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Article

Genetic and Environmental Contributors to Neurodegeneration: An Exploration of the Effects of Alcohol on Clinical Features of Huntington’s Disease Using the Enroll-HD Global Platform

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool L9 7LJ, UK
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Author to whom correspondence should be addressed.
Academic Editor: Paul B. Tchounwou
Int. J. Environ. Res. Public Health 2021, 18(10), 5113; https://doi.org/10.3390/ijerph18105113
Received: 31 March 2021 / Revised: 6 May 2021 / Accepted: 8 May 2021 / Published: 12 May 2021
(This article belongs to the Special Issue Health Inequalities in Dementia Care)
Huntington’s disease (HD) is a neurodegenerative dementia with a well recognised genetic cause. Alcohol misuse is a major environmental factor relevant to numerous neurological presentations, including HD. We explored the effects of alcohol intake on clinical features of HD by means of data from the Enroll-HD, which is a global registry study. A retrospective observational study making use of the Enroll-HD periodic dataset up to 2020 (in accordance with the Enroll-HD guidelines, encompassing 16,120 subjects with the HD gene (CAG expansion > 36), was carried out. This included 180 sites in 21 countries. The study looked at the association of alcohol use with the clinical presentation of HD, specifically looking into the age of first symptoms and HD severity. We also describe a specific case with manifest HD, a participant in the Enroll-HD study, whereby the patient’s obsessionality was central to her pattern of high alcohol intake and to her successful avoidance of alcohol thereafter. A record of past problems with high alcohol intake was more common in the group with manifest HD (9.0%, n = 1121) when compared with the pre-manifest carriers of the HD genetic abnormality (2.3%, n = 339). Age at onset of symptoms was not significantly influenced by current alcohol misuse, or past misuse. The severity of clinical impairments in HD was influenced by alcohol. Patients who reported high alcohol intake in the past had a statistically significant increase in motor impairments, by the Unified Huntington’s Disease Rating Scale total motor score (Kruskal–Wallis, post hoc Dunn’s, p < 0.001), and a significantly higher burden of psychiatric symptoms by the Problem Behaviours Assessment score (Kruskal–Wallis, post hoc Dunn’s, p < 0.01) compared with those not reporting high alcohol use. However, the past alcohol group did not have a lower Mini Mental State Examination score (Kruskal–Wallis, post hoc Dunn’s, p > 0.05) The first symptom of HD, as determined by the assessing clinician, was more likely to be psychiatric disturbance in patients currently misusing alcohol or those with prior history of alcohol misuse (55% and 31% respectively) when compared with controls (5%). Individual case experience, such as that presented in this study, shows that HD and alcohol, two major genetic and environmental contributors to neurodegeneration, interact in producing clinical problems. However, the complexities of these interactions are difficult to define, and may require larger studies dedicated to exploring the various factors in this interaction. View Full-Text
Keywords: Huntington’s disease; alcohol; neurodegeneration Huntington’s disease; alcohol; neurodegeneration
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MDPI and ACS Style

Symonds, A.L.; Macerollo, A.; Foy, K.; Alusi, S.H.; Davies, R. Genetic and Environmental Contributors to Neurodegeneration: An Exploration of the Effects of Alcohol on Clinical Features of Huntington’s Disease Using the Enroll-HD Global Platform. Int. J. Environ. Res. Public Health 2021, 18, 5113. https://doi.org/10.3390/ijerph18105113

AMA Style

Symonds AL, Macerollo A, Foy K, Alusi SH, Davies R. Genetic and Environmental Contributors to Neurodegeneration: An Exploration of the Effects of Alcohol on Clinical Features of Huntington’s Disease Using the Enroll-HD Global Platform. International Journal of Environmental Research and Public Health. 2021; 18(10):5113. https://doi.org/10.3390/ijerph18105113

Chicago/Turabian Style

Symonds, Alexander L., Antonella Macerollo, Kevin Foy, Sundus H. Alusi, and Rhys Davies. 2021. "Genetic and Environmental Contributors to Neurodegeneration: An Exploration of the Effects of Alcohol on Clinical Features of Huntington’s Disease Using the Enroll-HD Global Platform" International Journal of Environmental Research and Public Health 18, no. 10: 5113. https://doi.org/10.3390/ijerph18105113

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