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https://www.readbyqxmd.com/read/27920024/biology-and-pathobiology-of-tdp-43-and-emergent-therapeutic-strategies
#1
Lin Guo, James Shorter
Cytoplasmic TDP-43 mislocalization and aggregation is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. TDP-43 is an RNA-binding protein (RBP) with a prion-like domain (PrLD) that promotes TDP-43 misfolding. PrLDs possess compositional similarity to canonical prion domains of various yeast proteins, including Sup35. Strikingly, disease-causing TDP-43 mutations reside almost exclusively in the PrLD and can enhance TDP-43 misfolding and toxicity. Another ∼70 human RBPs harbor PrLDs, including FUS, TAF15, EWSR1, hnRNPA1, and hnRNPA2, which have surfaced in the etiology of neurodegenerative diseases...
December 5, 2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27915998/an-update-on-semantic-dementia-genetics-imaging-and-pathology
#2
REVIEW
Ramon Landin-Romero, Rachel Tan, John R Hodges, Fiona Kumfor
Progressive and relatively circumscribed loss of semantic knowledge, referred to as semantic dementia (SD) which falls under the broader umbrella of frontotemporal dementia, was officially identified as a clinical syndrome less than 50 years ago. Here, we review recent neuroimaging, pathological, and genetic research in SD. From a neuroimaging perspective, SD is characterised by hallmark asymmetrical atrophy of the anterior temporal pole and anterior fusiform gyrus, which is usually left lateralised. Functional magnetic resonance imaging (fMRI) studies have revealed widespread changes in connectivity, implicating the anterior temporal regions in semantic deficits in SD...
December 5, 2016: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/27915581/ftld-tdp-and-progressive-supranuclear-palsy-in-comorbidity-a-report-of-two-cases-with-different-clinical-presentations
#3
Kateřina Storey, Silvie Johanidesová, Radoslav Matěj, Jiří Keller, Zdeněk Rohan, Robert Rusina
Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices...
December 3, 2016: Neurocase
https://www.readbyqxmd.com/read/27910931/mutational-analysis-of-prnp-in-alzheimer-s-disease-and-frontotemporal-dementia-in-china
#4
Weiwei Zhang, Bin Jiao, Tingting Xiao, Chuzheng Pan, Xixi Liu, Lin Zhou, Beisha Tang, Lu Shen
The prion protein (PRNP) gene is associated with prion diseases, whereas variants of the PRNP gene may also explain some cases of Alzheimer disease (AD) and frontotemporal dementia (FTD) in Caucasian populations. To determine the prevalence of the PRNP gene in patients with AD and FTD in China, we screened all exons of the PRNP gene in a cohort of 683 cases (606 AD and 77 FTD) in the Chinese Han population and we detected a novel missense mutation p.S17G in a late-onset AD (LOAD) patient. Furthermore, we analyzed the PRNP M/V polymorphism at codon 129, which was previously reported as a risk factor...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27909398/an-amyloid-like-pathological-conformation-of-tdp-43-is-stabilized-by-hypercooperative-hydrogen-bonds
#5
Miguel Mompeán, Marco Baralle, Emanuele Buratti, Douglas V Laurents
TDP-43 is an essential RNA-binding protein forming aggregates in almost all cases of sporadic amyotrophic lateral sclerosis (ALS) and many cases of frontotemporal lobar dementia (FTLD) and other neurodegenerative diseases. TDP-43 consists of a folded N-terminal domain with a singular structure, two RRM RNA-binding domains, and a long disordered C-terminal region which plays roles in functional RNA regulatory assemblies as well as pernicious aggregation. Evidence from pathological mutations and seeding experiments strongly suggest that TDP-43 aggregates are pathologically relevant through toxic gain-of-harmful-function and/or harmful loss-of-native-function mechanisms...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27905268/mapt-mutation-associated-with-frontotemporal-dementia-and-parkinsonism-ftdp-17
#6
Robert Haussmann, Marek Wysocki, Moritz D Brandt, Andreas Hermann, Markus Donix
We present a 56-year-old patient suffering from frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). The history included a three-generation pedigree and the patient was found to be a mutation carrier. The diagnosis was hindered by late appearance of the hypokinetic movement disorder. For clinicians, it is important to consider rare neurodegenerative disease variants in early-onset familial dementia syndromes with behavioral, cognitive, and motor symptoms.
December 1, 2016: International Psychogeriatrics
https://www.readbyqxmd.com/read/27903706/phase-amplitude-coupling-and-long-range-phase-synchronization-reveal-frontotemporal-interactions-during-visual-working-memory
#7
Jonathan Daume, Thomas Gruber, Andreas K Engel, Uwe Friese
: It has been suggested that cross-frequency phase-amplitude coupling (PAC) particularly in temporal brain structures serves as a neural mechanism for coordinated working memory storage. In this magnetoencephalography study, we show that during visual working memory maintenance, temporal cortex regions, which exhibit enhanced PAC, interact with prefrontal cortex via enhanced low-frequency phase synchronization. Healthy human participants were engaged in a visual delayed-matching-to-sample task with pictures of natural objects...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27903134/o-glcnac-glycosylation-stoichiometry-of-the-fet-protein-family-only-ews-is-glycosylated-with-a-high-stoichiometry
#8
Kazuo Kamemura
Of the FET (fused in sarcoma [FUS]/Ewing sarcoma protein [EWS]/TATA binding protein-associated factor 15 [TAF15]) family of heterogeneous nuclear ribonucleoprotein particle proteins, FUS and TAF15 are consistently and EWS variably found in inclusion bodies in neurodegenerative diseases such as frontotemporal lobar degeneration associated with FUS. It is speculated that dysregulation of FET proteins at the post-translational level is involved in their cytoplasmic deposition. Here, the O-linked β-N-acetylglucosamine (O-GlcNAc) glycosylation stoichiometry of the FET proteins was chemoenzymatically analyzed, and it was found that only EWS is dynamically glycosylated with a high stoichiometry in the neural cell lines tested and in mouse brain...
December 1, 2016: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/27903133/emotional-quotient-in-frontotemporal-dementia-vs-alzheimer-s-disease-the-role-of-socioemotional-agnosia
#9
Andrew R Carr, Mersal S Samimi, Pongsatorn Paholpak, Elvira E Jimenez, Mario F Mendez
INTRODUCTION: Socioemotional dysfunction distinguishes behavioural variant frontotemporal dementia (bvFTD) from other dementias. Patients with bvFTD not only have early social impairment and emotional blunting, but they also have agnosia of their socioemotional dysfunction. METHODS: To investigate the relationship between agnosia and dysfunction, we assessed self-knowledge of socioemotional dysfunction with an emotional quotient (EQ) scale administered to 12 patients with bvFTD and a comparison group of 12 age-matched patients with Alzheimer's disease (AD), and compared these self-ratings to caregiver ratings of social dysfunction and emotional blunting...
November 30, 2016: Cognitive Neuropsychiatry
https://www.readbyqxmd.com/read/27899424/genetic-architecture-of-sporadic-frontotemporal-dementia-and-overlap-with-alzheimer-s-and-parkinson-s-diseases
#10
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, Parastoo Momeni, Gerard S Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between FTD, AD and PD to assess shared pathobiology and identify novel genetic variants associated with increased risk for FTD. METHODS: Summary statistics were obtained from the International FTD Genomics Consortium, International PD Genetics Consortium and International Genomics of AD Project (n>75 000 cases and controls)...
November 29, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27892983/association-of-mutations-in-tbk1-with-sporadic-and-familial-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#11
Axel Freischmidt, Kathrin Müller, Albert C Ludolph, Jochen H Weishaupt, Peter M Andersen
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative syndromes that occur sporadically or have been associated with mostly dominant inheritance of mutations in more than 30 genes. A critical issue is whether all reported mutations are disease causing or are coincidental findings. In this review we analyze the pathogenicity of nonsynonymous variants in the newly discovered gene encoding TANK-binding kinase 1 (TBK1). The available data suggest that mutations in TBK1 that cause a 50% reduction of TBK1 protein levels are pathogenic...
November 21, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27892698/the-relationship-between-oestrogen-and-executive-functioning-in-als-females-with-emerging-frontotemporal-lobar-degeneration-ftld-supports-a-neuroendocrine-model-of-ftld-attenuation
#12
C Flaherty, J Kraft, A Brothers, M Harrison, R S Legro, A Manni, C Yang, Z Simmons
OBJECTIVE: The prevalence of ALS cognitive or behavioural impairment (ci or bi) consistent with Frontotemporal Degeneration (FTLD) approachs 50%, while ∼5-10% progress to dementia. Our goal was to explore ci and bi differencs between bulbar and limb onset, as well as the neuroprotective potential of oestrogen in emerging FTLD. METHODS: We applied Mann Whitney U to evaluate differences in cognitive and behavioural profiles between site of onset in 78 female and 83 male non-demented ALS participants classified by current consensus criteria with ci...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27891726/everyday-conversation-in-dementia-a-review-of-the-literature-to-inform-research-and-practice
#13
REVIEW
Jacqueline Kindell, John Keady, Karen Sage, Ray Wilkinson
BACKGROUND: There has been increasing interest in dementia care in recent years, including how practitioners, service providers and society in general can help individuals to live well with the condition. An important aspect to this is provision of advice to ensure conversation partners effectively support the person with dementia in conversation. AIMS: To provide a descriptive review of the literature examining everyday conversation in dementia in order to inform practice and research...
November 27, 2016: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/27889911/multiregional-analysis-of-global-5-methylcytosine-and-5-hydroxymethylcytosine-throughout-the-progression-of-alzheimer-s-disease
#14
Elizabeth M Ellison, Erin L Abner, Mark A Lovell
Epigenetic modifications to cytosine are known to alter transcriptional states and deregulate gene expression in cancer, embryonic development, and most recently in neurodegeneration. To test the hypothesis that global levels of cytosine modification are altered throughout the progression of Alzheimer's disease, 5-methylcytosine (5-mC) and 5-hydroxmethylcytosine (5-hmC) were quantified using gas chromatography/mass spectrometry (GC/MS) and stable labeled internal standards of cytosine, 5-mC, and 5-hmC. Cytosine modifications were quantified in DNA extracted from tissue specimens of four brain regions (cerebellum, inferior parietal lobe, superior and middle temporal gyrus, and hippocampus/parahippocampal gyrus) of cognitively normal control (NC) subjects and subjects with mild cognitive impairment (MCI), preclinical Alzheimer's disease (PCAD), late onset Alzheimer's disease (LOAD), frontotemporal lobar degeneration (FTLD) and dementia with Lewy bodies (DLB)...
November 27, 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27878525/genetics-of-frontotemporal-dementia
#15
REVIEW
Diana A Olszewska, Roisin Lonergan, Emer M Fallon, Tim Lynch
Frontotemporal dementia (FTD) is the second most common cause of dementia following Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT, GRN and C9orf72 are found in 60% of familial FTD cases. C9orf72 mutations are the most common and account for 25%. Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, FUS, ITM2B, TBK1 and TBP. The diagnosis is often challenging due to symptom overlap with AD and other conditions. We review the genetics, clinical presentations, neuroimaging, neuropathology, animal studies and therapeutic trials in FTD...
December 2016: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/27877154/immununochemical-markers-of-the-amyloid-cascade-in-the-hippocampus-in-motor-neuron-diseases
#16
Ulises Gómez-Pinedo, Rocio N Villar-Quiles, Lucia Galán, Jordi A Matías-Guiu, Maria S Benito-Martin, Antonio Guerrero-Sola, Teresa Moreno-Ramos, Jorge Matías-Guiu
BACKGROUND: Several findings suggest that the amyloid precursor protein (APP) and the amyloid cascade may play a role in motor neuron disease (MND). OBJECTIVE: Considering that dementia is one of the most frequent non-motor symptoms in amyotrophic lateral sclerosis (ALS) and that hippocampus is one of the brain areas with greater presence of amyloid-related changes in neurodegenerative diseases, our aim was to analyze the molecular markers of the amyloid cascade of APP in pathology studies of the hippocampus of autopsied patients with ALS and ALS-frontotemporal dementia (FTD)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27877110/forward-genetic-screen-in-caenorhabditis-elegans-suggests-f57a10-2-and-acp-4-as-suppressors-of-c9orf72-related-phenotypes
#17
Xin Wang, Limin Hao, Taixiang Saur, Katelyn Joyal, Ying Zhao, Desheng Zhai, Jie Li, Mochtar Pribadi, Giovanni Coppola, Bruce M Cohen, Edgar A Buttner
An abnormally expanded GGGGCC repeat in C9ORF72 is the most frequent causal mutation associated with amyotrophic lateral sclerosis (ALS)/frontotemporal lobar degeneration (FTLD). Both gain-of-function (gf) and loss-of-function (lf) mechanisms have been involved in C9ORF72 related ALS/FTLD. The gf mechanism of C9ORF72 has been studied in various animal models but not in C. elegans. In the present study, we described mutant C9ORF72 modeling in C. elegans and report the finding of two suppressor genes. We made transgenes containing 9 or 29 repeats of GGGGCC in C9ORF72, driven by either the hsp-16 promoters or the unc-119 promoter...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27875531/loss-of-c9orf72-enhances-autophagic-activity-via-deregulated-mtor-and-tfeb-signaling
#18
Janet Ugolino, Yon Ju Ji, Karen Conchina, Justin Chu, Raja Sekhar Nirujogi, Akhilesh Pandey, Nathan R Brady, Anne Hamacher-Brady, Jiou Wang
The most common cause of the neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia is a hexanucleotide repeat expansion in C9orf72. Here we report a study of the C9orf72 protein by examining the consequences of loss of C9orf72 functions. Deletion of one or both alleles of the C9orf72 gene in mice causes age-dependent lethality phenotypes. We demonstrate that C9orf72 regulates nutrient sensing as the loss of C9orf72 decreases phosphorylation of the mTOR substrate S6K1. The transcription factor EB (TFEB), a master regulator of lysosomal and autophagy genes, which is negatively regulated by mTOR, is substantially up-regulated in C9orf72 loss-of-function animal and cellular models...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27871212/contributions-of-triggering-receptor-expressed-on-myeloid-cells-2-to-neurological-diseases
#19
Jie Han, Miaomiao Wang, Manru Ren, Haiyan Lou
Recent laboratory and gene sequencing data suggest that variations in receptors called the "triggering-receptors-expressed-on-myeloid-cells" (TREMs), are implicated in Alzheimer's disease, Parkinson's disease, multiple sclerosis, and frontotemporal lobar degeneration. TREM receptors are thought to play a critical role in regulating the immune system, inflammation, and certain cellular functions. One TREM in particular, TREM2, is highly expressed on cells of the myeloid lineage. The binding of TREM2 to the adapter protein, DNAX activating protein of 12 kD (DAP12), in microglial cells has been shown to modulate phagocytosis within the nervous system...
November 22, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27866665/-giant-cell-reparative-tumor-an-exceptional-differential-diagnosis-for-a-lytic-lesion-of-the-temporal-bone
#20
F Bernard, L Troude, C Bouvier, P-H Roche
BACKGROUND AND IMPORTANCE: Giant cell reparative granuloma is a very rare benign osteolytic lesion. It typically arises in the mandible and rarely involves the skull. CLINICAL PRESENTATION: A 25-year-old male was admitted in August 2002 for a painless left preauricular mass of several months duration. CT scan revealed an osteolytic extradural lesion located in the temporal bone, with extension to infratemporal fossa. We performed a surgical partial resection of the tumour via a frontotemporal approach...
December 2016: Neuro-Chirurgie
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