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https://www.readbyqxmd.com/read/29780858/can-visuospatial-measures-improve-the-diagnosis-of-alzheimer-s-disease
#1
REVIEW
Shirin Salimi, Muireann Irish, David Foxe, John R Hodges, Olivier Piguet, James R Burrell
Introduction: Overlapping and evolving symptoms lead to ambiguity in the diagnosis of dementia. Visuospatial function relies on parietal lobe function, which may be affected in the early stages of Alzheimer's disease (AD). This review evaluates visuospatial dysfunction in patients with AD, frontotemporal dementia, dementia with Lewy bodies, and vascular dementia to determine the diagnostic and prognostic potential of visuospatial tasks in AD. Methods: A systematic search of studies (1960-2016) investigating visuospatial dysfunction in dementia was conducted...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
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
#2
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
#3
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
#4
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/29773329/mutation-screening-of-the-tia1-gene-in-chinese-patients-with-amyotrophic-lateral-sclerosis-frontotemporal-dementia
#5
XiaoJing Gu, YongPing Chen, QianQian Wei, Bei Cao, RuWei Ou, XiaoQin Yuan, YanBin Hou, LingYu Zhang, Hui Liu, XuePing Chen, Hui-Fang Shang
Mutations in the low-complexity domain (LCD) of T-cell intracellular antigen-1 (TIA1) have been reported to be associated with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) in the Caucasian population. In the present study, we aimed to screen mutations in the LCD (exon 11-13) of TIA1 and determine the mutation frequency in Chinese ALS/FTD patients. A total of 740 ALS patients, including 721 sporadic ALS (sALS), 19 familial ALS, 24 FTD patients, and 501 healthy controls, were directly sequenced...
April 24, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29770287/ultra-early-optic-nerve-decompression-for-the-resection-of-anterior-clinoidal-meningioma
#6
Soichi Oya, Toru Matsui
Improvement in vision is one of the main goals of surgery for anterior clinoidal meningiomas with visual deficits. Early optic nerve decompression surgery has been advocated in previous studies to achieve the best visual outcome. Through this video, the authors describe their surgical techniques to decompress the optic nerve at the very early stage of surgery. A 35-year-old patient presented with subjective blurry vision in the right eye over the last 8 months. Magnetic resonance images showed a 3.2-cm meningioma arising at the right anterior clinoid...
February 2018: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29769783/trichotillomania-ranging-from-ritual-to-illness-and-as-a-rare-clinical-manifestation-of-frontotemporal-dementia-review-of-literature-and-case-report
#7
Thomas Gregor Issac, Ashay Vivek Telang, Sadanandavalli Retnaswami Chandra
Frontotemporal dementia (FTD) is the most common form of dementia in the younger age group and often exists with comorbid obsessions and compulsions in up to 80% of the patients. Trichotillomania or compulsive "hair-pulling" disorder is a rare manifestation of FTD and is a poorly evaluated symptom in this condition. The release of "grooming functions" due to frontal disinhibition is often attributed to the evolutionary perspective; however, recent findings also implicate the role of neurotransmitter dysfunction...
March 2018: International Journal of Trichology
https://www.readbyqxmd.com/read/29762648/a-new-framework-for-conceptualizing-symptoms-in-frontotemporal-dementia-from-animal-models-to-the-clinic
#8
Stephanie Wong, Bernard W Balleine, Fiona Kumfor
Behavioural-variant frontotemporal dementia is characterized by a number of ostensibly disparate clinical features, which have largely been considered independently. This Update proposes an integrated conceptual framework for these symptoms, by bringing together findings from animal studies, functional neuroimaging and behavioural neurology. The combined evidence indicates that many of the clinical symptoms--such as altered eating behaviour; overspending and susceptibility to scams; reduced empathy and socially inappropriate behaviour; apathy and stereotyped/ritualistic behaviour--can be conceptualized as a common underlying deficiency in goal-directed behaviour and the concomitant emergence of habits...
May 11, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29761124/progranulin-levels-in-blood-in-alzheimer-s-disease-and-mild-cognitive-impairment
#9
Yonatan A Cooper, Daniel Nachun, Deepika Dokuru, Zhongan Yang, Anna M Karydas, Ginette Serrero, Binbin Yue, Adam L Boxer, Bruce L Miller, Giovanni Coppola
Objective: Changes in progranulin ( GRN ) expression have been hypothesized to alter risk for Alzheimer's disease (AD). We investigated the relationship between GRN expression in peripheral blood and clinical diagnosis of AD and mild cognitive impairment (MCI). Methods: Peripheral blood progranulin gene expression was measured, using microarrays from Alzheimer's ( n = 186), MCI ( n = 118), and control ( n = 204) subjects from the University of California San Francisco Memory and Aging Center (UCSF-MAC) and two independent published series (AddNeuroMed and ADNI)...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761121/poly-gp-neurofilament-and-grey-matter-deficits-in-c9orf72-expansion-carriers
#10
Lieke H H Meeter, Tania F Gendron, Ana C Sias, Lize C Jiskoot, Silvia P Russo, Laura Donker Kaat, Janne M Papma, Jessica L Panman, Emma L van der Ende, Elise G Dopper, Sanne Franzen, Caroline Graff, Adam L Boxer, Howard J Rosen, Raquel Sanchez-Valle, Daniela Galimberti, Yolande A L Pijnenburg, Luisa Benussi, Roberta Ghidoni, Barbara Borroni, Robert Laforce, Marta Del Campo, Charlotte E Teunissen, Rick van Minkelen, Julio C Rojas, Giovanni Coppola, Dan H Geschwind, Rosa Rademakers, Anna M Karydas, Linn Öijerstedt, Elio Scarpini, Giuliano Binetti, Alessandro Padovani, David M Cash, Katrina M Dick, Martina Bocchetta, Bruce L Miller, Jonathan D Rohrer, Leonard Petrucelli, John C van Swieten, Suzee E Lee
Objective: To evaluate poly(GP), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72- associated frontotemporal dementia. Additionally, to investigate the relationship of poly(GP) with indicators of neurodegeneration as measured by NfL and grey matter volume. Methods: We measured poly(GP) and NfL levels in cerebrospinal fluid (CSF) from 25 presymptomatic C9orf72 expansion carriers, 64 symptomatic expansion carriers with dementia, and 12 noncarriers...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29760392/author-correction-susceptible-genes-and-disease-mechanisms-identified-in-frontotemporal-dementia-and-frontotemporal-dementia-with-amyotrophic-lateral-sclerosis-by-dna-methylation-and-gwas
#11
E Taskesen, A Mishra, S van der Sluis, R Ferrari, J H Veldink, M A van Es, A B Smit, D Posthuma, Y Pijnenburg
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
May 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29760288/-neuropathologic-subtypes-of-frontotemporal-lobar-degeneration
#12
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/29760282/the-c-elegans-ortholog-of-tdp-43-regulates-the-chromatin-localization-of-the-heterochromatin-protein-1-homolog-hpl-2
#13
Tassa K Saldi, Patrick Gonzales, Alfonso Garrido-Lecca, Vishantie Dostal, Christine M Roberts, Leonard Petrucelli, Christopher D Link
TDP-1 is the C. elegans ortholog of mammalian TDP-43, which is strongly implicated in the etiology of Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). We discovered that deletion of the tdp-1 gene results in enhanced nuclear RNA interference (RNAi). As nuclear RNAi in C. elegans involves chromatin changes moderated by HPL-2, a homolog of heterochromatin protein 1 (HP1), we investigated the interaction of TDP-1 and HPL-2. We find that TDP-1 and HPL-2 interact directly, and loss of TDP-1 dramatically alters the chromatin association of HPL-2...
May 14, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29759822/multivariate-relationships-between-cognition-and-brain-anatomy-across-the-psychosis-spectrum
#14
Amanda L Rodrigue, Jennifer E McDowell, Neeraj Tandon, Matcheri S Keshavan, Carol A Tamminga, Godfrey D Pearlson, John A Sweeney, Robert D Gibbons, Brett A Clementz
BACKGROUND: Cognitive and structural brain abnormalities range from mild to severe in psychosis. The relation of specific cognitive functions to specific brain structures across the psychosis spectrum is less certain. METHODS: Participants (n = 678) with bipolar, schizoaffective, or schizophrenia psychoses and healthy control subjects were recruited via the Bipolar-Schizophrenia Network for Intermediate Phenotypes. The Schizo-Bipolar Scale was used to create a psychosis continuum (from purely affective to purely nonaffective)...
March 31, 2018: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29758948/argyrophilic-grain-pathology-in-frontotemporal-lobar-degeneration-demographic-clinical-neuropathological-and-genetic-features
#15
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/29756462/lgi1-antibody-encephalitis-and-psychosis
#16
Dahai Wang, Qinjian Hao, Lan He, Qiang Wang
OBJECTIVE: To describe a case of leucine-rich, glioma inactivated 1 antibody-encephalitis presenting with psychosis. METHODS: Case report. RESULTS: A young man with leucine-rich, glioma inactivated 1-antibody encephalitis initially presented with acute psychotic symptoms, short-term memory loss and faciobrachial dystonic seizures. Magnetic resonance imaging revealed hippocampal lesions. Electroencephalography revealed frontotemporal slowing of background activity...
May 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/29755516/synaptic-paths-to-neurodegeneration-the-emerging-role-of-tdp-43-and-fus-in-synaptic-functions
#17
REVIEW
Shuo-Chien Ling
TAR DNA-binding protein-43 KDa (TDP-43) and fused in sarcoma (FUS) as the defining pathological hallmarks for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), coupled with ALS-FTD-causing mutations in both genes, indicate that their dysfunctions damage the motor system and cognition. On the molecular level, TDP-43 and FUS participate in the biogenesis and metabolism of coding and noncoding RNAs as well as in the transport and translation of mRNAs as part of cytoplasmic mRNA-ribonucleoprotein (mRNP) granules...
2018: Neural Plasticity
https://www.readbyqxmd.com/read/29755341/plasma-biomarkers-differentiate-parkinson-s-disease-from-atypical-parkinsonism-syndromes
#18
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
#19
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/29755290/retromer-dysfunction-and-neurodegenerative-disease
#20
REVIEW
Christiane Reitz
In recent years, genomic, animal and cell biology studies have implicated deficiencies in retromer-mediated trafficking of proteins in an increasing number of neurodegenerative diseases including Alzheimer's Disease (AD), Parkinson's Disease (PD) and Frontotemporal Lobar Degener-ation (FTLD). The retromer complex, which is highly conserved across all eukaryotes, regulates the sorting of transmembrane proteins out of endo-somes to the cell surface or to the trans-Golgi network. Within retromer, cargo selection and binding are performed by a trimer of the Vps26, Vps29 and Vps35 proteins, named the "Cargo-Selective Complex (CSC)"...
May 2018: Current Genomics
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