Results 11 to 20 of about 9,130,139 (414)
Principles and Practice of Movement Disorders, 2010 Huntington disease (HD) is a autosomal dominant neurodegenerative disease caused by expansion of a trinucleotide repeat (cytosine, adenine, and guanine [CAG]) on the short arm of chromosome four.
Joseph Jankovic +5 more
semanticscholar +2 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.
Jean Paul G. Vonsattel, Maxim Lianski
+15 more sources
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 +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 +5 more
semanticscholar +1 more source
Cold Spring Harbor Perspectives in Biology, 2011 Huntington's disease (HD) is an inherited disorder that causes neurological, cognitive, and psychiatric symptoms. Most patients with HD develop symptoms in all three of these domains, often concurrently. Problems in one area can impact and magnify symptoms in another domain.
openaire +6 more sources
Seminars in Neurology, 2007 Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between ...
Claire-Anne Gutekunst, Fran Norflus
openaire +7 more sources
PAK in Alzheimer disease, Huntington disease and X-linked mental retardation. [PDF]
, 2012 Developmental cognitive deficits including X-linked mental retardation (XLMR) can be caused by mutations in P21-activated kinase 3 (PAK3) that disrupt actin dynamics in dendritic spines.
Cole, Greg M +3 more
core +1 more source
The Many Facets of Unawareness in Huntington Disease
Tremor and Other Hyperkinetic Movements, 2014 Background: Unawareness or diminished awareness is present when a patient's perception of obvious disease manifestations and impact differ from that of observers such as clinicians or family members.Methods: We examined studies that specifically ...
Elizabeth McCusker, Clement T. Loy
doaj +1 more source
Circulating hsa-miR-323b-3p in Huntington's Disease: A Pilot Study
Frontiers in Neurology, 2021 The momentum of gene therapy in Huntington's disease (HD) deserves biomarkers from easily accessible fluid. We planned a study to verify whether plasma miRNome may provide useful peripheral “reporter(s)” for the management of HD patients. We performed an
Michela Ferraldeschi +19 more
doaj +1 more source