Results 11 to 20 of about 36,080 (282)
Nature Reviews Disease Primers, 2015 Huntington disease is devastating to patients and their families - with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course, and a combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the ...
Bates, Gillian P. +11 more
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Seminars in Cell Biology, 1995 Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
Saxby Pridmore, Lockwood Sa
openalex +3 more sources
Nursing Standard, 2004 Huntington's disease is a complex degenerative disorder that affects the central nervous system. Although it is a rare condition, nurses are ideally placed to assess and manage patients with the disease, while also providing information and support to family members.
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Cold Spring Harbor Perspectives in Biology, 2011 Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to ...
openaire +4 more sources
Huntington's disease clinical trials update: March 2025. [PDF]
J Huntingtons DisFarag M, Tabrizi SJ, Wild EJ.
europepmc +2 more sources
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 +4 more
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Monkey hybrid stem cells develop cellular features of Huntington's disease
BMC Cell Biology, 2010 Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as ...
Lorthongpanich Chanchao +9 more
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Juvenile Huntington’s disease: two case reports and a review of the literature
Journal of Medical Case Reports, 2020 Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest ...
Sigita Lesinskienė +5 more
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Neurobiology of Disease, 2015 Previous studies have shown activation of the immune system and altered immune response in Huntington's disease (HD) gene carriers. Here, we hypothesized that peripheral and central immune responses could be concurrent pathophysiological events and ...
Marios Politis +9 more
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Nature Communications, 2023 The corticostriatal dysfunction underlying Huntington’s disease remains incompletely understood. Here, the authors find increased intratelencephalic connectivity resulting from deficient cholinergic transmission in a mouse model of Huntington’s disease.
Tristano Pancani +9 more
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