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https://www.readbyqxmd.com/read/28631955/cerebrospinal-fluid-neurofilament-light-concentration-in-motor-neuron-disease-and-frontotemporal-dementia-predicts-survival
#1
Tobias Skillbäck, Niklas Mattsson, Kaj Blennow, Henrik Zetterberg
OBJECTIVE: To aid diagnostics, patient stratification and studies seeking to find treatments for the related diseases motor neuron disease (MND) and frontotemporal dementia (FTD), there is a need to establish a way to assess disease severity and the amount of ongoing neurodegeneration. Previous studies have suggested that cerebrospinal fluid (CSF) neurofilament light (NFL) may serve this purpose. METHODS: We cross-referenced the Swedish mortality registry with the laboratory database at Sahlgrenska University Hospital to produce a dataset of CSF NFL concentrations and mortality information for 715 MND patients, 87 FTD patients, and 107 healthy controls...
February 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28624827/qualitative-assessment-of-verbal-fluency-performance-in-frontotemporal-dementia
#2
Esther van den Berg, Lize C Jiskoot, Mariëlle J H Grosveld, John C van Swieten, Janne M Papma
BACKGROUND/AIMS: Verbal fluency is impaired in patients with frontotemporal dementia (FTD) and primary progressive aphasia (PPA). This study explored qualitative differences in verbal fluency (clustering of words, switching between strategies) between FTD and PPA variants. METHODS: Twenty-nine patients with behavioral variant FTD (bvFTD) and 50 with PPA (13 nonfluent/agrammatic, 14 semantic, and 23 logopenic) performed a semantic and letter fluency task. Clustering (number of multiword strings) and switching (number of transitions between clustered and nonclustered words) were recorded by two independent raters...
June 17, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28621768/imaging-and-fluid-biomarkers-in-frontotemporal-dementia
#3
REVIEW
Lieke H Meeter, Laura Donker Kaat, Jonathan D Rohrer, John C van Swieten
Frontotemporal dementia (FTD), the second most common type of presenile dementia, is a heterogeneous neurodegenerative disease characterized by progressive behavioural and/or language problems, and includes a range of clinical, genetic and pathological subtypes. The diagnostic process is hampered by this heterogeneity, and correct diagnosis is becoming increasingly important to enable future clinical trials of disease-modifying treatments. Reliable biomarkers will enable us to better discriminate between FTD and other forms of dementia and to predict disease progression in the clinical setting...
June 16, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28620833/assessment-of-serum-uric-acid-as-risk-factor-for-tauopathies
#4
Tommaso Schirinzi, Giulia Di Lazzaro, Vito Luigi Colona, Paola Imbriani, Mohammad Alwardat, Giulia Maria Sancesario, Alessandro Martorana, Antonio Pisani
Low levels of serum uric acid (UA) are a risk factor for many neurodegenerative diseases but the role of UA in tauopathies has not been yet fully evaluated. In this study, we assessed the risk associated with serum UA levels in a large group of patients with tauopathies, either primary or secondary. The mean serum UA concentrations of 111 patients with tauopathies (TAU), including 41 with progressive supranuclear palsy (PSP), 45 with Alzheimer's disease (AD) and 25 with frontotemporal dementia (FTD) were compared to that of 130 controls (CTL)...
June 15, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28620717/multiple-variants-in-families-with-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-related-to-c9orf72-repeat-expansion-further-observations-on-their-oligogenic-nature
#5
Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, Patrizia De Massis, Federico Oppi, Michelangelo Stanzani-Maserati, Elena Pasini, Simone Baiardi, Patrizia Avoni, Piero Parchi, Rocco Liguori, Sabina Capellari
The C9orf72 repeat expansion (RE) is one of the most frequent causative mutations of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, it is still unclear how the C9orf72 RE can lead to a heterogeneous phenotype. Several reports have shown the coexistence of mutations in multiple ALS/FTD causative genes in the same family, suggesting an oligogenic etiology for ALS and FTD. Our aim was to investigate this phenomenon in an Italian group of ALS/FTD pedigrees carrying the C9orf72 RE...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28615433/disease-progression-in-c9orf72-mutation-carriers
#6
Mary K Floeter, Bryan J Traynor, Jennifer Farren, Laura E Braun, Michael Tierney, Edythe A Wiggs, Tianxia Wu
OBJECTIVE: To assess changes in 3 clinical measures, the Revised ALS Functional Rating Scale (ALSFRS-R), letter fluency, and Frontal Behavioral Inventory (FBI), over time in C9orf72 mutation carriers (C9+) with varied clinical phenotypes. METHODS: Thirty-four unrelated participants with mutations in C9orf72 were enrolled in a prospective natural history study. Participants were classified as asymptomatic, amyotrophic lateral sclerosis (ALS), ALS-familial frontotemporal dementia (FTD), or behavioral-variant FTD by clinical diagnostic criteria...
June 14, 2017: Neurology
https://www.readbyqxmd.com/read/28615359/immunity-at-the-forefront-of-the-brain-a-new-genetic-model-of-ftd
#7
Jill K Morris
Functional characterization of a genetic variant linked to frontotemporal dementia in a murine model reveals deficits in cerebral immune response and metabolism.
June 14, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28614712/evidence-that-c9orf72-dipeptide-repeat-proteins-associate-with-u2-snrnp-to-cause-mis-splicing-in-als-ftd-patients
#8
Shanye Yin, Rodrigo Lopez-Gonzalez, Ryan C Kunz, Jaya Gangopadhyay, Carl Borufka, Steven P Gygi, Fen-Biao Gao, Robin Reed
Hexanucleotide repeat expansion in the C9ORF72 gene results in production of dipeptide repeat (DPR) proteins that may disrupt pre-mRNA splicing in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients. At present, the mechanisms underlying this mis-splicing are not understood. Here, we show that addition of proline-arginine (PR) and glycine-arginine (GR) toxic DPR peptides to nuclear extracts blocks spliceosome assembly and splicing, but not other types of RNA processing. Proteomic and biochemical analyses identified the U2 small nuclear ribonucleoprotein particle (snRNP) as a major interactor of PR and GR peptides...
June 13, 2017: Cell Reports
https://www.readbyqxmd.com/read/28608264/the-small-heat-shock-protein-b8-hspb8-efficiently-removes-aggregating-species-of-dipeptides-produced-in-c9orf72-related-neurodegenerative-diseases
#9
Riccardo Cristofani, Valeria Crippa, Giulia Vezzoli, Paola Rusmini, Mariarita Galbiati, Maria Elena Cicardi, Marco Meroni, Veronica Ferrari, Barbara Tedesco, Margherita Piccolella, Elio Messi, Serena Carra, Angelo Poletti
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two neurodegenerative diseases in which similar pathogenic mechanisms are involved. Both diseases associate to the high propensity of specific misfolded proteins, like TDP-43 or FUS, to mislocalize and aggregate. This is partly due to their intrinsic biophysical properties and partly as a consequence of failure of the neuronal protein quality control (PQC) system. Several familial ALS/FTD cases are linked to an expansion of a repeated G4C2 hexanucleotide sequence present in the C9ORF72 gene...
June 12, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/28606110/a-c9orf72-bac-mouse-model-recapitulates-key-epigenetic-perturbations-of-als-ftd
#10
Rustam Esanov, Gabriela Toro Cabrera, Nadja S Andrade, Tania F Gendron, Robert H Brown, Michael Benatar, Claes Wahlestedt, Christian Mueller, Zane Zeier
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a fatal and progressive neurodegenerative disorder with identified genetic causes representing a significant minority of all cases. A GGGGCC hexanucleotide repeat expansion (HRE) mutation within the C9ORF72 gene has recently been identified as the most frequent known cause of ALS. The expansion leads to partial heterochromatinization of the locus, yet mutant RNAs and dipeptide repeat proteins (DPRs) are still produced in sufficient quantities to confer neurotoxicity...
June 12, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28601570/agreement-among-neuropsychological-and-behavioral-data-and-pib-findings-in-diagnosing-frontotemporal-dementia
#11
Kelly A Ryan, Dustin Hammers, Angeline DeLeon, Hande Bilen, Kirk Frey, James Burke, Roger Albin, Nancy Barbas, Judith Heidebrink, Bruno Giordani
Diagnostic inaccuracies have been reported in Alzheimer's disease (AD) and Frontotemporal Dementia (FTD) using clinical data alone. The [(11)C]-PiB PET scan offers a new method of identifying AD based on the detection of amyloid deposits. Our study investigated whether there was an agreement between neuropsychological and behavioral data and PiB findings in the diagnosis of FTD. Participants were 32 patients diagnosed with suspected FTD by clinical consensus. All participants underwent neuropsychological testing and PiB imaging...
June 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28600595/assessing-behavioural-changes-in-als-cross-validation-of-als-specific-measures
#12
Marta Pinto-Grau, Emmet Costello, Sarah O'Connor, Marwa Elamin, Tom Burke, Mark Heverin, Niall Pender, Orla Hardiman
The Beaumont Behavioural Inventory (BBI) is a behavioural proxy report for the assessment of behavioural changes in ALS. This tool has been validated against the FrSBe, a non-ALS-specific behavioural assessment, and further comparison of the BBI against a disease-specific tool was considered. This study cross-validates the BBI against the ALS-FTD-Q. Sixty ALS patients, 8% also meeting criteria for FTD, were recruited. All patients were evaluated using the BBI and the ALS-FTD-Q, completed by a carer. Correlational analysis was performed to assess construct validity...
June 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28596471/microrna-profiles-involved-in-trifluridine-resistance
#13
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...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28596466/-clocks-behavior-and-cognition
#14
Akinori Futamura, Azusa Shiromaru, Takeshi Kuroda, Motoyasu Honma, Ryuta Kinno, Kenjiro Ono, Mitsuru Kawamura
The nerve center responsible for controlling our circadian rhythm is located in a cluster of cells known as the suprachiasmatic nucleus in the hypothalamus. Various physiological functions such as sleep, arousal, blood pressure, body temperature, and hormone secretion are regulated in a 24-hour rhythm by this circuit. Somatic cells of other organs have a peripheral clock gene and by synchronizing the rhythm of the central and peripheral clocks, it is possible to live a healthy life. Due to aging and degenerative disease, circadian rhythm gradually collapses...
June 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28596248/examining-the-language-and-behavioural-profile-in-ftd-and-als-ftd
#15
Jennifer A Saxon, Jennifer C Thompson, Matthew Jones, Jennifer M Harris, Anna Mt Richardson, Tobias Langheinrich, David Neary, David Ma Mann, Julie S Snowden
BACKGROUND: A proportion of patients with behavioural variant frontotemporal dementia (bvFTD) develop amyotrophic lateral sclerosis (ALS). It is currently unknown whether the behavioural and cognitive syndrome in bvFTD with ALS (ALS-FTD) is indistinguishable from that of bvFTD alone. METHODS: A retrospective cohort of 241 patients with clinical diagnoses of bvFTD (n=185) or ALS-FTD (n=56) was examined with respect to behavioural, cognitive and neuropsychiatric symptoms...
June 8, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28594853/the-unexpected-co-occurrence-of-grn-and-mapt-p-a152t-in-basque-families-clinical-and-pathological-characteristics
#16
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/28585888/predictive-genetic-testing-for-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-genetic-counselling-considerations
#17
Ashley Crook, Kelly Williams, Lorel Adams, Ian Blair, Dominic B Rowe
Once a gene mutation that is causal of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) is identified in a family, relatives may decide to undergo predictive genetic testing to determine whether they are at risk of developing disease. Recent advances in gene discovery have led to a pressing need to better understand the implications of predictive genetic testing. Here we review the uptake of genetic counselling, predictive and reproductive testing, and the factors that impact the decision to undergo testing, for consideration in clinical practice...
June 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28585542/loss-of-function-chchd10-mutations-in-cytoplasmic-tdp-43-accumulation-and-synaptic-integrity
#18
Jung-A A Woo, Tian Liu, Courtney Trotter, Cenxiao C Fang, Emillio De Narvaez, Patrick LePochat, Drew Maslar, Anusha Bukhari, Xingyu Zhao, Andrew Deonarine, Sandy D Westerheide, David E Kang
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated. In this study, we made a series of observations utilizing Caenorhabditis elegans models, mammalian cell lines, primary neurons and mouse brains, demonstrating that CHCHD10 normally exerts a protective role in mitochondrial and synaptic integrity as well as in the retention of nuclear TDP-43, whereas FTD/ALS-associated mutations (R15L and S59L) exhibit loss of function phenotypes in C...
June 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28585384/modeling-the-c9orf72-repeat-expansion-mutation-using-human-induced-pluripotent-stem-cells
#19
Bhuvaneish T Selvaraj, Matthew R Livesey, Siddharthan Chandran
C9ORF72 repeat expansion is the most frequent causal genetic mutation giving rise to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD). The relatively recent discovery of the C9ORF72 repeat expansion in 2011 and the complexity of the mutation have meant that animal models that successfully recapitulate human C9ORF72 repeat expansion-mediated disease are only now emerging. Concurrent advances in the use of patient-derived induced pluripotent stem cells (iPSCs) to model aspects of neurological disease offers an additional approach for the study of C9ORF72 mutation...
July 2017: Brain Pathology
https://www.readbyqxmd.com/read/28585382/modeling-tau-pathology-in-human-stem-cell-derived-neurons
#20
Selina Wray
Tau pathology is a defining characteristic of multiple neurodegenerative disorders including Alzheimer's disease (AD) and Frontotemporal Dementia (FTD) with tau pathology. There is strong evidence from genetics and experimental models to support a central role for tau dysfunction in neuronal death, suggesting tau is a promising therapeutic target for AD and FTD. However, the development of tau pathology can precede symptom onset by several years, so understanding the earliest molecular events in tauopathy is a priority area of research...
July 2017: Brain Pathology
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