takao, Hiroyasu Akatsu, Shigeo Murayama, Akira Sawa, Motomasa Tanaka
BACKGROUND: Neurodegenerative diseases involving protein aggregation often accompany psychiatric symptoms. Frontotemporal lobar degeneration (FTLD) associated with TAR DNA-binding protein 43 (TDP-43) aggregation is characterized by progressive neuronal atrophy in frontal and temporal lobes of cerebral cortex. Furthermore, patients with FTLD display mental dysfunction in multiple behavioral dimensions. Nevertheless, their molecular origin for psychiatric symptoms remains unclear. METHODS: In FTLD neurons and mouse models with TDP-43 aggregates, we examined coaggregation between TDP-43 and disrupted in schizophrenia 1 (DISC1), a key player in the pathology of mental conditions and its effects on local translation in dendrites and psychiatric behaviors...
March 29, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29750243/c9orf72-dipeptide-repeat-poly-ga-inclusions-promote-intracellular-aggregation-of-phosphorylated-tdp-43
#11
Takashi Nonaka, Masami Masuda-Suzukake, Masato Hosokawa, Aki Shimozawa, Shinobu Hirai, Haruo Okado, Masato Hasegawa
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are neurodegenerative diseases characterized by accumulation of insoluble aggregates of phosphorylated 43-kDa TAR DNA-binding protein (TDP-43), and linked with abnormal expansion of a hexanucleotide repeat in an intron of chromosome 9 open reading frame 72 (C9ORF72). However, the relationship between C9ORF72 mutations and TDP-43 aggregation remains unknown. Non-ATG-dependent translation of C9ORF72 repeats produces dipeptide repeat (DPR) proteins, which form p62-positive aggregates in cerebral cortex and cerebellum of patients...
May 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29749079/acute-tau-knockdown-in-the-hippocampus-of-adult-mice-causes-learning-and-memory-deficits
#12
Ramon Velazquez, Eric Ferreira, An Tran, Emily C Turner, Ramona Belfiore, Caterina Branca, Salvatore Oddo
Misfolded and hyperphosphorylated tau accumulates in several neurodegenerative disorders including Alzheimer's disease, frontotemporal dementia with Parkinsonism, corticobasal degeneration, progressive supranuclear palsy, Down syndrome, and Pick's disease. Tau is a microtubule-binding protein, and its role in microtubule stabilization is well defined. In contrast, while growing evidence suggests that tau is also involved in synaptic physiology, a complete assessment of tau function in the adult brain has been hampered by robust developmental compensation of other microtubule-binding proteins in tau knockout mice...
May 10, 2018: Aging Cell
https://www.readbyqxmd.com/read/29746584/specific-serum-and-csf-microrna-profiles-distinguish-sporadic-behavioural-variant-of-frontotemporal-dementia-compared-with-alzheimer-patients-and-cognitively-healthy-controls
#13
Johannes Denk, Felix Oberhauser, Johannes Kornhuber, Jens Wiltfang, Klaus Fassbender, Matthias L Schroeter, Alexander E Volk, Janine Diehl-Schmid, Johannes Prudlo, Adrian Danek, Bernhard Landwehrmeyer, Martin Lauer, Markus Otto, Holger Jahn
Information on circulating miRNAs in frontotemporal lobar degeneration is very limited and conflicting results have complicated an interpretation in Alzheimer's disease thus far. In the present study we I) collected samples from multiple clinical centers across Germany, II) defined 3 homogenous patient groups with high sample sizes (bvFTD n = 48, AD n = 48 and cognitively healthy controls n = 44), III) compared expression levels in both CSF and serum samples and IV) detected a limited set of miRNAs by using a MIQE compliant protocol based on SYBR-green miRCURY assays that have proven reliable to generate reproducible results...
2018: PloS One
https://www.readbyqxmd.com/read/29744576/the-lysosomal-function-of-progranulin-a-guardian-against-neurodegeneration
#14
REVIEW
Daniel H Paushter, Huan Du, Tuancheng Feng, Fenghua Hu
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor implicated in a multitude of processes ranging from regulation of inflammation to wound healing and tumorigenesis. The clinical importance of PGRN became especially evident in 2006, when heterozygous mutations in the GRN gene, resulting in haploinsufficiency, were found to be one of the main causes of frontotemporal lobar degeneration (FTLD). FTLD is a clinically heterogenous disease that results in the progressive atrophy of the frontal and temporal lobes of the brain...
May 9, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29742909/olfactory-testing-in-frontotemporal-dementia-a-literature-review
#15
Alessandro Tonacci, Lucia Billeci
Frontotemporal dementia (FTD) is a heterogeneous disorder featuring language impairment, personality changes, and executive defects, often due to the frontotemporal lobar degeneration (FTLD). Both FTD and FTLD are often associated with olfactory impairment, early biomarker for neurodegeneration, which can be evaluated with different techniques, among which low-cost olfactory tests are widely used. Therefore, we conducted a review of the literature focusing on papers published between January 1, 2007, and June 12, 2017, investigating the usefulness of olfactory testing in FTD/FTLD...
January 1, 2018: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/29742622/fluorescence-in-situ-hybridization-method-reveals-that-carboxyl-terminal-fragments-of-transactive-response-dna-binding-protein-43-truncated-at-the-amino-acid-residue-218-reduce-poly-a-rna-expression
#16
Shinji Higashi, Ryohei Watanabe, Tetsuaki Arai
Transactive response (TAR) DNA-binding protein 43 (TDP-43) has emerged as an important contributor to amyotrophic lateral sclerosis and frontotemporal lobar degeneration. To understand the association of TDP-43 with complex RNA processing in disease pathogenesis, we performed fluorescence in-situ hybridization using HeLa cells transfected with a series of deleted TDP-43 constructs and investigated the effect of truncation of TDP-43 on the expression of poly(A) RNA. Endogenous and overexpressed full-length TDP-43 localized to the perichromatin region and interchromatin space adjacent to poly(A) RNA...
May 8, 2018: Neuroreport
https://www.readbyqxmd.com/read/29736698/clinical-utility-of-fdg-pet-for-the-differential-diagnosis-among-the-main-forms-of-dementia
#17
Peter J Nestor, Daniele Altomare, Cristina Festari, Alexander Drzezga, Jasmine Rivolta, Zuzana Walker, Femke Bouwman, Stefania Orini, Ian Law, Federica Agosta, Javier Arbizu, Marina Boccardi, Flavio Nobili, Giovanni Battista Frisoni
AIM: To assess the clinical utility of FDG-PET as a diagnostic aid for differentiating Alzheimer's disease (AD; both typical and atypical forms), dementia with Lewy bodies (DLB), frontotemporal lobar degeneration (FTLD), vascular dementia (VaD) and non-degenerative pseudodementia. METHODS: A comprehensive literature search was conducted using the PICO model to extract evidence from relevant studies. An expert panel then voted on six different diagnostic scenarios using the Delphi method...
May 7, 2018: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29730992/a-new-tao-kinase-inhibitor-reduces-tau-phosphorylation-at-sites-associated-with-neurodegeneration-in-human-tauopathies
#18
Caterina Giacomini, Chuay-Yeng Koo, Natalia Yankova, Ignatius A Tavares, Selina Wray, Wendy Noble, Diane P Hanger, Jonathan D H Morris
In Alzheimer's disease (AD) and related tauopathies, the microtubule-associated protein tau is highly phosphorylated and aggregates to form neurofibrillary tangles that are characteristic of these neurodegenerative diseases. Our previous work has demonstrated that the thousand-and-one amino acid kinases (TAOKs) 1 and 2 phosphorylate tau on more than 40 residues in vitro. Here we show that TAOKs are phosphorylated and active in AD brain sections displaying mild (Braak stage II), intermediate (Braak stage IV) and advanced (Braak stage VI) tau pathology and that active TAOKs co-localise with both pre-tangle and tangle structures...
May 7, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29730823/the-correlation-between-striatal-and-cortical-binding-ratio-of-11-c-pib-pet-in-amyloid-uptake-positive-patients
#19
Julia Sauerbeck, Kazunari Ishii, Chisa Hosokawa, Hayato Kaida, Franziska T Scheiwein, Kohei Hanaoka, Axel Rominger, Matthias Brendel, Peter Bartenstein, Takamichi Murakami
PURPOSE: In subjects with amyloid deposition, striatal accumulation of 11 C-Pittsburgh compound B (PiB) demonstrated by positron emission tomography (PET) is related to the stage of Alzheimer's disease (AD). In this study, we investigated the correlation between striatal and cortical non-displaceable binding potential (BPND ). METHODS: Seventy-three subjects who complained of cognitive disturbance underwent dynamic PiB-PET studies and showed positive PiB accumulation were retrospectively selected...
May 5, 2018: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/29729314/the-human-mapt-locus-generates-circular-rnas
#20
Justin R Welden, Jacob van Doorn, Peter T Nelson, Stefan Stamm
The microtubule-associated protein Tau, generated by the MAPT gene is involved in dozens of neurodegenerative conditions ("tauopathies"), including Alzheimer's disease (AD) and frontotemporal lobar degeneration/frontotemporal dementia (FTLD/FTD). The pre-mRNA of MAPT is well studied and its aberrant pre-mRNA splicing is associated with frontotemporal dementia. Using a PCR screen of RNA from human brain tissues, we found that the MAPT locus generates circular RNAs through a backsplicing mechanism from exon 12 to either exon 10 or 7...
May 2, 2018: Biochimica et Biophysica Acta
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