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https://www.readbyqxmd.com/read/29773329/mutation-screening-of-the-tia1-gene-in-chinese-patients-with-amyotrophic-lateral-sclerosis-frontotemporal-dementia
#1
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/29769783/trichotillomania-ranging-from-ritual-to-illness-and-as-a-rare-clinical-manifestation-of-frontotemporal-dementia-review-of-literature-and-case-report
#2
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/29765078/tdp-43-regulation-of-stress-granule-dynamics-in-neurodegenerative-disease-relevant-cell-types
#3
Yousra Khalfallah, Rachel Kuta, Camille Grasmuck, Alexandre Prat, Heather D Durham, Christine Vande Velde
Stress granules (SGs) are cytoplasmic foci that form in response to various external stimuli and are essential to cell survival following stress. SGs are studied in several diseases, including ALS and FTD, which involve the degeneration of motor and cortical neurons, respectively, and are now realized to be linked pathogenically by TDP-43, originally discovered as a component of ubiquitin-positive aggregates within patients' neurons and some glial cells. So far, studies to undercover the role of TDP-43 in SGs have used primarily transformed cell lines, and thus rely on the extrapolation of the mechanisms to cell types affected in ALS/FTD, potentially masking cell specific effects...
May 15, 2018: Scientific Reports
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
#4
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/29760282/the-c-elegans-ortholog-of-tdp-43-regulates-the-chromatin-localization-of-the-heterochromatin-protein-1-homolog-hpl-2
#5
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/29755516/synaptic-paths-to-neurodegeneration-the-emerging-role-of-tdp-43-and-fus-in-synaptic-functions
#6
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
#7
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
#8
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/29754758/novel-valosin-containing-protein-mutations-associated-with-multisystem-proteinopathy
#9
Sejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, Anita Lakatos, Lan Weiss, Marjorie Grafe, Johanna Palmio, Matt Wicklund, Yadollah Harati, Molly Omizo, Bjarne Udd, Virginia Kimonis
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four new patients/families carrying novel VCP mutations: c.474 G > A (p.M158I); c.478 G > C (p...
April 17, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29749507/identification-of-chchd2-mutations-in-patients-with-alzheimer-s-disease-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-in-china
#10
Xixi Liu, Bin Jiao, Weiwei Zhang, Tingting Xiao, Lihua Hou, Chuzheng Pan, Beisha Tang, Lu Shen
Recently, the coiled‑coil‑helix‑coiled‑coil‑helix domain 2 (CHCHD2) gene was identified as a possible causative gene for Parkinson's disease (PD). Three other neurodegenerative diseases, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), share significant overlaps with PD in clinical phenotypes, pathological features and genetic heredities, and it is still unclear whether CHCHD2 variants could explain these three diseases. The present study screened all exons of the CHCHD2 gene in a total of 780 patients (511 AD, 181 ALS and 88 FTD) and 500 healthy controls from the Chinese Han population...
May 3, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29748150/targeted-exome-sequencing-reveals-homozygous-trem2-r47c-mutation-presenting-with-behavioral-variant-frontotemporal-dementia-without-bone-involvement
#11
Adeline Sl Ng, Yi Jayne Tan, Zhao Yi, Moses Tandiono, Elaine Chew, Jacqueline Dominguez, Mabel Macas, Ebonne Ng, Shahul Hameed, Simon Ting, Eng King Tan, Jia Nee Foo, Nagaendran Kandiah
To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. We detected a homozygous TREM2 R47C mutation in a patient with behavioral variant FTD without bone cysts or bone-associated phenotype. Two novel nonsense GRN mutations in 3 FTD patients from the Philippines were detected, but no known pathogenic mutations in other FTD-associated genes were found...
April 16, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29746400/mri-of-non-alzheimer-s-dementia-current-and-emerging-knowledge
#12
Massimo Filippi, Federica Agosta
PURPOSE OF REVIEW: The correct classification of non-Alzheimer's dementia is crucial to study disease mechanisms, predict disease progression and test disease-specific treatments. Brain atrophy assessment with morphometric MRI is currently the gold standard for in-vivo localization of neurodegeneration. Structural and functional connectivity biomarkers are becoming increasingly available. This review emphasizes the potential applications of MRI in the main non-Alzheimer's dementia such as dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD)...
May 8, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29742972/validity-and-clinical-utility-of-different-clock-drawing-test-scoring-systems-in-multiple-forms-of-dementia
#13
Diana Duro, Miguel Tábuas-Pereira, Sandra Freitas, Beatriz Santiago, Maria Amália Botelho, Isabel Santana
The Clock Drawing Test (CDT) has a known potential for the detection of cognitive impairment in populations with dementia, especially Alzheimer disease (AD). Our aim was to compare the clinical utility of 3 CDT scoring systems (Rouleau, Cahn, and Babins) in several pathologies with cognitive compromise from a tertiary center memory clinic. We selected patients with a clinical diagnosis of mild stage AD, behavioral variant frontotemporal dementia (FTD), vascular dementia (VaD), dementia with Lewy bodies (DLB), and Parkinson disease with dementia (PDD)...
January 1, 2018: Journal of Geriatric Psychiatry and Neurology
https://www.readbyqxmd.com/read/29742909/olfactory-testing-in-frontotemporal-dementia-a-literature-review
#14
Alessandro Tonacci, Lucia Billeci
Frontotemporal dementia (FTD) is a heterogeneous disorder featuring language impairment, personality changes, and executive defects, often due to the frontotemporal lobar degeneration (FTLD). Both FTD and FTLD are often associated with olfactory impairment, early biomarker for neurodegeneration, which can be evaluated with different techniques, among which low-cost olfactory tests are widely used. Therefore, we conducted a review of the literature focusing on papers published between January 1, 2007, and June 12, 2017, investigating the usefulness of olfactory testing in FTD/FTLD...
January 1, 2018: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/29738460/patient-derived-ipscs-and-ins-shedding-new-light-on-the-cellular-etiology-of-neurodegenerative-diseases
#15
Bor Luen Tang
Induced pluripotent stem cells (iPSCs) and induced neuronal (iN) cells are very much touted in terms of their potential promises in therapeutics. However, from a more fundamental perspective, iPSCs and iNs are invaluable tools for the postnatal generation of specific diseased cell types from patients, which may offer insights into disease etiology that are otherwise unobtainable with available animal or human proxies. There are two good recent examples of such important insights with diseased neurons derived via either the iPSC or iN approaches...
May 8, 2018: Cells
https://www.readbyqxmd.com/read/29731706/phosphorylation-of-threonine-175-tau-in-the-induction-of-tau-pathology-in-amyotrophic-lateral-sclerosis-frontotemporal-spectrum-disorder-als-ftsd-a-review
#16
REVIEW
Alexander J Moszczynski, Matthew A Hintermayer, Michael J Strong
Approximately 50-60% of all patients with amyotrophic lateral sclerosis (ALS) will develop a deficit of frontotemporal function, ranging from frontotemporal dementia (FTD) to one or more deficits of neuropsychological, speech or language function which are collectively known as the frontotemporal spectrum disorders of ALS (ALS-FTSD). While the neuropathology underlying these disorders is most consistent with a widespread alteration in the metabolism of transactive response DNA-binding protein 43 (TDP-43), in both ALS with cognitive impairment (ALSci) and ALS with FTD (ALS-FTD; also known as MND-FTD) there is evidence for alterations in the metabolism of the microtubule associated protein tau...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29731301/a-c9orf72-als-ftd-ortholog-acts-in-endolysosomal-degradation-and-lysosomal-homeostasis
#17
Anna Corrionero, H Robert Horvitz
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the expansion of a hexanucleotide repeat in a non-coding region of the gene C9orf72. We report that loss-of-function mutations in alfa-1, the Caenorhabditis elegans ortholog of C9orf72, cause a novel phenotypic defect: endocytosed yolk is abnormally released into the extra-embryonic space, resulting in refractile "blobs." The alfa-1 blob phenotype is partially rescued by the expression of the human C9orf72 protein, demonstrating that C9orf72 and alfa-1 function similarly...
April 24, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29729808/insights-into-c9orf72-related-als-ftd-from-drosophila-and-ipsc-models
#18
REVIEW
Yeliz Yuva-Aydemir, Sandra Almeida, Fen-Biao Gao
GGGGCC (G4 C2 ) repeat expansion in C9ORF72 is the most common genetic cause of ALS and FTD. An important issue is how repeat RNAs and their translation products, various dipeptide repeat (DPR) proteins, cause neurodegeneration. Drosophila has been widely used to model G4 C2 repeat RNA and DPR protein toxicity. Overexpression of disease molecules in flies has revealed important molecular insights. These have been validated and further explored in human neurons differentiated from induced pluripotent stem cells (iPSCs), a disease-relevant model in which expanded G4 C2 repeats are expressed in their native molecular context...
May 2, 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29729314/the-human-mapt-locus-generates-circular-rnas
#19
Justin R Welden, Jacob van Doorn, Peter T Nelson, Stefan Stamm
The microtubule-associated protein Tau, generated by the MAPT gene is involved in dozens of neurodegenerative conditions ("tauopathies"), including Alzheimer's disease (AD) and frontotemporal lobar degeneration/frontotemporal dementia (FTLD/FTD). The pre-mRNA of MAPT is well studied and its aberrant pre-mRNA splicing is associated with frontotemporal dementia. Using a PCR screen of RNA from human brain tissues, we found that the MAPT locus generates circular RNAs through a backsplicing mechanism from exon 12 to either exon 10 or 7...
May 2, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29728749/the-role-of-18f-fp-cit-pet-in-differentiation-of-progressive-supranuclear-palsy-and-frontotemporal-dementia-in-the-early-stage
#20
Han Soo Yoo, Seok Jong Chung, Soo-Jong Kim, Jung Su Oh, Jae Seung Kim, Byoung Seok Ye, Young Ho Sohn, Phil Hyu Lee
PURPOSE: The purpose of this study was to evaluate whether the pattern of striatal dopamine transporter (DAT) availability could differentiate between progressive supranuclear palsy (PSP) and frontotemporal dementia (FTD) in the first few years of the disease. METHODS: We enrolled patients who had Parkinsonism and frontal dysfunction and/or language deficit, visited the clinic within 2 years of the onset of symptoms, and had been followed-up for longer than 5 years; thus resulting in 26 patients with PSP and 24 patients with FTD...
May 4, 2018: European Journal of Nuclear Medicine and Molecular Imaging
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