Results 111 to 120 of about 21,720 (221)

Age-related penetrance of the C9orf72 repeat expansion [PDF]

, 2017
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).
Arthur, Karissa C., Chio, Adriano, Houlden, Henry, Murphy, Natalie A., Tienari, Pentti J., Traynor, Bryan J.   +5 more
core   +2 more sources

Digital seed amplification assay for TDP‐43 aggregate quantification in CSF

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Dementia is commonly caused by underlying pathologies driven by misfolded protein aggregates. Although dementia subtypes have distinct mechanisms, overlapping symptoms make diagnosis without biomarkers difficult. Misdiagnosis has previously hindered drug development by enrolling patients non‐specifically in trials.
Ella Borberg, Zoe Swank, Tal Gilboa, Lily A. Wickland Shearer, Arek V. Melkonian, Justin C. Rolando, David R. Walt, Andrew M. Stern   +7 more
wiley   +1 more source

NAD+‒circadian rhythm coupling in dementia

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract The circadian rhythm system and sleep coordinate whole‐body functions across the 24‐h cycle, yet these rhythms progressively deteriorate with neurodegenerative diseases, including dementia. Growing evidence indicates that nicotinamide adenine dinucleotide (NAD+) interacts with the circadian system through multiple molecular pathways and that ...
Shi‐qi Zhang, Jiyeon Lee, Jun‐ping Pan, Rune Enger, Harald Hrubos‐Strøm, Erik S. Musiek, Evandro Fei Fang, Weidong Le   +7 more
wiley   +1 more source

Individualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling

Annals of Neurology, Volume 99, Issue 5, Page 1315-1326, May 2026.
Objective Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.
Shubir Dutt, Dana Leichter, Yann Cobigo, Amy Wolf, John Kornak, Annie Clark, Lucy L. Russell, Arabella Bouzigues, David M. Cash, Martina Bocchetta, Molly Olzinski, Brian Appleby, Ece Bayram, Barbara Borroni, Andrea Bozoki, Chris R. Butler, David Clark, Rhian S. Convery, R. Ryan Darby, Alexandre de Mendonça, Bradford Dickerson, Kimiko Domoto‐Reilly, Simon Ducharme, Eve Ferry‐Bolder, Elizabeth Finger, Phoebe H. Foster, Douglas R. Galasko, Daniela Galimberti, Alexander Gerhard, Nupur Ghoshal, Caroline Graff, Neill Graff‐Radford, Ian M. Grant, Chadwick M. Hales, Lawrence S. Honig, Ging‐Yuek Hsiung, Edward D. Huey, David Irwin, Lize C. Jiskoot, Walter Kremers, Justin Y. Kwan, Robert Laforce, Isabelle Le Ber, Gabriel C. Léger, Johannes Levin, Irene Litvan, Ian R. Mackenzie, Mario Masellis, Mario F. Mendez, Fermin Moreno, Chiadi Onyike, Markus Otto, Belen Pascual, Peter Pressman, Rosa Rademakers, Eliana Marisa Ramos, Aaron Ritter, Erik D. Roberson, James B. Rowe, Raquel Sanchez‐Valle, Isabel Santana, Harro Seelaar, Allison Snyder, Sandro Sorbi, Matthis Synofzik, Maria Carmela Tartaglia, Pietro Tiraboschi, John C. van Swieten, Marijne Vandebergh, Rik Vandenberghe, Hilary W. Heuer, Bruce L. Miller, William W. Seeley, Maria Luisa Gorno‐Tempini, Joel H. Kramer, Leah Forsberg, Kejal Kantarci, Bradley F. Boeve, Adam L. Boxer, Jonathan D. Rohrer, Howard J. Rosen, Adam M. Staffaroni, FTD Prevention Initiative (FPI) investigators   +82 more
wiley   +1 more source

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72

Journal of Central Nervous System Disease, 2015
Background Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72 ) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and ...
Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Satoh   +8 more
doaj   +1 more source

Ice bucket challenge bears fruit for amyotrophic lateral sclerosis [PDF]

, 2016
In 2014, the ‘ice bucket challenge’ raised over $140 million worldwide for research into amyotrophic lateral sclerosis (ALS). This unprecedented boost to research funding is now beginning to deliver significant advances in our understanding of the ...
Hrastelj, James, Robertson, Neil
core   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Upregulation of sphingomyelin and ABCA8 in response to TDP‐43 pathology in amyotrophic lateral sclerosis brain

Brain Pathology, Volume 36, Issue 3, May 2026.
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik, Russell Pickford, Nicolas Dzamko, Kerry‐Anne Rye, Woojin Scott Kim   +4 more
wiley   +1 more source

C9orf72 dipeptides activate the NLRP3 inflammasome

Brain Communications
Abstract Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases with considerable clinical, genetic and pathological overlap. The most common cause of both diseases is a hexanucleotide repeat expansion in C9orf72.
Jack Rivers-Auty, Christopher Hoyle, Ayesha Pointer, Catherine Lawrence, Stuart Pickering-Brown, David Brough, Sarah Ryan   +6 more
openaire   +3 more sources

The Association between C9orf72 Repeats and Risk of Alzheimer’s Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis

Parkinson's Disease, 2016
C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasian populations. However, the relationship between C9orf72 repeats and Alzheimer’s disease (AD) was not clear.
Li Shu, Qiying Sun, Yuan Zhang, Qian Xu, Jifeng Guo, Xinxiang Yan, Beisha Tang   +6 more
doaj   +1 more source