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Huntington's Disease

Pediatric Neurology Briefs, 1989
The positron-emission tomography (PET) findings in a seven year old girl with the juvenile form of Huntington's disease are described from the Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal, Canada.
J Gordon Millichap
doaj   +4 more sources

The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2000
Huntington's Disease (HD) is caused by an expansion of a polyglutamine tract within the huntingtin (htt) protein. Pathogenesis in HD appears to include the cytoplasmic cleavage of htt and release of an amino-terminal fragment capable of nuclear ...
J. Steffan, A. Kazantsev, O. Spasic-Boskovic, Marilee Greenwald, Ya-zhen Zhu, H. Göhler, E. Wanker, G. Bates, D. Housman, L. Thompson   +9 more
semanticscholar   +2 more sources

Progressive alterations in white matter microstructure across the timecourse of Huntington's disease

Brain and Behavior, 2023
Background Whole‐brain longitudinal diffusion studies are crucial to examine changes in structural connectivity in neurodegeneration. Here, we investigated the longitudinal alterations in white matter (WM) microstructure across the timecourse of ...
Carlos Estevez‐Fraga, Michael S. Elmalem, Marina Papoutsi, Alexandra Durr, Elin M. Rees, Nicola Z. Hobbs, Raymund A. C. Roos, Bernhard Landwehrmeyer, Blair R. Leavitt, Douglas R. Langbehn, Rachael I. Scahill, Geraint Rees, Sarah J. Tabrizi, Sarah Gregory   +13 more
doaj   +1 more source

Bioinformatic analysis of a microRNA regulatory network in Huntington's disease [PDF]

Journal of Integrative Neuroscience, 2020
Huntington's disease is an autosomal dominant hereditary neurodegenerative disease characterized by progressive dystonia, chorea and cognitive or psychiatric disturbances.
Zhi-Min Wang, Xiao-Yu Dong, Shu-Yan Cong
doaj   +1 more source

Ex vivo 100 μm isotropic diffusion MRI‐based tractography of connectivity changes in the end‐stage R6/2 mouse model of Huntington's disease

Neuroprotection, 2023
Background Huntington's disease is a progressive neurodegenerative disorder. Brain atrophy, as measured by volumetric magnetic resonance imaging (MRI), is a downstream consequence of neurodegeneration, but microstructural changes within brain tissue are ...
Ashwinee Manivannan, Lesley M. Foley, T. Kevin Hitchens, Ivan Rattray, Gillian P. Bates, Michel Modo   +5 more
doaj   +1 more source

Case report: Cerebellar sparing in juvenile Huntington's disease

Frontiers in Neurology, 2023
Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of
Bruno Lopes Santos-Lobato, Bruno Lopes Santos-Lobato, Jéssica Santos de Souza Rocha, Luciano Chaves Rocha   +3 more
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New Avenues for the Treatment of Huntington’s Disease

International Journal of Molecular Sciences, 2021
Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HD gene. The disease is characterized by neurodegeneration, particularly in the striatum and cortex.
A. Kim, Kathryn Lalonde, Aaron Truesdell, Priscilla Gomes Welter, P. Brocardo, T. Rosenstock, J. Gil-Mohapel   +6 more
semanticscholar   +1 more source

Huntington’s disease: diagnosis and management

Practical Neurology, 2021
Huntington’s disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification
T. Stoker, S. Mason, J. Greenland, S. Holden, Helen Santini, R. Barker   +5 more
semanticscholar   +1 more source

Molecular Pathophysiological Mechanisms in Huntington’s Disease

Biomedicines, 2022
Huntington’s disease is an inherited neurodegenerative disease described 150 years ago by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 4. In the following
Anamaria Jurcău
semanticscholar   +1 more source

Combined use of a double-lumen tube and Fogarty catheter to prevent the endobronchial spread of infection: a case report [PDF]

Korean Journal of Anesthesiology, 2016
Huntington's disease is a neurodegenerative disorder with an autosomal dominant inheritance pattern. Patients with Huntington's disease show an increased risk of aspiration pneumonia when the pharyngeal muscle is invaded.
Jaewon Kim, Hyelim Lee, Han Park, Chang-Young Jeong   +3 more
doaj   +1 more source