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JOURNAL ARTICLE
Emma M Devenney, Nga Yan Tse, Claire O'Callaghan, Fiona Kumfor, Rebekah M Ahmed, Jashelle Caga, Jessica L Hazelton, James Carrick, Glenda M Halliday, Olivier Piguet, Matthew C Kiernan, John R Hodges
The rate and prevalence of hallucinations in behavioural variant frontotemporal dementia is well established. The mechanisms for underlying vulnerability however are the least well described in FTD compared with other neuropsychiatric conditions, despite the presence of these features significantly complicating the diagnostic process. As such, this present study aimed to provide a detailed characterization of the neural, cognitive and behavioural profile associated with a predisposition to hallucinatory experiences in behavioural variant frontotemporal dementia...
2024: Brain communications
#2
JOURNAL ARTICLE
Jessica Sultana, Audrey M G Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Marta Vidal, Cyril Jones Jagaraj, Kunjie Ding, Sharlynn Wu, Sina Shadfar, Emily K Don, Anand Deva, Garth Nicholson, Dominic B Rowe, Ian Blair, Shu Yang, Julie D Atkin
Hexanucleotide repeat expansions (HREs) in the chromosome 9 open reading frame 72 (C9orf72) gene are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both are debilitating neurodegenerative conditions affecting either motor neurons (ALS) in the brain and spinal cord or neurons in the frontal and/or temporal cortical lobes (FTD). HREs undergo repeat-associated non-ATG (RAN) translation on both sense and anti-sense strands, generating five distinct dipeptide repeat proteins (DPRs), poly-GA, -GR, -GP, -PA and -PR...
May 9, 2024: Molecular Neurobiology
#3
JOURNAL ARTICLE
Kyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, Molly E V Swanson, Ji Hun Yoo, Nasim F Mehrabi, Clinton Turner, Michael Dragunow, Richard L M Faull, Maurice A Curtis, Teepu Siddique, Christopher E Shaw, Kathy L Newell, Lyndal Henden, Kelly L Williams, Garth A Nicholson, Emma L Scotter
Pathogenic variants in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia characterised by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus, and spinal cord. However, ubiquilin 2 neuropathology is also seen in sporadic and familial amyotrophic lateral sclerosis and/or frontotemporal dementia cases not caused by UBQLN2 pathogenic variants, particularly C9orf72-linked cases. This makes the mechanistic role of mutant ubiquilin 2 protein and the value of ubiquilin 2 pathology for predicting genotype unclear...
May 4, 2024: Brain
#4
JOURNAL ARTICLE
Yaoru Li, Ziying Yang, Yanxin Zhang, Fang Liu, Jing Xu, Yaping Meng, Gebeili Xing, Xuqin Ruan, Jun Sun, Nan Zhang
BACKGROUND: Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) account for the vast majority of neurodegenerative dementias. AD and FTLD have different clinical phenotypes with a genetic overlap between them and other dementias. OBJECTIVE: This study aimed to identify the genetic spectrum of sporadic AD and FTLD in the Chinese population. METHODS: A total of 74 sporadic AD and 29 sporadic FTLD participants were recruited...
April 29, 2024: Journal of Alzheimer's Disease: JAD
#5
REVIEW
Francesca R Buccellato, Marianna D'Anca, Gianluca Martino Tartaglia, Massimo Del Fabbro, Daniela Galimberti
INTRODUCTION: Frontotemporal dementia (FTD) includes a group of neurodegenerative diseases characterized clinically by behavioral disturbances and by neurodegeneration of brain anterior temporal and frontal lobes, leading to atrophy. Apart from symptomatic treatments, there is, at present, no disease-modifying cure for FTD. AREAS COVERED: Three main mutations are known as causes of familial FTD, and large consortia have studied carriers of mutations, also in preclinical Phases...
April 30, 2024: Expert Opinion on Investigational Drugs
#6
JOURNAL ARTICLE
Andrew T Nelson, Maria Elena Cicardi, Shashirekha S Markandaiah, John Ys Han, Nancy J Philp, Emily Welebob, Aaron R Haeusler, Piera Pasinelli, Giovanni Manfredi, Hibiki Kawamata, Davide Trotti
The most prevalent genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia is a (GGGGCC)n nucleotide repeat expansion (NRE) occurring in the first intron of the C9orf72 gene (C9). Brain glucose hypometabolism is consistently observed in C9-NRE carriers, even at pre-symptomatic stages, but its role in disease pathogenesis is unknown. Here, we show alterations in glucose metabolic pathways and ATP levels in the brains of asymptomatic C9-BAC mice. We find that, through activation of the GCN2 kinase, glucose hypometabolism drives the production of dipeptide repeat proteins (DPRs), impairs the survival of C9 patient-derived neurons, and triggers motor dysfunction in C9-BAC mice...
April 29, 2024: EMBO Reports
#7
JOURNAL ARTICLE
Sana Mohammadi, Sadegh Ghaderi, Mahdi Mohammadi, Zahra Najafi Asli Pashaki, Rahim Khatyal, Fatemeh Mohammadian, Sahar Mohammadjani
BACKGROUND: Motor neuron diseases (MNDs) are progressive neurodegenerative disorders characterized by motor impairment and non-motor symptoms. The involvement of the thalamus in MNDs, especially in conditions such as amyotrophic lateral sclerosis (ALS), and its interaction with frontotemporal dementia (FTD), has garnered increasing research interest. This systematic review analyzed magnetic resonance imaging (MRI) studies that focused on thalamic alterations in MNDs to understand the significance of these changes and their correlation with clinical outcomes...
April 10, 2024: Journal of Integrative Neuroscience
#8
JOURNAL ARTICLE
Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Conforti
The discovery of hexanucleotide repeats expansion (RE) in Chromosome 9 Open Reading frame 72 ( C9orf72) as the major genetic cause of amyotrophic lateral sclerosis (ALS) and the association between intermediate repeats in Ataxin-2 ( ATXN2) with the disorder suggest that repetitive sequences in the human genome play a significant role in ALS pathophysiology. Investigating the frequency of repeat expansions in ALS in different populations and ethnic groups is therefore of great importance. Based on these premises, this study aimed to define the frequency of REs in the NIPA1 , NOP56, and NOTCH2NLC genes and the possible associations between phenotypes and the size of REs in the Italian population...
April 14, 2024: Cells
#9
JOURNAL ARTICLE
Riccardo Sirtori, Michelle J Gregoire, Emily M Potts, Alicia Collins, Liviana Donatelli, Claudia Fallini
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of ALS is not fully understood, emerging research suggests that dysfunction of the nuclear envelope (NE) may contribute to disease pathogenesis and progression. The NE plays a role in ALS through several mechanisms, including nuclear pore defects, nucleocytoplasmic transport impairment, accumulation of mislocalized proteins, and nuclear morphology abnormalities...
April 25, 2024: Acta Neuropathologica Communications
#10
JOURNAL ARTICLE
Natalia Jaroszynska, Andrea Salzinger, Themistoklis M Tsarouchas, Catherina G Becker, Thomas Becker, David A Lyons, Ryan B MacDonald, Marcus Keatinge
Hexanucleotide repeat expansions within the gene C9ORF72 are the most common cause of the neurodegenerative diseases Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD). This disease-causing expansion leads to a reduction in C9ORF72 expression levels in patients, suggesting loss of C9ORF72 function could contribute to disease. To further understand the consequences of C9ORF72 deficiency in vivo, we generated a c9orf72 mutant zebrafish line. Analysis of the adult female spinal cords revealed no appreciable neurodegenerative pathology such as loss of motor neurons, or increased levels of neuroinflammation...
April 24, 2024: Journal of Neuroscience
#11
JOURNAL ARTICLE
Charlotte Zejlon, Stefan Sennfält, Johannes Finnsson, Bryan Connolly, Sven Petersson, Tobias Granberg, Caroline Ingre
OBJECTIVE: Magnetic resonance imaging can detect neurodegenerative iron accumulation in the motor cortex, called the motor band sign. This study aims to evaluate its sensitivity/specificity and correlations to symptomatology, biomarkers, and clinical outcome in amyotrophic lateral sclerosis. METHODS: This prospective study consecutively enrolled 114 persons with amyotrophic lateral sclerosis and 79 mimics referred to Karolinska University Hospital, and also 31 healthy controls...
April 22, 2024: Annals of Clinical and Translational Neurology
#12
JOURNAL ARTICLE
Elena Niccolai, Matteo Pedone, Ilaria Martinelli, Giulia Nannini, Simone Baldi, Cecilia Simonini, Leandro Di Gloria, Elisabetta Zucchi, Matteo Ramazzotti, Pietro Giorgio Spezia, Fabrizio Maggi, Gianluca Quaranta, Luca Masucci, Gianluca Bartolucci, Francesco Claudio Stingo, Jessica Mandrioli, Amedeo Amedei
Amyotrophic lateral sclerosis (ALS) is an untreatable and clinically heterogeneous condition primarily affecting motor neurons. The ongoing quest for reliable biomarkers that mirror the disease status and progression has led to investigations that extend beyond motor neurons' pathology, encompassing broader systemic factors such as metabolism, immunity, and the microbiome. Our study contributes to this effort by examining the potential role of microbiome-related components, including viral elements, such as torque tenovirus (TTV), and various inflammatory factors, in ALS...
April 21, 2024: Journal of Neurology
#13
JOURNAL ARTICLE
Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A Finch, Matthew C Baker, Cyril Pottier, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, David S Knopman, Keith A Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F Gendron, Dennis W Dickson, Rosa Rademakers, Marka van Blitterswijk
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the gene C9orf72. Importantly, the transcriptomic consequences of the C9orf72 repeat expansion remain largely unclear. Here, we used short-read RNA sequencing (RNAseq) to profile the cerebellar transcriptome, detecting alterations in patients with a C9orf72 repeat expansion. We focused on the cerebellum, since key C9orf72-related pathologies are abundant in this neuroanatomical region, yet TDP-43 pathology and neuronal loss are minimal...
April 19, 2024: Acta Neuropathologica
#14
Sai Zhang, Tobias Moll, Jasper Rubin-Sigler, Sharon Tu, Shuya Li, Enming Yuan, Menghui Liu, Afreen Butt, Calum Harvey, Sarah Gornall, Elham Alhalthli, Allan Shaw, Cleide Dos Santos Souza, Laura Ferraiuolo, Eran Hornstein, Tatyana Shelkovnikova, Charlotte H van Dijk, Ilia S Timpanaro, Kevin P Kenna, Jianyang Zeng, Philip S Tsao, Pamela J Shaw, Justin K Ichida, Johnathan Cooper-Knock, Michael P Snyder
Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease caused by the selective and progressive death of motor neurons (MNs). Understanding the genetic and molecular factors influencing ALS survival is crucial for disease management and therapeutics. In this study, we introduce a deep learning-powered genetic analysis framework to link rare noncoding genetic variants to ALS survival. Using data from human induced pluripotent stem cell (iPSC)-derived MNs, this method prioritizes functional noncoding variants using deep learning, links cis-regulatory elements (CREs) to target genes using epigenomics data, and integrates these data through gene-level burden tests to identify survival-modifying variants, CREs, and genes...
April 1, 2024: medRxiv
#15
Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle Brushaber, Adam M Staffaroni, Daniel Geschwind, Amy Wolf, Kejal Kantarci, Tania F Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew C Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas R Galasko, Nupur Ghoshal, Neill Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek Robin Hsiung, Edward D Huey, David Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi Onyike, Belen Pascual, Peter Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, M Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademakers
BACKGROUND AND OBJECTIVES: TMEM106B has been proposed as a modifier of disease risk in FTLD-TDP, particularly in GRN mutation carriers. Furthermore, TMEM106B has been investigated as a disease modifier in the context of healthy aging and across multiple neurodegenerative diseases. The objective of this study is to evaluate and compare the effect of TMEM106B on gray matter volume and cognition in each of the common genetic FTD groups and in sporadic FTD patients. METHODS: Participants were enrolled through the ARTFL/LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study, which includes symptomatic and presymptomatic individuals with a pathogenic mutation in C9orf72, GRN, MAPT, VCP, TBK1, TARDBP, symptomatic non-mutation carriers, and non-carrier family controls...
April 5, 2024: medRxiv
#16
JOURNAL ARTICLE
Taiqi Zhao, Suying Duan, Jiaqi Li, Honglin Zheng, Chenyang Liu, Hang Zhang, Haiyang Luo, Yuming Xu
Over 50 genetic human disorders are attributed to the irregular expansion of microsatellites. These expanded microsatellite sequences can experience bidirectional transcription, leading to new reading frames. Beyond the standard AUG initiation or adjacent start codons, they are translated into proteins characterized by disease-causing amino acid repeats through repeat-associated non-AUG translation. Despite its significance, there's a discernible gap in comprehensive and objective articles on RAN translation...
April 30, 2024: Heliyon
#17
JOURNAL ARTICLE
Dalit Barel, Daphna Marom, Penina Ponger, Alina Kurolap, Anat Bar-Shira, Idit Kaplan-Ber, Adi Mory, Beatrice Abramovich, Yuval Yaron, Vivian Drory, Hagit Baris Feldman
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with the C9orf72 repeat expansion being the most common genetic cause. While the prevalence of C9orf72-ALS in patients from different populations has been studied, data regarding the yield of C9orf72 compared to an ALS gene panel testing is limited.We aimed to explore the application of C9orf72 versus a gene panel in the general Israeli population. A total of 140 ALS patients attended our Neurogenetics Clinic throughout 2018-2023...
April 16, 2024: Journal of Neurology
#18
JOURNAL ARTICLE
Maurice Pasternak, Saira S Mirza, Nicholas Luciw, Henri J M M Mutsaerts, Jan Petr, David Thomas, David Cash, Martina Bocchetta, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ekaterina Rogaeva, Lucy L Russell, Arabella Bouzigues, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Robert Laforce, Pietro Tiraboschi, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Chris Butler, Alex Gerhard, Raquel Sanchez-Valle, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Johannes Levin, Markus Otto, Isabel Santana, Antonio P Strafella, Bradley J MacIntosh, Jonathan D Rohrer, Mario Masellis
INTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers. METHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non-carrier controls...
April 16, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#19
JOURNAL ARTICLE
Kiran Samra, Georgia Peakman, Amy M MacDougall, Arabella Bouzigues, Caroline V Greaves, Rhian S Convery, John C van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Lucy L Russell
INTRODUCTION: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI)...
2024: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
#20
JOURNAL ARTICLE
Aradhana Sachdev, Kamaljot Gill, Maria Sckaff, Alisha M Birk, Olubankole Aladesuyi Arogundade, Katherine A Brown, Runvir S Chouhan, Patrick Oliver Issagholian-Lewin, Esha Patel, Hannah L Watry, Mylinh T Bernardi, Kathleen C Keough, Yu-Chih Tsai, Alec Simon Tulloch Smith, Bruce R Conklin, Claire Dudley Clelland
Efforts to genetically reverse C9orf72 pathology have been hampered by our incomplete understanding of the regulation of this complex locus. We generated five different genomic excisions at the C9orf72 locus in a patient-derived induced pluripotent stem cell (iPSC) line and a non-diseased wild-type (WT) line (11 total isogenic lines), and examined gene expression and pathological hallmarks of C9 frontotemporal dementia/amyotrophic lateral sclerosis in motor neurons differentiated from these lines. Comparing the excisions in these isogenic series removed the confounding effects of different genomic backgrounds and allowed us to probe the effects of specific genomic changes...
April 23, 2024: Proceedings of the National Academy of Sciences of the United States of America
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