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Brain hypometabolism in rare genetic neurodegenerative disease: Niemann-Pick disease type C, spinocerebellar ataxia and Huntington disease assessed by FDG PET [PDF]
Asia Oceania Journal of Nuclear Medicine and Biology, 2021 Brain metabolic imaging using 18F-fluorodeoxyglucose (FDG) Positron Emission Tomography (PET) with contemporaneous low-dose CT may be used to assess neurodegenerative diseases.
Yung Hsiang Kao +4 more
doaj +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
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
Anesthetic management of a patient with Huntington's chorea -A case report- [PDF]
Korean Journal of Anesthesiology, 2013 Huntington's chorea is a rare hereditary disorder of the nervous system. It is inherited as an autosomal dominant disorder and is characterized by progressive chorea, dementia and psychiatric disturbances.
Jong-Man Kang +5 more
doaj +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