A high-fidelity CRISPR-Cas13 system improves abnormalities associated with C9ORF72-linked ALS/FTD by Tristan X. McCallister, Colin K. W. Lim, Mayuri Singh, Sijia Zhang, Najah S. Ahsan, William M. Terpstra, Alisha Y. Xiong, M. Alejandra Zeballos C, Jackson E. Powell, Jenny Drnevich, Yifei Kang, Thomas Gaj

“…Abstract An abnormal expansion of a GGGGCC (G4C2) hexanucleotide repeat in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two debilitating neurodegenerative disorders driven in part by gain-of-function mechanisms involving transcribed forms of the repeat expansion. …”
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NLS-binding deficient Kapβ2 reduces neurotoxicity via selective interaction with C9orf72-ALS/FTD dipeptide repeats by Kevin M. Kim, Amandeep Girdhar, Maria E. Cicardi, Vaishnavi Kankate, Miyuki Hayashi, Ruoyu Yang, Jenny L. Carey, Charlotte M. Fare, James Shorter, Gino Cingolani, Davide Trotti, Lin Guo

“…Abstract Arginine-rich dipeptide repeat proteins (R-DPRs) are highly toxic proteins found in patients with C9orf72-linked amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD). R-DPRs can cause toxicity by disrupting the natural phase behavior of RNA-binding proteins (RBPs). …”
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RIPK1 expression and inhibition in tauopathies: implications for neuroinflammation and neuroprotection by Ignacio Silva-Llanes, Ignacio Silva-Llanes, Ignacio Silva-Llanes, Enrique Madruga, Enrique Madruga, Ana Martínez, Ana Martínez, Isabel Lastres-Becker, Isabel Lastres-Becker, Isabel Lastres-Becker, Isabel Lastres-Becker

“…We examined mouse models of frontotemporal dementia (FTD), as well as brain tissue samples from patients with progressive supranuclear palsy (PSP), a primary form of 4R tauopathy, and Alzheimer’s disease (AD), which is considered a secondary tauopathy. …”
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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes by M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez

“…Results: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. …”
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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes by M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez

“…Results: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. …”
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Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo by Liam Kempthorne, Deniz Vaizoglu, Alexander J. Cammack, Mireia Carcolé, Martha J. Roberts, Alla Mikheenko, Alessia Fisher, Pacharaporn Suklai, Bhavana Muralidharan, François Kroll, Thomas G. Moens, Lidia Yshii, Stijn Verschoren, Benedikt V. Hölbling, Francisco C. Moreira, Eszter Katona, Rachel Coneys, Paula de Oliveira, Yong-Jie Zhang, Karen Jansen, Lillian M. Daughrity, Alexander McGown, Tennore M. Ramesh, Ludo Van Den Bosch, Gabriele Lignani, Ahad A. Rahim, Alyssa N. Coyne, Leonard Petrucelli, Jason Rihel, Adrian M. Isaacs

“…Abstract The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic G4C2 repeat expansion in C9orf72. …”
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Addressing inter individual variability in CSF levels of brain derived proteins across neurodegenerative diseases by Sára Mravinacová, Sofia Bergström, Jennie Olofsson, Nerea Gómez de San José, Sarah Anderl-Straub, Janine Diehl-Schmid, Klaus Fassbender, Klaus Fliessbach, Holger Jahn, Johannes Kornhuber, G. Bernhard Landwehrmeyer, Martin Lauer, Johannes Levin, Albert C. Ludolph, Johannes Prudlo, Anja Schneider, Matthias L. Schroeter, Jens Wiltfang, Petra Steinacker, FTLD Consortium, Markus Otto, Peter Nilsson, Anna Månberg

“…Here, we measured the levels of 69 pre-selected proteins in cerebrospinal fluid using antibody-based suspension bead array technology in a multi-disease cohort of 499 individuals with neurodegenerative disorders including Alzheimer’s disease (AD), behavioral variant frontotemporal dementia, primary progressive aphasias, amyotrophic lateral sclerosis (ALS), corticobasal syndrome, primary supranuclear palsy, along with healthy controls. …”
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Investigating neuropathological correlates of hyperactive and psychotic symptoms in dementia: a systematic review by Giulia Negro, Giulia Negro, Michele Rossi, Camillo Imbimbo, Alberto Gatti, Andrea Magi, Andrea Magi, Ildebrando Marco Appollonio, Ildebrando Marco Appollonio, Alfredo Costa, Alfredo Costa, Tino Emanuele Poloni, Tino Emanuele Poloni

“…Of the 18,823 cases analyzed, the most common diagnoses were Alzheimer's Disease (83.44%), Dementia with Lewy Bodies (5.37%), and Frontotemporal Dementia (13.40%). HIDA-P symptoms were distributed across all clinical diagnoses, with agitation (14.00%), delusions (11.60%), disinhibition (7.61%), and hallucinations (6.83%) being the most frequently reported behaviors. …”
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