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https://www.readbyqxmd.com/read/28930593/precision-medicine-of-frontotemporal-dementia-from-genotype-to-phenotype
#1
Xiang-Qian Che, Ning Song, Ying Gao, Ru-Jing Ren, Gang Wang
Frontotemporal dementia (FTD) is the second most common neurodegenerative  cause of early-onset dementia. FTD has an important genetic component contributing to its pathogenic mechanisms. Currently, extensive research on neuroimaging biomarkers and neurochemical biomarkers in FTD is being conducted to address the clinical need for a sensitive and specific diagnostic marker. Here, we review the advances in genetics, biomarkers and treatment of FTD and how this may represent a shift towards precision medicine...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28928015/dendritic-homeostasis-disruption-in-a-novel-frontotemporal-dementia-mouse-model-expressing-cytoplasmic-fused-in-sarcoma
#2
Gen Shiihashi, Daisuke Ito, Itaru Arai, Yuki Kobayashi, Kanehiro Hayashi, Shintaro Otsuka, Kazunori Nakajima, Michisuke Yuzaki, Shigeyoshi Itohara, Norihiro Suzuki
Cytoplasmic aggregation of fused in sarcoma (FUS) is detected in brain regions affected by amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), which compose the disease spectrum, FUS proteinopathy. To understand the pathomechanism of ALS-FTD-associated FUS, we examined the behavior and cellular properties of an ALS mouse model overexpressing FUS with nuclear localization signal deletion. Mutant FUS transgenic mice showed hyperactivity, social interactional deficits, and impaired fear memory retrieval, all of which are compatible with FTD phenotypes...
September 9, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28924428/good-feasibility-of-the-new-german-blood-donor-questionnaire
#3
Claudia Houareau, Robert Deitenbeck, Ariane Sümnig, Anette Moeller, Christiane Saadé, Frank Stötzer, Margarethe Heiden, Hinnak Northoff, Ruth Offergeld
BACKGROUND: We assessed the effect of the uniform donor questionnaire (UDQ) on deferral rates in first-time and repeat donors. We focused on the introduced question about unprotected sexual contact with a new partner. Another goal was a stratified comparison of the deferral rates of the donor questionnaire (DQ) and UDQ. METHODS: Data on donors and deferrals using the DQ and UDQ were collected at four blood establishments. The comparison included a 2-year period by questionnaire version...
August 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28924426/changes-in-the-whole-blood-donor-population-in-south-west-germany-2010-versus-2016
#4
Michael Müller-Steinhardt, Christian Weidmann, Harald Klüter
BACKGROUND: In the recent past, the discrepancy between blood supply and future demand may have been overestimated. As medical progress develops rapidly, it will be essential to monitor ongoing demographic changes in the donor population regularly and to re-evaluate retention and recruiting strategies. The aim of the current study was to compare first-time donor (FTD) characteristics and their return rates. We therefore compared whole blood (WB) donations in total and the annual donation frequencies in 2010 and in 2015/2016...
August 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#5
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28916614/dysregulated-molecular-pathways-in-amyotrophic-lateral-sclerosis-frontotemporal-dementia-spectrum-disorder
#6
REVIEW
Fen-Biao Gao, Sandra Almeida, Rodrigo Lopez-Gonzalez
Frontotemporal dementia (FTD), the second most common form of dementia in people under 65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes. FTD overlaps extensively with the motor neuron disease amyotrophic lateral sclerosis (ALS), especially at the genetic level. Both FTD and ALS can be caused by many mutations in the same set of genes; the most prevalent of these mutations is a GGGGCC repeat expansion in the first intron of C9ORF72 As shown by recent intensive studies, some key cellular pathways are dysregulated in the ALS-FTD spectrum disorder, including autophagy, nucleocytoplasmic transport, DNA damage repair, pre-mRNA splicing, stress granule dynamics, and others...
September 15, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28916533/sex-differences-in-the-prevalence-of-genetic-mutations-in-ftd-and-als-a-meta-analysis
#7
REVIEW
Ashley F Curtis, Mario Masellis, Ging-Yuek Robin Hsiung, Rahim Moineddin, Kathy Zhang, Bonnie Au, Geneva Millett, Ian Mackenzie, Ekaterina Rogaeva, Mary C Tierney
OBJECTIVE: To conduct a meta-analysis that investigates sex differences in the prevalence of mutations in the 3 most common genes that cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)-chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), or microtubule-associated protein tau (MAPT)-in patients clinically diagnosed with these conditions. METHODS: MEDLINE, EMBASE, and PsycINFO databases were searched (inception to June 30, 2016)...
September 15, 2017: Neurology
https://www.readbyqxmd.com/read/28912154/inhibition-of-p25-cdk5-attenuates-tauopathy-in-mouse-and-ipsc-models-of-frontotemporal-dementia
#8
Jinsoo Seo, Oleg Kritskiy, L Ashley Watson, Scarlett J Barker, Dilip Dey, Waseem K Raja, Yuan-Ta Lin, Tak Ko, Sukhee Cho, Jay Penney, M Catarina Silva, Steven D Sheridan, Diane Lucente, James F Gusella, Bradford C Dickerson, Stephen J Haggarty, Li-Huei Tsai
Increased p25, a proteolytic fragment of the regulatory subunit p35, is known to induce aberrant activity of cyclin-dependent kinase 5 (Cdk5), which is associated with neurodegenerative disorders including Alzheimer's disease (AD). Previously, we showed that replacing endogenous p35 with the non-cleavable mutant p35 (Δp35) attenuated amyloidosis and improved cognitive function in a familial AD mouse model. Here, to address the role of p25/Cdk5 in tauopathy, we generated double transgenic mice by crossing mice overexpressing mutant human tau (P301S) with Δp35KI mice...
September 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28906375/correlations-between-clinical-characteristics-and-neuroimaging-in-chinese-patients-with-subtypes-of-frontotemporal-lobe-degeneration
#9
Zhihong Shi, Shuai Liu, Ying Wang, Shuling Liu, Tong Han, Li Cai, Yuying Zhou, Shuo Gao, Yong Ji
The aim of the study was to obtain an overview of the clinical and neuroimaging features of Chinese patients with subtypes of frontotemporal lobe degeneration (FTLD).We evaluated the demographic features, clinical presentation, and lobe atrophy depicted by magnetic resonance imaging (MRI) in 133 patients with FTLD. Two positron emission tomography (PET) scans were performed at baseline: [C]Pittsburgh compound B PET to assess amyloid-β plaque load and [F]fluorodeoxyglucose (FDG) PET to assess glucose metabolism...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28905375/elemental-turnover-rates-and-trophic-discrimination-in-juvenile-lebranche-mullet-mugil-liza-under-experimental-conditions
#10
M C L M Oliveira, R Mont'alverne, L A Sampaio, M B Tesser, L R V Ramos, A M Garcia
The aim of this study was to determine the isotopic-turnover rate (RIT ) and trophic-discrimination factor (FTD ) in muscle tissues of Lebranche mullet Mugil liza fed an experimental diet (δ(13) C = -27·1‰; δ(15) N = 1·0‰). Juvenile M. liza exhibited a relatively fast RIT , with a half-life (t50 ) of only 16 and 14 days for δ(13) C and δ(15) N respectively and a nearly complete isotopic turnover (t95 ) of 68 and 60 days for δ(13) C and δ(15) N.
September 14, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28889094/analysis-of-known-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-genes-reveals-a-substantial-genetic-burden-in-patients-manifesting-both-diseases-not-carrying-the-c9orf72-expansion-mutation
#11
Oriol Dols-Icardo, Alberto García-Redondo, Ricardo Rojas-García, Daniel Borrego-Hernández, Ignacio Illán-Gala, José Luís Muñoz-Blanco, Alberto Rábano, Laura Cervera-Carles, Alexandra Juárez-Rufián, Nino Spataro, Noemí De Luna, Lucía Galán, Elena Cortes-Vicente, Juan Fortea, Rafael Blesa, Oriol Grau-Rivera, Alberto Lleó, Jesús Esteban-Pérez, Ellen Gelpi, Jordi Clarimón
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. OBJECTIVES: The purpose of the present study was to assess the mutation burden that is present in patients with concurrent ALS and FTD (ALS/FTD) not carrying the chromosome 9 open reading frame 72 (C9orf72) hexanucleotide repeat expansion, the most important genetic cause in both diseases. METHODS: From an initial group of 973 patients with ALS, we retrospectively selected those patients fulfilling diagnostic criteria of concomitant ALS and FTD lacking the repeat expansion mutation in C9orf72...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28888721/tmem106b-and-apoe-polymorphisms-in-chmp2b-mediated-frontotemporal-dementia-ftd-3
#12
Nina Rostgaard, Peter Roos, Esben Budtz-Jørgensen, Peter Johannsen, Gunhild Waldemar, Anne Nørremølle, Suzanne G Lindquist, Susanne Gydesen, Jeremy M Brown, John Collinge, Adrian M Isaacs, Troels T Nielsen, Jørgen E Nielsen
Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD)...
July 11, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28887373/optical-coherence-tomography-identifies-outer-retina-thinning-in-frontotemporal-degeneration
#13
Benjamin J Kim, David J Irwin, Delu Song, Ebenezer Daniel, Jennifer D Leveque, Aaishah R Raquib, Wei Pan, Gui-Shuang Ying, Tomas S Aleman, Joshua L Dunaief, Murray Grossman
OBJECTIVE: Whereas Alzheimer disease (AD) is associated with inner retina thinning visualized by spectral-domain optical coherence tomography (SD-OCT), we sought to determine if the retina has a distinguishing biomarker for frontotemporal degeneration (FTD). METHODS: Using a cross-sectional design, we examined retinal structure in 38 consecutively enrolled patients with FTD and 44 controls using a standard SD-OCT protocol. Retinal layers were segmented with the Iowa Reference Algorithm...
September 8, 2017: Neurology
https://www.readbyqxmd.com/read/28882310/studying-tau-protein-propagation-and-pathology-in-the-mouse-brain-using-adeno-associated-viruses
#14
Susanne Wegmann, Rachel E Bennett, Ana S Amaral, Bradley T Hyman
The progressive spread of pathological brain lesions containing aggregated tau protein is a hallmark of Alzheimer's disease and other neurodegenerative diseases. In AD, this process follows a distinct pattern along neuronal connections from the entorhinal cortex to hippocampal areas and further on through the limbic system. In other tauopathies, the spread of tau appears less hierarchical throughout the brain, and also nonpathological tau is reported to cross-synaptic connections in the brain. To be able to study the process of cell-to-cell transport of tau and the associated neurotoxicity in the brain in vivo, adeno-associated virus-mediated expression of tau can be used to express different forms of tau in distinct brain areas in rodent models...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28881790/microrna-profiles-involved-in-trifluridine-resistance
#15
Kenta Tsunekuni, Masamitsu Konno, Ayumu Asai, Jun Koseki, Takashi Kobunai, Teiji Takechi, Yuichiro Doki, Masaki Mori, Hideshi Ishii
Trifluridine (FTD) is a key component of the novel oral antitumor drug trifluridine/tipiracil, which is approved for the treatment of patients with metastatic colorectal cancer refractory to standard chemotherapies. A microRNA analysis of three colorectal cell lines was conducted to investigate causes of FTD resistance. Drug resistant sublines of DLD-1, HCT-116, and RKO cells were developed by continuous administration of increasing doses of FTD for 5 months. The let-7d-5p gene, which maps to chromosome 9q22...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28874525/differential-diagnosis-of-alzheimer-s-disease-using-spectrochemical-analysis-of-blood
#16
Maria Paraskevaidi, Camilo L M Morais, Kássio M G Lima, Julie S Snowden, Jennifer A Saxon, Anna M T Richardson, Matthew Jones, David M A Mann, David Allsop, Pierre L Martin-Hirsch, Francis L Martin
The progressive aging of the world's population makes a higher prevalence of neurodegenerative diseases inevitable. The necessity for an accurate, but at the same time, inexpensive and minimally invasive, diagnostic test is urgently required, not only to confirm the presence of the disease but also to discriminate between different types of dementia to provide the appropriate management and treatment. In this study, attenuated total reflection FTIR (ATR-FTIR) spectroscopy combined with chemometric techniques were used to analyze blood plasma samples from our cohort...
September 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28874134/amyotrophic-lateral-sclerosis-modifies-progenitor-neural-proliferation-in-adult-classic-neurogenic-brain-niches
#17
Lucía Galán, Ulises Gómez-Pinedo, Antonio Guerrero, Jose Manuel García-Verdugo, Jorge Matías-Guiu
BACKGROUND: Adult neurogenesis persists through life at least in classic neurogenic niches. Neurogenesis has been previously described as reduced in neurodegenerative diseases. There is not much knowledge about is adult neurogenesis is or not modified in amyotrophy lateral sclerosis (ALS). All previous publications has studied the ALS SOD1 (superoxide dismutase) transgenic mouse model. The purpose of this study is to examine the process of adult neurogenesis in classic niches (subventricular zone [SVZ] and subgranular zone [SGZ] of the dentate gyrus) in patients with amyotrophic lateral sclerosis (ALS), both with (ALS-FTD) and without associated frontotemporal dementia (FTD)...
September 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28865406/resting-state-perfusion-in-the-language-network-is-linked-to-formal-thought-disorder-and-poor-functional-outcome-in-schizophrenia
#18
K Stegmayer, M Stettler, W Strik, A Federspiel, R Wiest, S Bohlhalter, S Walther
OBJECTIVE: Formal thought disorder (FTD) is a core symptom in schizophrenia. Here, we focus on resting state cerebral blood flow (rCBF) linked to dimensions of FTD. METHODS: We included 47 schizophrenia spectrum patients and 30 age- and gender-matched healthy controls. We assessed FTD with the assessment of thought, language, and communication (TLC) and imaging on a 3T MRI scanner. Within patients, we tested the association of FTD dimensions and in a subgroup (n = 27) the association of functional outcome after 6 months with whole brain rCBF...
September 2, 2017: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/28861032/mismatch-negativity-as-an-indicator-of-cognitive-sub-domain-dysfunction-in-amyotrophic-lateral-sclerosis
#19
Parameswaran Mahadeva Iyer, Kieran Mohr, Michael Broderick, Brighid Gavin, Tom Burke, Peter Bede, Marta Pinto-Grau, Niall P Pender, Russell McLaughlin, Alice Vajda, Mark Heverin, Edmund C Lalor, Orla Hardiman, Bahman Nasseroleslami
OBJECTIVE: To evaluate the utility of mismatch negativity (MMN), a neurophysiologic marker of non-motor cognitive processing, in amyotrophic lateral sclerosis (ALS). METHODS: 89 patients, stratified into 4 different phenotypic presentations of ALS (67 spinal-onset, 15 bulbar-onset, 7 ALS-FTD, 7 C9ORF72 gene careers), and 19 matched controls underwent 128-channel EEG data recording. Subjects were presented with standard auditory tones interleaved with pitch-deviant tones in three recording blocks...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28855404/cognition-and-gray-and-white-matter-characteristics-of-presymptomatic-c9orf72-repeat-expansion
#20
Janne M Papma, Lize C Jiskoot, Jessica L Panman, Elise G Dopper, Tom den Heijer, Laura Donker Kaat, Yolande A L Pijnenburg, Lieke H Meeter, Rick van Minkelen, Serge A R B Rombouts, John C van Swieten
OBJECTIVE: To investigate cognitive function, gray matter volume, and white matter integrity in the presymptomatic stage of chromosome 9 open reading frame 72 repeat expansion (C9orf72RE). METHODS: Presymptomatic C9orf72RE carriers (n = 18) and first-degree family members without a pathogenic expansion (healthy controls [HC], n = 15) underwent a standardized protocol of neuropsychological tests, T1-weighted MRI, and diffusion tensor imaging within our cohort study of autosomal dominant frontotemporal dementia (FTD)...
August 30, 2017: Neurology
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