Results 21 to 30 of about 9,105,589 (353)

Altered iron and myelin in premanifest Huntington's Disease more than 20 years before clinical onset: Evidence from the cross-sectional HD Young Adult Study

EBioMedicine, 2021
Background: Pathological processes in Huntington's disease (HD) begin many years prior to symptom onset. Recently we demonstrated that in a premanifest cohort approximately 24 years from predicted disease onset, despite intact function, there was ...
Eileanoir B. Johnson, Christopher S. Parker, Rachael I. Scahill, Sarah Gregory, Marina Papoutsi, Paul Zeun, Katherine Osborne-Crowley, Jessica Lowe, Akshay Nair, Carlos Estevez-Fraga, Kate Fayer, Geraint Rees, Hui Zhang, Sarah J. Tabrizi   +13 more
doaj  

Proteostasis in striatal cells and selective neurodegeneration in Huntington’s disease

Frontiers in Cellular Neuroscience, 2014
Selective neuronal loss is a hallmark of neurodegenerative diseases, including Huntington’s disease (HD). Although mutant huntingtin, the protein responsible for Huntington’s disease, is expressed ubiquitously, a subpopulation of neurons in the striatum ...
Julia eMargulis, Julia eMargulis, Steven eFinkbeiner, Steven eFinkbeiner, Steven eFinkbeiner   +4 more
doaj   +1 more source

Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.

PLoS ONE, 2015
Huntington's disease is a fatal neurodegenerative condition caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system is dysregulated in Huntington's disease and may contribute to its pathogenesis.
James R C Miller, Ulrike Träger, Ralph Andre, Sarah J Tabrizi   +3 more
doaj   +1 more source

Targeting Huntingtin Expression in Patients with Huntington's Disease.

New England Journal of Medicine, 2019
BACKGROUND Huntington's disease is an autosomal-dominant neurodegenerative disease caused by CAG trinucleotide repeat expansion in HTT, resulting in a mutant huntingtin protein.
S. Tabrizi, B. Leavitt, G. Landwehrmeyer, E. Wild, C. Saft, Roger A. Barker, Nick F. Blair, D. Craufurd, J. Priller, H. Rickards, A. Rosser, H. Kordasiewicz, C. Czech, E. Swayze, D. Norris, Tiffany L. Baumann, I. Gerlach, S. Schobel, E. Paz, Anne V Smith, C. Bennett, Roger M. Lane   +21 more
semanticscholar   +1 more source

Targeting several CAG expansion diseases by a single antisense oligonucleotide. [PDF]

PLoS ONE, 2011
To date there are 9 known diseases caused by an expanded polyglutamine repeat, with the most prevalent being Huntington's disease. Huntington's disease is a progressive autosomal dominant neurodegenerative disorder for which currently no therapy is ...
Melvin M Evers, Barry A Pepers, Judith C T van Deutekom, Susan A M Mulders, Johan T den Dunnen, Annemieke Aartsma-Rus, Gert-Jan B van Ommen, Willeke M C van Roon-Mom   +7 more
doaj   +1 more source

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases, 2010
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
R. Roos
semanticscholar   +1 more source

Huntington’s Disease Pathogenesis: Two Sequential Components

Journal of Huntington's Disease, 2021
Historically, Huntington’s disease (HD; OMIM #143100) has played an important role in the enormous advances in human genetics seen over the past four decades.
E. Hong, M. MacDonald, V. Wheeler, L. Jones, P. Holmans, M. Orth, D. Monckton, J. Long, S. Kwak, J. Gusella, Jong-Min Lee   +10 more
semanticscholar   +1 more source

Biomarkers of Oxidative Stress in Huntington's Disease and Other Neurological Disorders: a Comparative Study

Revista Finlay, 2023
Foundation: biomarkers of oxidative stress in Huntington's disease could predict the course of the disease and evaluate new treatments, but their nonspecific nature seems to prevent the identification of any useful marker.
Marisol Peña Sánchez, Gabriel Andrés Peña de los Santos, Gretel Riverón Forment, Gloria Lara Fernández, Tatiana Acosta Sánchez, Alina González-Quevedo Monteagudo   +5 more
doaj  

Astrocyte molecular signatures in Huntington’s disease

Science Translational Medicine, 2019
Astrocyte gene expression is altered in mouse models of Huntington’s disease and in postmortem brain samples from patients with HD. A shared signature Huntington’s disease is a neurodegenerative disorder caused by a dominant mutation in the HTT gene ...
Blanca Díaz-Castro, M. Gangwani, Xinzhu Yu, G. Coppola, B. Khakh   +4 more
semanticscholar   +1 more source

Premanifest Huntington's disease: Examination of oculomotor abnormalities in clinical practice. [PDF]

PLoS ONE, 2018
Different oculomotor abnormalities have been reported to occur in premanifest Huntington's disease. The aim of this study is to investigate which oculomotor items of the Unified Huntington's Disease Rating Scale (UHDRS) are affected in premanifest ...
Jessica Y Winder, Raymund A C Roos
doaj   +1 more source