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Neurology in Documentaries
Published in Eelco F. M. Wijdicks, Neurocinema—The Sequel, 2022
One disease in this category is Huntington’s disease. The documentary Do You Really Want to Know? (2012) , written and directed by John Zaritsky, accurately addresses these problems. Genetic testing for Huntington’s disease has been available since discovery of the gene in 1993 and now is able to prediagnose family members with a high probability, although nothing can be done to prevent disease onset. Genetic testing has outrun understanding of the pathogenesis and treatment of the disease (Figure 6.4). Huntington’s disease is a prime example of this medical quandary.15
Implication of Mitochondrial Coenzyme Q10 (Ubiquinone) in Alzheimer’s Disease *
Published in Abhai Kumar, Debasis Bagchi, Antioxidants and Functional Foods for Neurodegenerative Disorders, 2021
Sayantan Maitra, Dibyendu Dutta
Huntington’s disease (HD) is a neurodegenerative genetic disorder that results from an extension of cytosine–adenine–guanine (CAG) sequence repetition in the HD gene encoding for huntingtin (Htt), causing progressive death of striatal neurons, with clinical symptoms, including chorea, dementia, and dramatic weight loss. Strong evidence exists for early oxidative stress in HD, coupled with mitochondrial dysfunction, each exacerbating the other and leading to an energy deficit [69]. Oxidative stress plays a part in HD; therefore, CoQ10 can be used therapeutically to lower the generation of ROS.
Vitamin C Alimentation via SLC Solute Carriers
Published in Qi Chen, Margreet C.M. Vissers, Vitamin C, 2020
Damian Nydegger, Gergely Gyimesi, Matthias A. Hediger
Huntington disease is a genetic disorder caused by a mutation of the gene coding for Huntingtin. Mutation of Huntingtin leads to involuntary movements, cognitive deterioration, dementia, and weight loss. This protein is responsible for the intracellular trafficking of vesicles, organelles, and proteins to the cell surface. In immortalized striatal neurons expressing mutated Huntingtin, it was shown that SVCT2 is no longer able to translocate to the plasma membrane in response to increased extracellular ascorbic acid levels. Huntingtin is known to be associated to vesicles and microtubules, suggesting a role of this protein in the transport of SVCT2-containing vesicles, in order to deliver SVCT2 to the plasma membrane of neurons. Huntington disease is connected to increased oxidative damage in lipids, proteins, and DNA, highlighting the protecting role of vitamin C as an antioxidant in neurons. These results also highlight the possible role of SVCT2 in other neurodegenerative diseases such as Alzheimer and Parkinson diseases [71].
Healthcare resource utilization and cost among individuals with late-onset versus adult-onset Huntington’s disease: a claims‑based retrospective cohort study
Published in Journal of Medical Economics, 2023
Tu My To, Jamie T. Ta, Anisha M. Patel, Stella Arndorfer, Ibrahim M. Abbass, Rita Gandhy
Huntington’s disease (HD) is a rare, genetic and neurodegenerative disease that typically manifests between the ages of 30 and 50 years1,2, although onset can also occur during childhood3, or in later life4. HD is characterized by the development of a triad of behavioral, functional/motor and cognitive symptoms2,5. HD leads to increasing levels of disability, loss of independence, and is characterized by a median survival time of 15 years after the initial onset of definitive motor symptoms6. The disability resulting from HD causes significant impacts on health-related quality of life, particularly emotional/physical health and social wellbeing7, with worsening social health problems linked to increased disease burden8.
Epidemiology and economic burden of Huntington’s disease: a Canadian provincial public health system perspective
Published in Journal of Medical Economics, 2022
Eileen Shaw, Michelle Mayer, Paul Ekwaru, Suzanne McMullen, Erin Graves, Jennifer W. Wu, Nathalie Budd, Bridget Maturi, Tara Cowling, Tiago A. Mestre
Huntington’s disease (HD) is a rare neurological disorder with autosomal dominant inheritance, with typical onset between 30 and 50 years of age1,2. HD has an estimated disease prevalence of 4.0–13.9 individuals per 100,000 in the general population in Canada and up to 17.2 per 100,000 in the Caucasian population specifically, using data primarily collected in the province of British Columbia3–5. Estimates extrapolated from Fisher and Hayden3 suggest that there are up to 4,700 individuals affected with HD and 14,000 at 50% risk for HD in Canada. Current evidence suggests that the prevalence of HD may be increasing, both in Canada and globally3,5, which may be due to a combination of factors including: improved disease-specific knowledge, greater availability of genetic testing, diminished stigma around HD diagnosis5, expanding cytosine, adenine, and guanine repeats over time6, increasing mutation rates, increasing population life expectancy, and greater availability of symptomatic HD treatments (e.g. anti-choreiform, antidepressant medications)5.
Cognition-oriented treatments and physical exercise on cognitive function in Huntington’s disease: protocol for systematic review
Published in Physical Therapy Reviews, 2022
Katharine Huynh, Leila Nategh, Sharna Jamadar, Nellie Georgiou-Karistianis, Amit Lampit
Huntington’s disease (HD) is a genetically inherited neurodegenerative disease that causes progressive motor, psychiatric and cognitive decline [1, 2]. Although diagnosis is based on motor symptoms, cognitive impairment is prevalent. In the pre-manifest phase of HD (prior to onset of diagnosable motor symptoms), mild cognitive impairment is reported in 40% of individuals [3], and this proportion increases to over 80% at the onset of manifest disease (where motor symptoms are sufficient for clinical diagnosis) [4]. Additionally, 5% of individuals are classified as having dementia at the stage of diagnosis [4]. Although cognitive symptoms are reported to have the greatest impact on quality of life beyond motor and psychiatric symptoms, there are no current pharmacological treatments available to improve or maintain cognition in HD [1, 5].