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Dementia frontotemporal

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https://www.readbyqxmd.com/read/28819009/the-aaa-atpase-p97-a-cellular-multitool
#1
REVIEW
Lasse Stach, Paul S Freemont
The AAA+ (ATPases associated with diverse cellular activities) ATPase p97 is essential to a wide range of cellular functions, including endoplasmic reticulum-associated degradation, membrane fusion, NF-κB (nuclear factor kappa-light-chain-enhancer of activated B cells) activation and chromatin-associated processes, which are regulated by ubiquitination. p97 acts downstream from ubiquitin signaling events and utilizes the energy from ATP hydrolysis to extract its substrate proteins from cellular structures or multiprotein complexes...
August 17, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28817800/tia1-mutations-in-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-promote-phase-separation-and-alter-stress-granule-dynamics
#2
Ian R Mackenzie, Alexandra M Nicholson, Mohona Sarkar, James Messing, Maria D Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B Perkerson, Aishe Kurti, Billie J Matchett, Tanja Mittag, Jamshid Temirov, Ging-Yuek R Hsiung, Charles Krieger, Melissa E Murray, Masato Kato, John D Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weintraub, Marsel Mesulam, Julia Keith, Sasha A Zivkovic, Veronica Hirsch-Reinshagen, Raymond P Roos, Stephan Züchner, Neill R Graff-Radford, Ronald C Petersen, Richard J Caselli, Zbigniew K Wszolek, Elizabeth Finger, Carol Lippa, David Lacomis, Heather Stewart, Dennis W Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen Bigio, Kevin B Boylan, J Paul Taylor, Rosa Rademakers
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10(-6)). Postmortem neuropathology of five TIA1 mutations carriers showed a consistent pathological signature with numerous round, hyaline, TAR DNA-binding protein 43 (TDP-43)-positive inclusions...
August 16, 2017: Neuron
https://www.readbyqxmd.com/read/28811259/should-i-trust-you-learning-and-memory-of-social-interactions-in-dementia
#3
Stephanie Wong, Muireann Irish, Claire O'Callaghan, Fiona Kumfor, Greg Savage, John R Hodges, Olivier Piguet, Michael Hornberger
Social relevance has an enhancing effect on learning and subsequent memory retrieval. The ability to learn from and remember social interactions may impact on susceptibility to financial exploitation, which is elevated in individuals with dementia. The current study aimed to investigate learning and memory of social interactions, the relationship between performance and financial vulnerability and the neural substrates underpinning performance in 14 Alzheimer's disease (AD) and 20 behavioural-variant frontotemporal dementia (bvFTD) patients and 20 age-matched healthy controls...
August 12, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28811257/auditory-conflict-and-congruence-in-frontotemporal-dementia
#4
Camilla N Clark, Jennifer M Nicholas, Jennifer L Agustus, Christopher J D Hardy, Lucy L Russell, Emilie V Brotherhood, Katrina M Dick, Charles R Marshall, Catherine J Mummery, Jonathan D Rohrer, Jason D Warren
Impaired analysis of signal conflict and congruence may contribute to diverse socio-emotional symptoms in frontotemporal dementias, however the underlying mechanisms have not been defined. Here we addressed this issue in patients with behavioural variant frontotemporal dementia (bvFTD; n=19) and semantic dementia (SD; n=10) relative to healthy older individuals (n=20). We created auditory scenes in which semantic and emotional congruity of constituent sounds were independently probed; associated tasks controlled for auditory perceptual similarity, scene parsing and semantic competence...
August 12, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#5
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/28795386/dementia-caregiver-burden-a-research-update-and-critical-analysis
#6
REVIEW
Sheung-Tak Cheng
PURPOSE OF REVIEW: This article provides an updated review of the determinants of caregiver burden and depression, with a focus on care demands and especially the differential effects of various neuropsychiatric symptoms or symptom clusters. Moreover, studies on caregivers for frontotemporal and Lewy body dementias were referred to in order to identify differences and similarities with the mainstream literature based largely on Alzheimer caregivers. RECENT FINDINGS: As a group, neuropsychiatric symptoms are most predictive of caregiver burden and depression regardless of dementia diagnosis, but the effects appear to be driven primarily by disruptive behaviors (e...
August 10, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28793933/can-cognitive-assessment-really-discriminate-early-stages-of-alzheimer-s-and-behavioural-variant-frontotemporal-dementia-at-initial-clinical-presentation
#7
Sophia Reul, Hubertus Lohmann, Heinz Wiendl, Thomas Duning, Andreas Johnen
BACKGROUND: Neuropsychological testing is considered crucial for differential diagnosis of Alzheimer's disease (AD) and behavioural variant frontotemporal dementia (bvFTD). In-depth neuropsychological assessment revealed specific dysfunctions in the two dementia syndromes. However, a significant overlap of cognitive impairments exists in early disease stages. We questioned whether a standard neuropsychological assessment at initial clinical presentation can delineate patients with AD versus bvFTD...
August 9, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28790177/phosphorylation-of-the-fus-low-complexity-domain-disrupts-phase-separation-aggregation-and-toxicity
#8
Zachary Monahan, Veronica H Ryan, Abigail M Janke, Kathleen A Burke, Shannon N Rhoads, Gül H Zerze, Robert O'Meally, Gregory L Dignon, Alexander E Conicella, Wenwei Zheng, Robert B Best, Robert N Cole, Jeetain Mittal, Frank Shewmaker, Nicolas L Fawzi
Neuronal inclusions of aggregated RNA-binding protein fused in sarcoma (FUS) are hallmarks of ALS and frontotemporal dementia subtypes. Intriguingly, FUS's nearly uncharged, aggregation-prone, yeast prion-like, low sequence-complexity domain (LC) is known to be targeted for phosphorylation. Here we map in vitro and in-cell phosphorylation sites across FUS LC We show that both phosphorylation and phosphomimetic variants reduce its aggregation-prone/prion-like character, disrupting FUS phase separation in the presence of RNA or salt and reducing FUS propensity to aggregate...
August 8, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28776681/another-piece-in-the-progranulin-puzzle-special-binding-between-progranulin-and-prosaposin-creates-additional-lysosomal-access-an-editorial-comment-for-the-interaction-between-progranulin-and-prosaposin-is-mediated-by-granulins-and-the-linker-region-between
#9
EDITORIAL
Philip Van Damme
Loss-of-function mutations in the gene encoding the growth factor progranulin cause degeneration of the ageing brain in a dose-dependent manner. While heterozygous mutations result in adult onset frontotemporal dementia, the much rarer homozygous null mutations cause an early onset lysosomal storage disorder. A better understanding of the biology of progranulin in the central nervous system is needed to find solutions for these incurable diseases. This Editorial highlights a study by Zhou et al. in the current issue of the Journal of Neurochemistry, in which the authors provide data that are a step towards this goal...
August 4, 2017: Journal of Neurochemistry
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
#10
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/28751743/anti-ampa-glua3-antibodies-in-frontotemporal-dementia-a-new-molecular-target
#11
B Borroni, J Stanic, C Verpelli, M Mellone, E Bonomi, A Alberici, P Bernasconi, L Culotta, E Zianni, S Archetti, M Manes, S Gazzina, R Ghidoni, L Benussi, C Stuani, M Di Luca, C Sala, E Buratti, A Padovani, F Gardoni
Frontotemporal Dementia (FTD) is a neurodegenerative disorder mainly characterised by Tau or TDP43 inclusions. A co-autoimmune aetiology has been hypothesised. In this study, we aimed at defining the pathogenetic role of anti-AMPA GluA3 antibodies in FTD. Serum and cerebrospinal fluid (CSF) anti-GluA3 antibody dosage was carried out and the effect of CSF with and without anti-GluA3 antibodies was tested in rat hippocampal neuronal primary cultures and in differentiated neurons from human induced pluripotent stem cells (hiPSCs)...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28750498/emerging-clinical-issues-and-multivariate-analyses-in-pet-investigations
#12
Javier Arbizu, Alessandro Giuliani, Jaime G Perez-Larraya, Mario Riverol, Cathrine Jonsson, Berta García-García, Maribel Morales, Laura Imaz, Marco Pagani
PET using 18F-2-fluoro-2-deoxy-D-glucose (FDG-PET) has been gradually introduced in the diagnostic clinical criteria of the most prevalent neurodegenerative diseases. Moreover, an increasing amount of literature have shown that the information provided by FDG-PET enhances the sensitivity of standard imaging biomarkers in less frequent disorders in which an early differential diagnosis can be of paramount relevance for patient management and outcome. Therefore emerging uses of FDG-PET may be important in prion diseases, autoimmune encephalitis and amyotrophic lateral sclerosis...
July 27, 2017: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28749476/the-wide-genetic-landscape-of-clinical-frontotemporal-dementia-systematic-combined-sequencing-of-121-consecutive-subjects
#13
Cornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, Iris E Jansen, Anika Reifschneider, Anja Capell, Christian Haass, Melissa Castillo-Lizardo, Saskia Biskup, Walter Maetzler, Patrizia Rizzu, Peter Heutink, Matthis Synofzik
PurposeTo define the genetic spectrum and relative gene frequencies underlying clinical frontotemporal dementia (FTD).MethodsWe investigated the frequencies and mutations in neurodegenerative disease genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, complemented by cerebrospinal fluid Aβ1-42 and serum progranulin measurements. Subjects were screened for C9orf72 repeat expansions, GRN and MAPT mutations, and, if negative, mutations in other neurodegenerative disease genes, by whole-exome sequencing (WES) (n = 108), including WES-based copy-number variant (CNV) analysis...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749089/cognitive-deficits-in-patients-with-neuropsychiatric-symptoms-a-comparative-study-between-behavioral-variant-frontotemporal-dementia-and-primary-psychiatric-disorders
#14
Everard G B Vijverberg, Sigfried Schouws, Paul David Meesters, Esmée Verwijk, Hannie Comijs, Ted Koene, Charlotte Schreuder, Aartjan Beekman, Philip Scheltens, Max Stek, Yolande Pijnenburg, Annemieke Dols
OBJECTIVE: To compare neuropsychological profiles in behavioral variant frontotemporal dementia (bvFTD) with its most common primary psychiatric differential diagnoses, major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia, in older patients with active symptoms. METHODS: We included patients from different cohorts with MDD (DSM-IV-TR: 296.20-296.23, 296.30-296.33; n = 42; mean ± SD age, 72.0 ± 8.0 years; female = 57.1%) included from 2002 to 2007, noneuthymic BD (DSM-IV-TR: 296...
July 25, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28748674/prognosis-of-patients-with-behavioral-variant-frontotemporal-dementia-who-have-focal-versus-diffuse-frontal-atrophy
#15
Jin San Lee, Na Yeon Jung, Young Kyoung Jang, Hee Jin Kim, Sang Won Seo, Juyoun Lee, Yeo Jin Kim, Jae Hong Lee, Byeong C Kim, Kyung Won Park, Soo Jin Yoon, Jee H Jeong, Sang Yun Kim, Seung Hyun Kim, Eun Joo Kim, Key Chung Park, David S Knopman, Duk L Na
BACKGROUND AND PURPOSE: Only a few studies have investigated the relationship between different subtypes and disease progression or prognosis in patients with behavioral variant frontotemporal dementia (bvFTD). Since a localized injury often produces more focal signs than a diffuse injury, we hypothesized that the clinical characteristics differ between patients with bvFTD who show diffuse frontal lobe atrophy (D-type) on axial magnetic resonance imaging (MRI) scans versus those with focal or circumscribed frontal lobe atrophy (F-type)...
July 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28747446/transcranial-magnetic-stimulation-distinguishes-alzheimer-disease-from-frontotemporal-dementia
#16
Alberto Benussi, Francesco Di Lorenzo, Valentina Dell'Era, Maura Cosseddu, Antonella Alberici, Salvatore Caratozzolo, Maria Sofia Cotelli, Anna Micheli, Luca Rozzini, Alessandro Depari, Alessandra Flammini, Viviana Ponzo, Alessandro Martorana, Carlo Caltagirone, Alessandro Padovani, Giacomo Koch, Barbara Borroni
OBJECTIVE: To determine whether a transcranial magnetic stimulation (TMS) multiparadigm approach can be used to distinguish Alzheimer disease (AD) from frontotemporal dementia (FTD). METHODS: Paired-pulse TMS was used to investigate short-interval intracortical inhibition (SICI) and facilitation (ICF), long-interval intracortical inhibition, and short-latency afferent inhibition (SAI) to measure the activity of different intracortical circuits in patients with AD, patients with FTD, and healthy controls (HC)...
July 26, 2017: Neurology
https://www.readbyqxmd.com/read/28745408/a-case-of-frontotemporal-dementia-with-sexual-disinhibition-controlled-by-aripiprazole
#17
Hiroshi Nomoto, Yoichiro Matsubara, Yosuke Ichimiya, Heii Arai
No abstract text is available yet for this article.
July 26, 2017: Psychogeriatrics: the Official Journal of the Japanese Psychogeriatric Society
https://www.readbyqxmd.com/read/28745227/frontotemporal-lobar-degeneration-review-and-update-for-clinical-neurologists
#18
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/28745069/a-case-series-of-pls-patients-with-frontotemporal-dementia-and-overview-of-the-literature
#19
Bálint S de Vries, Laura M M Rustemeijer, Anneke J van der Kooi, Joost Raaphorst, Carin D Schröder, Tanja C W Nijboer, Jeroen Hendrikse, Jan H Veldink, Leonard H van den Berg, Michael A van Es
OBJECTIVE: Primary lateral sclerosis (PLS) is a rare form of motor neuron disease characterised by UMN degeneration leading to slowly progressive spasticity. Whether it is a separate disease or a subtype of ALS has been debated. In ALS comorbid frontotemporal dementia (FTD) is frequently seen (±15%). However, cognitive and behavioural changes are generally not considered to be a part of PLS. METHODS: To report the clinical findings and frequency of PLS patients that developed FTD in a referral-based cohort and provide an overview of the literature...
July 26, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28744202/rna-misprocessing-in-c9orf72-linked-neurodegeneration
#20
REVIEW
Holly V Barker, Michael Niblock, Youn-Bok Lee, Christopher E Shaw, Jean-Marc Gallo
A large GGGGCC hexanucleotide repeat expansion in the first intron or promoter region of the C9orf72 gene is the most common genetic cause of familial and sporadic Amyotrophic lateral sclerosis (ALS), a devastating degenerative disease of motor neurons, and of Frontotemporal Dementia (FTD), the second most common form of presenile dementia after Alzheimer's disease. C9orf72-associated ALS/FTD is a multifaceted disease both in terms of its clinical presentation and the misregulated cellular pathways contributing to disease progression...
2017: Frontiers in Cellular Neuroscience
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