Results 81 to 90 of about 5,067,029 (185)

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, Volume 41, Issue 6, Page 1516-1527, June 2026.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Brazilian Journal of Medical and Biological Research, 2006
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported.
H.H. Ruocco, I. Lopes-Cendes, L.M. Li, M. Santos-Silva, F. Cendes   +4 more
doaj   +1 more source

4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj   +1 more source

Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington's disease gene expansion carriers

, 2018
Background Huntington's disease (HD) gene expansion carriers are at an increased risk of suicide, but so far, no studies have investigated the full spectrum of suicidality, including suicidal ideation, suicidal behavior and self-injurious behavior ...
van Duijn, Erik, Giltay, Erik J., Vrijmoeth, Eslie M., Silvia, Romano., Giovanni, Ristori, Bernhard Landwehrmeyer, G, Michela, Ferraldeschi, REGISTRY investigators of the European Huntington's Disease Network   +7 more
core   +1 more source

Voxel-based morphometry in the R6/2 transgenic mouse reveals differences between genotypes not seen with manual 2D morphometry

Neurobiology of Disease, 2009
The R6/2 mouse is the most common mouse model used for Huntington's disease (HD), a fatal, inherited neurodegenerative CAG disorder characterized by marked brain atrophy. We scanned 47 R6/2 transgenic and 42 wildtype (WT) ex vivo mouse brains at 18 weeks
S.J. Sawiak, N.I. Wood, G.B. Williams, A.J. Morton, T.A. Carpenter   +4 more
doaj   +1 more source

Dehnel's Phenomenon in Mammals

Mammal Review, Volume 56, Issue 2, June 2026.
Some small mammals, which remain active year‐round, undergo reversible reductions in body size, braincase height, and the mass of internal organs, including the brain, from summer to winter. It is called Dehnel's phenomenon. In this review, we summarise knowledge of the mechanisms, adaptive value, and genetic basis of the phenomenon, and show how new ...
Jan R. E. Taylor, Cecilia Baldoni, Dina K. N. Dechmann   +2 more
wiley   +1 more source

Huntington's Disease Association of Ireland [explanatory report].

, 1998
Huntington's Disease Association of Ireland: (HDAI) provides consultation, information and individualised support to those diagnosed with Huntington's disease (HD), their families and their health care team.
Hunington's Disease Association of Ireland.
core  

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons [PDF]

, 2009
Huntington's Disease is a neurodegenerative condition caused by a polyglutamine expansion in thehuntingtin (Htt) protein, which aggregates and also causes neuronal dysfunction. Pathogenic N-terminal httfragments perturb axonal transport in vitro.
Burbidge-King, T., Thompson, LM, Sinadinos, Christopher, Sinadinos, C, Marsh, J.L, Soh, D, Wyttenbach, Andreas, Mudher, Amritpal, Wyttenbach, A, Marsh, JL, Soh, D., Burbidge-King, T, Mudher, AK, Thompson, L.M.   +13 more
core   +1 more source

Altered Adipocyte Cell Size Distribution Prior to Weight Loss in the R6/2 Model of Huntington's Disease

, 2023
BACKGROUND: Metabolic alterations contribute to disease onset and prognosis of Huntington's disease (HD). Weight loss in the R6/2 mouse model of HD is a consistent feature, with onset in mid-to-late stage of disease.
Björkqvist, Maria,, Dickson, Elna,, Soylu-Kucharz, Rana,, Fryklund, Claes,, Sjögren, Marie,, Lund University., Stenkula, Karin G,   +6 more
core   +1 more source