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Frontotemporal degeneration

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https://www.readbyqxmd.com/read/29149899/selective-depletion-of-microglial-progranulin-in-mice-is-not-sufficient-to-cause-neuronal-ceroid-lipofuscinosis-or-neuroinflammation
#1
Terri L Petkau, Natalia Kosior, Kathleen de Asis, Colúm Connolly, Blair R Leavitt
BACKGROUND: Progranulin deficiency due to heterozygous null mutations in the GRN gene are a common cause of familial frontotemporal lobar degeneration (FTLD), while homozygous loss-of-function GRN mutations are thought to be a rare cause of neuronal ceroid lipofuscinosis (NCL). Aged progranulin-knockout (Grn-null) mice display highly exaggerated lipofuscinosis, microgliosis, and astrogliosis, as well as mild cell loss in specific brain regions. In the brain, progranulin is predominantly expressed in neurons and microglia, and previously, we demonstrated that neuronal-specific depletion of progranulin does not recapitulate the neuropathological phenotype of Grn-null mice...
November 17, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29143870/head-to-head-comparison-of-18-f-av-1451-and-18-f-thk5351-for-tau-imaging-in-alzheimer-s-disease-and-frontotemporal-dementia
#2
Young Kyoung Jang, Chul Hyoung Lyoo, Seongbeom Park, Seung Jun Oh, Hanna Cho, Minyoung Oh, Young Hoon Ryu, Jae Yong Choi, Gil D Rabinovici, Hee Jin Kim, Seung Hwan Moon, Hyemin Jang, Jin San Lee, William J Jagust, Duk L Na, Jae Seung Kim, Sang Won Seo
PURPOSE: Tau accumulation is a core pathologic change in various neurodegenerative diseases including Alzheimer's disease and frontotemporal lobar degeneration-tau. Recently, tau positron emission tomography tracers such as [(18)F] AV-1451 and [(18)F] THK5351 have been developed to detect tau deposition in vivo. In the present study, we performed a head to head comparison of these two tracers in Alzheimer's disease and frontotemporal dementia cases and aimed to investigate which tracers are better suited to image tau in these disorders...
November 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29142138/chitotriosidase-chit1-is-increased-in-microglia-and-macrophages-in-spinal-cord-of-amyotrophic-lateral-sclerosis-and-cerebrospinal-fluid-levels-correlate-with-disease-severity-and-progression
#3
Petra Steinacker, Federico Verde, Lubin Fang, Emily Feneberg, Patrick Oeckl, Sigrun Roeber, Sarah Anderl-Straub, Adrian Danek, Janine Diehl-Schmid, Klaus Fassbender, Klaus Fliessbach, Hans Foerstl, Armin Giese, Holger Jahn, Jan Kassubek, Johannes Kornhuber, G Bernhard Landwehrmeyer, Martin Lauer, Elmar Hans Pinkhardt, Johannes Prudlo, Angela Rosenbohm, Anja Schneider, Matthias L Schroeter, Hayrettin Tumani, Christine A F von Arnim, Jochen Weishaupt, Patrick Weydt, Albert C Ludolph, Deniz Yilmazer Hanke, Markus Otto
OBJECTIVES: Neurochemical markers of amyotrophic lateral sclerosis (ALS) that reflect underlying disease mechanisms might help in diagnosis, staging and prediction of outcome. We aimed at determining the origin and differential diagnostic and prognostic potential of the putative marker of microglial activation chitotriosidase (CHIT1). METHODS: Altogether 316 patients were included, comprising patients with sporadic ALS, ALS mimics (disease controls (DCo)), frontotemporal lobar degeneration (FTLD), Creutzfeldt-Jakob disease (CJD), Alzheimer's disease (AD), Parkinson's disease (PD) and healthy controls (Con)...
November 15, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29131982/multimodal-mri-quantification-of-the-common-neurostructural-bases-within-the-ftd-als-continuum
#4
Chiara Crespi, Alessandra Dodich, Stefano F Cappa, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Chiara Cerami
The continuum hypothesis linking the behavioral variant of frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis (ALS) is supported by clinical, pathological, genetic, and neuroimaging evidence. In the present multimodal magnetic resonance study, we characterized the site and extent of shared neurostructural changes in gray and white matter in 20 bvFTD and 19 ALS patients without dementia. We found an overlap of macrostructural and microstructural damage in both patient groups compared with healthy controls, involving the right orbital and the bilateral anterior cingulate cortices, the corticospinal tract and corpus callosum...
September 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29124108/an-8-week-open-label-dose-finding-study-of-nimodipine-for-the-treatment-of-progranulin-insufficiency-from-grn-gene-mutations
#5
Sharon J Sha, Zachary A Miller, Sang-Won Min, Yungui Zhou, Jesse Brown, Laura L Mitic, Anna Karydas, Mary Koestler, Richard Tsai, Chiara Corbetta-Rastelli, Sophie Lin, Emma Hare, Scott Fields, Kirsten E Fleischmann, Ryan Powers, Ryan Fitch, Lauren Herl Martens, Mehrdad Shamloo, Anne M Fagan, Robert V Farese, Rodney Pearlman, William Seeley, Bruce L Miller, Li Gan, Adam L Boxer
Introduction: Frontotemporal lobar degeneration-causing mutations in the progranulin (GRN) gene reduce progranulin protein (PGRN) levels, suggesting that restoring PGRN in mutation carriers may be therapeutic. Nimodipine, a Food and Drug Administration-approved blood-brain barrier-penetrant calcium channel blocker, increased PGRN levels in PGRN-deficient murine models. We sought to assess safety and tolerability of oral nimodipine in human GRN mutation carriers. Methods: We performed an open-label, 8-week, dose-finding, phase 1 clinical trial in eight GRN mutation carriers to assess the safety and tolerability of nimodipine and assayed fluid and radiologic markers to investigate therapeutic endpoints...
November 2017: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://www.readbyqxmd.com/read/29121998/circulating-brain-enriched-micrornas-as-novel-biomarkers-for-detection-and-differentiation-of-neurodegenerative-diseases
#6
Kira S Sheinerman, Jon B Toledo, Vladimir G Tsivinsky, David Irwin, Murray Grossman, Daniel Weintraub, Howard I Hurtig, Alice Chen-Plotkin, David A Wolk, Leo F McCluskey, Lauren B Elman, John Q Trojanowski, Samuil R Umansky
BACKGROUND: Minimally invasive specific biomarkers of neurodegenerative diseases (NDs) would facilitate patient selection and disease progression monitoring. We describe the assessment of circulating brain-enriched microRNAs as potential biomarkers for Alzheimer's disease (AD), frontotemporal dementia (FTD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS). METHODS: In this case-control study, the plasma samples were collected from 250 research participants with a clinical diagnosis of AD, FTD, PD, and ALS, as well as from age- and sex-matched control subjects (n = 50 for each group), recruited from 2003 to 2015 at the University of Pennsylvania Health System, including the Alzheimer's Disease Center, the Parkinson's Disease and Movement Disorders Center, the Frontotemporal Degeneration Center, and the Amyotrophic Lateral Sclerosis Clinic...
November 9, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29117955/alzheimer-s-disease-related-dementias-summit-2016-national-research-priorities
#7
REVIEW
Roderick A Corriveau, Walter J Koroshetz, Jordan T Gladman, Sophia Jeon, Debra Babcock, David A Bennett, S Thomas Carmichael, Susan L-J Dickinson, Dennis W Dickson, Marian Emr, Howard Fillit, Steven M Greenberg, Michael L Hutton, David S Knopman, Jennifer J Manly, Karen S Marder, Claudia S Moy, Creighton H Phelps, Paul A Scott, William W Seeley, Beth-Anne Sieber, Nina B Silverberg, Margaret L Sutherland, Angela Taylor, Christine L Torborg, Salina P Waddy, Amelie K Gubitz, David M Holtzman
Goal 1 of the National Plan to Address Alzheimer's Disease is to prevent and effectively treat Alzheimer disease and Alzheimer disease-related dementias by 2025. To help inform the research agenda toward achieving this goal, the NIH hosts periodic summits that set and refine relevant research priorities for the subsequent 5 to 10 years. This proceedings article summarizes the 2016 Alzheimer's Disease-Related Dementias Summit, including discussion of scientific progress, challenges, and opportunities in major areas of dementia research, including mixed-etiology dementias, Lewy body dementia, frontotemporal degeneration, vascular contributions to cognitive impairment and dementia, dementia disparities, and dementia nomenclature...
November 8, 2017: Neurology
https://www.readbyqxmd.com/read/29113975/g-quadruplex-binding-small-molecules-ameliorate-c9orf72-ftd-als-pathology-in%C3%A2-vitro-and-in%C3%A2-vivo
#8
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert-Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie-Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively. Repeat expansions have been proposed to cause disease by both the repeat RNA forming foci that sequester RNA-binding proteins and through toxic dipeptide repeat proteins generated by repeat-associated non-ATG translation. GGGGCC repeat RNA folds into a G-quadruplex secondary structure, and we investigated whether targeting this structure is a potential therapeutic strategy...
November 7, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29113604/tau-accumulation-in-two-patients-with-frontotemporal-lobe-degeneration-showing-different-types-of-aphasia-using-18f-thk-5351-positron-emission-tomography-a-case-report
#9
Masahiko Takaya, Kazunari Ishii, Chisa Hosokawa, Kazumasa Saigoh, Osamu Shirakawa
Tau deposits in Alzheimer's disease and corticobasal syndrome have been reported using 18F-THK-5351 positron emission tomography (PET). To our knowledge, our study is the first to demonstrate tau deposits in patients with frontotemporal lobe degeneration (FTLD), using 18F-THK-5351 PET. This case report presents two patients, both of whom showed positive Tau deposition using 18F-THK-5351 PET. One patient was diagnosed with semantic variant primary progressive aphasia (PPA) and the other diagnosed with logopenic variant PPA...
November 8, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/29110334/frontotemporal-dementia-with-trans-activation-response-dna-binding-protein-43-presenting-with-catatonic-syndrome
#10
Ryohei Watanabe, Ito Kawakami, Mitsumoto Onaya, Shinji Higashi, Nobutaka Arai, Haruhiko Akiyama, Masato Hasegawa, Tetsuaki Arai
Catatonia is a clinical syndrome characterized by symptoms such as immobility, mutism, stupor, stereotypy, echophenomena, catalepsy, automatic obedience, posturing, negativism, gegenhalten and ambitendency. This syndrome occurs mostly in mood disorder and schizophrenic patients, and is related to neuronal dysfunction involving the frontal lobe. Some cases of frontotemporal dementia (FTD) with catatonia have been reported, but these cases were not examined by autopsy. Here, we report on a FTD case which showed catatonia after the first episode of brief psychotic disorder...
November 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29107846/relevance-of-raised-cerebrospinal-fluid-monocyte-levels-in-patients-with-frontotemporal-dementia
#11
Matthias Pawlowski, Gero Lueg, Catharina C Gross, Andreas Johnen, Julia Krämer, Matthias Weckesser, Heinz Wiendl, Sven G Meuth, Thomas Duning
Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder. The contribution of the immune system to its pathogenesis remains incompletely understood. In this study, we performed comprehensive immune cell profiling in the cerebrospinal fluid (CSF) and peripheral blood of patients with FTD. Thirty-two patients with behavioral variant frontotemporal dementia and 25 patients with primary progressive aphasia were included and compared to 14 healthy elderly controls. All patients underwent neuropsychological examination, magnetic resonance imaging, voxel-based diffusion tensor imaging, and peripheral blood and CSF immune cell profiling by multiparameter flow cytometry...
October 13, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29105852/frontotemporal-lobar-degeneration-due-to-p301l-tau-mutation-showing-apathy-and-severe-frontal-atrophy-but-lacking-other-behavioral-changes-a-case-report-and-literature-review
#12
Tomoko Miki, Osamu Yokota, Shintaro Takenoshita, Yoko Mori, Kiyohiro Yamazaki, Yuki Ozaki, Shu-Ichi Ueno, Takashi Haraguchi, Hideki Ishizu, Shigetoshi Kuroda, Seishi Terada, Norihito Yamada
The clinical features in cases that have mutations in the microtubule-associated protein tau gene but lack prominent behavioral changes remain unclear. Here, we describe detailed clinical and pathological features of a case carrying the P301L tau mutation that showed only apathy until the middle stage of the course. The mother of this case was suspected to have mild cognitive decline at age 46. However, before she was fully examined, she had a subarachnoid hemorrhage at age 49 and died at age 53. An autopsy was not done...
November 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29103031/transcranial-sonography-in%C3%A2-neurodegenerative-diseases-with-cognitive-decline
#13
Silvia Favaretto, Uwe Walter, Claudio Baracchini, Annachiara Cagnin
Transcranial sonography (TCS) of the brain parenchyma detects alterations in the substantia nigra (SN), raphe nuclei, and basal ganglia; this technique has been established as a tool for the early diagnosis of Parkinson's disease and differential diagnosis from atypical parkinsonian syndromes. Here, we aimed to review the main applications of TCS in neurodegenerative diseases presenting with dementia syndrome, focusing on Alzheimer's disease (AD), dementia with Lewy bodies (DLB), frontotemporal lobar degeneration, idiopathic normal pressure hydrocephalus, and atypical and secondary parkinsonisms...
November 1, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29097807/tdp-43-accelerates-age-dependent-degeneration-of-interneurons
#14
Hitomi Tsuiji, Ikuyo Inoue, Mari Takeuchi, Asako Furuya, Yuko Yamakage, Seiji Watanabe, Masato Koike, Mitsuharu Hattori, Koji Yamanaka
TDP-43 is an RNA-binding protein important for many aspects of RNA metabolism. Abnormal accumulation of TDP-43 in the cytoplasm of affected neurons is a pathological hallmark of the neurodegenerative diseases frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Several transgenic mouse models have been generated that recapitulate defects in TDP-43 accumulation, thus causing neurodegeneration and behavioural impairments. While aging is the key risk factor for neurodegenerative diseases, the specific effect of aging on phenotypes in TDP-43 transgenic mice has not been investigated...
November 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29091718/analysis-of-neurodegenerative-mendelian-genes-in-clinically-diagnosed-alzheimer-disease
#15
Maria Victoria Fernández, Jong Hun Kim, John P Budde, Kathleen Black, Alexandra Medvedeva, Ben Saef, Yuetiva Deming, Jorge Del-Aguila, Laura Ibañez, Umber Dube, Oscar Harari, Joanne Norton, Rachel Chasse, John C Morris, Alison Goate, Carlos Cruchaga
Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological and molecular overlap. Previous studies indicate that causative mutations in AD and FTD/ALS genes can be found in clinical familial AD. We examined the presence of causative and low frequency coding variants in the AD, FTD, ALS and PD Mendelian genes, in over 450 families with clinical history of AD and over 11,710 sporadic cases and cognitive normal participants from North America...
November 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29081764/tau-protein-in-oral-mucosa-and-cognitive-state-a-cross-sectional-study
#16
Luis Fernando Arredondo, Saray Aranda-Romo, Ildefonso Rodríguez-Leyva, Erika Chi-Ahumada, Sami K Saikaly, Diana P Portales-Pérez, Roberto González-Amaro, Mariana Salgado-Bustamante, Lourdes Enriquez-Macias, William Eng, Robert A Norman, Maria E Jimenez-Capdeville
Neurodegenerative diseases are characterized by the presence of abnormal aggregates of proteins in brain tissue. Among them, the presence of aggregates of phosphorylated Tau protein (p-Tau) is the hallmark of Alzheimer's disease (AD) and other major neurodegenerative disorders such as corticobasal degeneration and frontotemporal dementia among others. Although Tau protein has previously been assumed to be exclusive to the central nervous system, it is also found in peripheral tissues. The purpose of this study was to determine whether there is a differential Tau expression in oral mucosa cells according to cognitive impairment...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29079747/disulfide-cross-linked-multimers-of-tdp-43-and-spinal-motoneuron%C3%A2-loss-in-a-tdp-43-a315t-als-ftd-mouse-model
#17
Leslie Bargsted, Danilo B Medinas, Francisca Martínez Traub, Pablo Rozas, Natalia Muñoz, Melissa Nassif, Carolina Jerez, Alejandra Catenaccio, Felipe A Court, Claudio Hetz, Soledad Matus
Tar DNA binding protein 43 (TDP-43) is the principal component of ubiquitinated protein inclusions present in nervous tissue of most cases of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Previous studies described a TDP-43(A315T) transgenic mouse model that develops progressive motor dysfunction in the absence of protein aggregation or significant motoneuron loss, questioning its validity to study ALS. Here we have further characterized the course of the disease in TDP-43(A315T) mice using a battery of tests and biochemical approaches...
October 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29078806/distinct-tdp-43-inclusion-morphologies-in-frontotemporal-lobar-degeneration-with-and-without-amyotrophic-lateral-sclerosis
#18
Rachel H Tan, Yue Yang, Woojin S Kim, Carol Dobson-Stone, John B Kwok, Matthew C Kiernan, Glenda M Halliday
The identification of the TAR DNA-binding protein 43 (TDP-43) as the ubiquitinated cytoplasmic inclusions in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) confirmed that these two diseases share similar mechanisms, likely to be linked to the abnormal hyperphosphorylation, ubiquitination and cleavage of pathological TDP-43. Importantly however, a quantitative analysis of TDP-43 inclusions in predilection cortical regions of FTLD, FTLD-ALS and ALS cases has not been undertaken...
October 27, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29076800/neurodegeneration-of-brain-networks-in-the-amyotrophic-lateral-sclerosis-frontotemporal-lobar-degeneration-als-ftld-continuum-evidence-from-mri-and-meg-studies
#19
Francesca Trojsi, Pierpaolo Sorrentino, Giuseppe Sorrentino, Gioacchino Tedeschi
Brain imaging techniques, especially those based on magnetic resonance imaging (MRI) and magnetoencephalography (MEG), have been increasingly applied to study multiple large-scale distributed brain networks in healthy people and neurological patients. With regard to neurodegenerative disorders, amyotrophic lateral sclerosis (ALS), clinically characterized by the predominant loss of motor neurons and progressive weakness of voluntary muscles, and frontotemporal lobar degeneration (FTLD), the second most common early-onset dementia, have been proven to share several clinical, neuropathological, genetic, and neuroimaging features...
October 27, 2017: CNS Spectrums
https://www.readbyqxmd.com/read/29067320/multiple-comorbid-neuropathologies-in-the-setting-of-alzheimer-s-disease-neuropathology-and-implications-for-drug-development
#20
REVIEW
Gil D Rabinovici, Maria C Carrillo, Mark Forman, Susan DeSanti, David S Miller, Nicholas Kozauer, Ronald C Petersen, Christopher Randolph, David S Knopman, Eric E Smith, Maria Isaac, Niklas Mattsson, Lisa J Bain, James A Hendrix, John R Sims
Dementia is often characterized as being caused by one of several major diseases, such as Alzheimer's disease (AD), cerebrovascular disease, Lewy body disease, or a frontotemporal degeneration. Failure to acknowledge that more than one entity may be present precludes attempts to understand interactive relationships. The clinicopathological studies of dementia demonstrate that multiple pathologic processes often coexist. How overlapping pathologic findings affect the diagnosis and treatment of clinical AD and other dementia phenotypes was the topic taken up by the Alzheimer's Association's Research Roundtable in October 2014...
January 2017: Alzheimer's & Dementia: Translational Research & Clinical Interventions
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