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C9orf72

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https://www.readbyqxmd.com/read/28533210/specific-biomarkers-for-c9orf72-ftd-als-could-expedite-the-journey-towards-effective-therapies
#1
Rubika Balendra, Thomas G Moens, Adrian M Isaacs
No abstract text is available yet for this article.
May 22, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28529876/pathology-of-callosal-damage-in-als-an-ex-vivo-7%C3%A2-t-diffusion-tensor-mri-study
#2
Agustin M Cardenas, Joelle E Sarlls, Justin Y Kwan, Devin Bageac, Zachary S Gala, Laura E Danielian, Abhik Ray-Chaudhury, Hao-Wei Wang, Karla L Miller, Sean Foxley, Saad Jbabdi, Robert C Welsh, Mary Kay Floeter
OBJECTIVES: The goal of this study was to better understand the changes in tissue microstructure that underlie white matter diffusion changes in ALS patients. METHODS: Diffusion tensor imaging was carried out in postmortem brains of 4 ALS patients and two subjects without neurological disease on a 7 T MRI scanner using steady-state free precession sequences. Fractional anisotropy (FA) was measured in the genu, body, and splenium of the corpus callosum in formalin-fixed hemispheres...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28529873/white-matter-hyperintensities-are-seen-only-in-grn-mutation-carriers-in-the-genfi-cohort
#3
Carole H Sudre, Martina Bocchetta, David Cash, David L Thomas, Ione Woollacott, Katrina M Dick, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Sébastien Ourselin, M Jorge Cardoso, Jonathan D Rohrer
Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported the presence of cerebral white matter hyperintensities (WMH) in genetic FTD but this has not been systematically studied across the different mutations. In this study WMH were assessed in 180 participants from the Genetic FTD Initiative (GENFI) with 3D T1- and T2-weighed magnetic resonance images: 43 symptomatic (7 GRN, 13 MAPT and 23 C9orf72), 61 presymptomatic mutation carriers (25 GRN, 8 MAPT and 28 C9orf72) and 76 mutation negative non-carrier family members...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28527524/c9orf72-hexanucleotide-repeat-expansions-and-ataxin-2-intermediate-length-repeat-expansions-in-indian-patients-with-amyotrophic-lateral-sclerosis
#4
Priyam Narain, James Gomes, Rohit Bhatia, Inder Singh, Perumal Vivekanandan
Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in the Caucasian population. Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS in North America and Europe. We screened 131 ALS patients and 127 healthy controls from India for C9orf72 and ATXN2 repeat expansions. We found pathogenic hexanucleotide expansions in 3 of the 127 sporadic ALS patients, in 1 of the 4 familial ALS patients, and in none of the healthy controls...
April 26, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28522837/age-related-penetrance-of-the-c9orf72-repeat-expansion
#5
Natalie A Murphy, Karissa C Arthur, Pentti J Tienari, Henry Houlden, Adriano Chiò, Bryan J Traynor
A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing disease in their twenties and a small portion of carriers surviving to their ninth decade without developing symptoms. Describing penetrance by age among C9orf72 carriers and identifying parameters that alter onset age are essential to better understanding this locus and to enhance predictive counseling...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28521037/clinical-significance-of-tdp-43-neuropathology-in-amyotrophic-lateral-sclerosis
#6
Matthew D Cykowski, Suzanne Z Powell, Leif E Peterson, Joan W Appel, Andreana L Rivera, Hidehiro Takei, Ellen Chang, Stanley H Appel
To determine the significance of TAR DNA binding protein 43 kDa (TDP-43) pathology in amyotrophic lateral sclerosis (ALS), we examined the whole brains and spinal cords of 57 patients (35 men; 22 women; mean age 63.3 years; 15 patients with c9orf72-associated ALS [c9ALS]). TDP-43 pathologic burden was determined relative to symptom onset site, disease duration, progression rate, cognitive status, and c9ALS status. There was a trend for greater TDP-43 pathologic burden in cognitively impaired patients (p = 0...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28508101/in-depth-clinico-pathological-examination-of-rna-foci-in-a-large-cohort-of-c9orf72-expansion-carriers
#7
Mariely DeJesus-Hernandez, NiCole A Finch, Xue Wang, Tania F Gendron, Kevin F Bieniek, Michael G Heckman, Aliaksei Vasilevich, Melissa E Murray, Linda Rousseau, Rachael Weesner, Anthony Lucido, Meeia Parsons, Jeannie Chew, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Bradley F Boeve, Neill R Graff-Radford, Jan de Boer, Yan W Asmann, Leonard Petrucelli, Kevin B Boylan, Dennis W Dickson, Marka van Blitterswijk, Rosa Rademakers
A growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 (C9ORF72) expression, formation of dipeptide-repeat proteins, and generation of RNA foci contribute to disease pathogenesis in amyotrophic lateral sclerosis and frontotemporal dementia. Although the levels of C9ORF72 transcripts and dipeptide-repeat proteins have already been examined thoroughly, much remains unknown about the role of RNA foci in C9ORF72-linked diseases. As such, we performed a comprehensive RNA foci study in an extensive pathological cohort of C9ORF72 expansion carriers (n = 63)...
May 15, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28491898/a-cross-sectional-population-based-investigation-into-behavioral-change-in-amyotrophic-lateral-sclerosis-subphenotypes-staging-cognitive-predictors-and-survival
#8
Tom Burke, Marta Pinto-Grau, Katie Lonergan, Peter Bede, Meabhdh O'Sullivan, Mark Heverin, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman
OBJECTIVE: Amyotrophic Lateral Sclerosis (ALS) is a clinically heterogeneous neurodegenerative disorder associated with cognitive and behavioral impairment. The primary aim of this study was to identify behavioral subphenotypes in ALS using a custom designed behavioral assessment tool (Beaumont Behavioural Inventory, BBI). Secondary aims were to (1) investigate the predictive nature of cognitive assessment on behavioral change, (2) report the behavioral profile associated with the C9orf72 expansion, (3) categorize behavioral change through disease staging, and (4) to investigate the relationship between cross-sectional behavioral classification and survival...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28482638/von-economo-neuron-density-and-thalamus-volumes-in-behavioral-deficits-in-frontotemporal-dementia-cases-with-and-without-a-c9orf72-repeat-expansion
#9
Yue Yang, Glenda M Halliday, John R Hodges, Rachel H Tan
BACKGROUND: The early and selective loss of von Economo neurons in the anterior cingulate cortex has been linked to behavioral deficits in frontotemporal dementia (FTD). Importantly, whether these neurons are also targeted in patients with the C9ORF72 repeat expansion has yet to be established. This is of particular interest given the recent evidence highlighting the thalamus rather than anterior cingulate cortex as a region of significant degeneration in patients with the C9ORF72 repeat expansion...
May 5, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28481984/the-dna-damage-response-ddr-is-induced-by-the-c9orf72-repeat-expansion-in-amyotrophic-lateral-sclerosis
#10
Manal A Farg, Anna Konopka, Kai Ying Soo, Daisuke Ito, Julie D Atkin
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease affecting motor neurons. Hexanucleotide (GGGGCC) repeat expansions in a non-coding region of C9orf72 are the major cause of familial ALS and frontotemporal dementia (FTD) worldwide. The C9orf72 repeat expansion undergoes repeat-associated non-ATG (RAN) translation to produce five dipeptide repeat proteins (DRPs), including poly(GR) and poly(PR). Whilst it remains unclear how mutations in C9orf72 lead to neurodegeneration in ALS/FTD, dysfunction to the nucleolus and R loop formation are implicated as pathogenic mechanisms...
May 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28468939/modelling-amyotrophic-lateral-sclerosis-progress-and-possibilities
#11
REVIEW
Philip Van Damme, Wim Robberecht, Ludo Van Den Bosch
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the motor system and presents with progressive muscle weakness. Most patients survive for only 2-5 years after disease onset, often due to failure of the respiratory muscles. ALS is a familial disease in ∼10% of patients, with the remaining 90% developing sporadic ALS. Over the past decade, major advances have been made in our understanding of the genetics and neuropathology of ALS. To date, around 20 genes are associated with ALS, with the most common causes of typical ALS associated with mutations in SOD1, TARDBP, FUS and C9orf72 Advances in our understanding of the genetic basis of ALS have led to the creation of different models of this disease...
May 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28466142/reappraisal-of-tdp-43-pathology-in-ftld-u-subtypes
#12
Ian R Mackenzie, Manuela Neumann
Frontotemporal lobar degeneration with tau-negative, ubiquitin-immunoreactive (-ir) pathology (FTLD-U) is subclassified based on the type and cortical laminar distribution of neuronal inclusions. Following the discovery of the transactive response DNA-binding protein Mr 43 kD (TDP-43) as the ubiquitinated protein in most FTLD-U, the same pathological criteria have been used to classify FTLD cases based on TDP-43-ir changes. However, the fact that immunohistochemistry (IHC) for ubiquitin and TDP-43 each recognizes slightly different pathological changes in these cases means that the original FTLD-U subtype criteria may not be directly applicable for use with TDP-43 IHC...
May 2, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28462717/genetic-features-of-mapt-grn-c9orf72-and-chchd10-gene-mutations-in-chinese-patients-with-frontotemporal-dementia
#13
Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Gang Wang, Qi-Hao Guo
Mutations in microtubule associated protein tau (MAPT), progranulin (GRN), chromosome 9 open-reading frame 72 (C9orf72) and CHCHD10 genes have been reported causing frontotemporal dementia (FTD) in different populations. However, collective analysis of mutations in these four genes in Chinese FTD patients has not been reported yet. The aim of this study was to investigate the geneticfeatures of Chinese patients with MAPT, PGRN, C9orf72 or CHCHD10 gene mutations in a FTD cohort recruited from multi clinical centers in Shanghai metropolitan areas, China...
April 25, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28460069/cognitive-reserve-and-tmem106b-genotype-modulate-brain-damage-in-presymptomatic-frontotemporal-dementia-a-genfi-study
#14
Enrico Premi, Mario Grassi, John van Swieten, Daniela Galimberti, Caroline Graff, Mario Masellis, Carmela Tartaglia, Fabrizio Tagliavini, James B Rowe, Robert Laforce, Elizabeth Finger, Giovanni B Frisoni, Alexandre de Mendonça, Sandro Sorbi, Stefano Gazzina, Maura Cosseddu, Silvana Archetti, Roberto Gasparotti, Marta Manes, Antonella Alberici, Manuel J Cardoso, Martina Bocchetta, David M Cash, Sebastian Ourselin, Alessandro Padovani, Jonathan D Rohrer, Barbara Borroni
Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is wide variability in phenotype even within affected families, raising questions about the determinants of the progression of disease and age at onset. It has been recently demonstrated that cognitive reserve, as measured by years of formal schooling, can counteract the ongoing pathological process. The TMEM106B genotype has also been found to be a modifier of the age at disease onset in frontotemporal dementia patients with TDP-43 pathology...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28453474/neuropsychological-profile-in-the-c9orf72-associated-behavioral-variant-frontotemporal-dementia
#15
Noora-Maria Suhonen, Ramona M Haanpää, Ville Korhonen, Jari Jokelainen, Anni Pitkäniemi, Anna-Leena Heikkinen, Johanna Krüger, Päivi Hartikainen, Seppo Helisalmi, Mikko Hiltunen, Tuomo Hänninen, Anne M Remes
While the C9ORF72 expansion is a major cause of behavioral variant frontotemporal dementia (bvFTD), little is known of the resultant cognitive profile. Our aim was to characterize the neuropsychological profile of the C9ORF72 associated bvFTD. We contrasted structured neuropsychological assessments of the C9ORF72 expansion carrier bvFTD patients (n = 26) with non-carrier bvFTD patients (n = 47) and those with Alzheimer's disease (AD) (n = 47). As compared to the non-carrier bvFTD patients, the C9ORF72 expansion carriers performed at a higher level in an immediate verbal memory test while showing poorer phonemic verbal fluency...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28452351/motor-neuron-disease-detection-of-glycine-proline-repeat-protein-offers-new-biomarker-in-patients-with-c9orf72-expansion
#16
Charlotte Ridler
No abstract text is available yet for this article.
April 28, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28449882/als-and-frontotemporal-dementia-belong-to-a-common-disease-spectrum
#17
REVIEW
P Couratier, P Corcia, G Lautrette, M Nicol, B Marin
ALS is now understood to be a complex multisystem neurodegenerative disease because areas other than the motor cortices of the brain undergo degeneration. Frontotemporal dementia (FTD) may be associated with motor neuron disease, and the transactive response DNA-binding protein 43 (TDP-43) is a major pathological substrate underlying both diseases. The recent discovery of a gene that can cause both FTD, ALS and FTD-ALS, C9ORF72, has modified the way for considering these two pathologies. These findings would allow the development of potential biomarkers and therapeutic targets for these devastating diseases...
April 24, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28444446/comparison-of-the-clinical-and-cognitive-features-of-genetically-positive-als-patients-from-the-largest-tertiary-center-in-serbia
#18
Ivan V Marjanović, Biljana Selak-Djokić, Stojan Perić, Milena Janković, Vladimir Arsenijević, Ivana Basta, Dragana Lavrnić, Elka Stefanova, Zorica Stević
Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs)...
April 25, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28442996/structural-characteristics-of-simple-rna-repeats-associated-with-disease-and-their-deleterious-protein-interactions
#19
REVIEW
Adam Ciesiolka, Magdalena Jazurek, Karolina Drazkowska, Wlodzimierz J Krzyzosiak
Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28439722/dna-methylation-age-acceleration-is-associated-with-disease-duration-and-age-at-onset-in-c9orf72-patients
#20
Ming Zhang, Maria Carmela Tartaglia, Danielle Moreno, Christine Sato, Paul McKeever, Anna Weichert, Julia Keith, Janice Robertson, Lorne Zinman, Ekaterina Rogaeva
The repeat expansion in C9orf72 is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. C9orf72 patients present with a wide range in disease duration and age of onset. The strongest risk factor for both syndromes is aging, which was linked to DNA methylation (DNAm) age based on the cumulative assessment of the methylation levels of 353 CpGs included on the genome-wide 450k BeadChip. DNAm age may reflect biological age better than chronological age. We conducted a genome-wide blood DNA methylation study of 46 unrelated C9orf72 patients...
April 24, 2017: Acta Neuropathologica
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