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.


Journal

International journal of environmental research and public health
ISSN: 1660-4601
Titre abrégé: Int J Environ Res Public Health
Pays: Switzerland
ID NLM: 101238455

Informations de publication

Date de publication:
12 05 2021
Historique:
received: 31 03 2021
revised: 06 05 2021
accepted: 08 05 2021
entrez: 2 6 2021
pubmed: 3 6 2021
medline: 29 6 2021
Statut: epublish

Résumé

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%,

Identifiants

pubmed: 34065918
pii: ijerph18105113
doi: 10.3390/ijerph18105113
pmc: PMC8151139
pii:
doi:

Types de publication

Journal Article Observational Study

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Alexander L Symonds (AL)

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool L9 7LJ, UK.

Antonella Macerollo (A)

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool L9 7LJ, UK.

Kevin Foy (K)

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool L9 7LJ, UK.

Sundus H Alusi (SH)

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool L9 7LJ, UK.

Rhys Davies (R)

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool L9 7LJ, UK.

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Classifications MeSH