Results 161 to 170 of about 9,496,868 (341)

A 14‐Year Study of Serum Glial Fibrillary Acidic Protein and Total Tau in Premanifest Huntington's

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT There is a pressing need for blood biomarkers that can identify Huntington's disease (HD) gene carriers' proximity to manifest disease. We previously examined serial serum neurofilament light (NfL) concentrations in 21 premanifest HD gene carriers and 14 controls over 14 years, finding that NfL demonstrates high prognostic value and distinct ...
Natalia E. Owen, Zanna J. Voysey, Jonathan A. Holbrook, Maura Malpetti, Clara Le Draoulec, Lennart R. B. Spindler, Anna O. G. Goodman, Alpar S. Lazar, Roger A. Barker   +8 more
wiley   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice

Scientific Reports
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by CAG trinucleotide repeat expansions in exon 1 of the HTT gene. In addition to germline CAG expansions, somatic repeat expansions in neurons also contribute to HD pathogenesis.
Rachelle Driscoll, Lucas Hampton, Neeta A. Abraham, J. Douglas Larigan, Nadine F. Joseph, Juan C. Hernandez-Vega, Sarah Geisler, Fu-Chia Yang, Matthew Deninger, David T. Tran, Natasha Khatri, Bruno M. D. C. Godinho, Garth A. Kinberger, Daniel R. Montagna, Warren D. Hirst, Catherine L. Guardado, Kelly E. Glajch, H. Moore Arnold, Corrie L. Gallant-Behm, Andreas Weihofen   +19 more
doaj   +1 more source

Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases.

Cold Spring Harbor Perspectives in Biology, 2018
Neurodegenerative diseases are a common cause of morbidity and cognitive impairment in older adults. Most clinicians who care for the elderly are not trained to diagnose these conditions, perhaps other than typical Alzheimer's disease (AD). Each of these
Michael G. Erkkinen, Mee‐Ohk Kim, M. Geschwind   +2 more
semanticscholar   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Vitamin B12 measurements across neurodegenerative disorders. [PDF]

, 2020
Background:Vitamin B12 deficiency causes a number of neurological features including cognitive and psychiatric disturbances, gait instability, neuropathy, and autonomic dysfunction. Clinical recognition of B12 deficiency in neurodegenerative disorders is
Christine, Chadwick W, Hills, Nancy K, Luthra, Nijee S, Marcus, Ariane H   +3 more
core  

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease

Scientific Reports
Cognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 ...
Rocio Del Pino, Maria Ángeles Acera, Amaia Ortiz de Echevarrría, Beatriz Tijero, Marta Ruiz-Lopez, Johanne Somme, Javier Ruiz-Martínez, Andrea Gabilondo, Ioana M. Croitoru, Lara Pardina, Naia Ayo-Mentxakatorre, Ane Murueta-Goyena, Iñigo Gabilondo, Rosario Sanchez-Pernaute, Tamara Fernández-Valle, Juan Carlos Gómez Esteban   +15 more
doaj   +1 more source

Effect of lithium on acetylcholine esterase activity, and isozyme pattern in developing chick brain [PDF]

, 2004
Acetylcholine Esterase is an enzyme, which hydrolyses acetylcholine and is used as a marker for cholinergic neural function. It is known to be involved in synaptogenesis.
Gouri, Ms Anahita, Rajadhyaksha, Dr Medha, Ramachandran, Dr Hema, Sathe, Ms Kinneri   +3 more
core