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.

Understanding perspectives on whistleblowing is important in tackling a resistance to speaking out. This study aimed to elicit the views of medical students and doctors in Edendale Hospital, South Africa using a mixed-methods questionnaire study incorporating free text and tick-box answers. Thematic analysis and descriptive statistics were used to interpret the results. Fifty-eight doctors and medical students responded (87% response rate); the majority were surgeons at Edendale hospital. Seventeen percent did not understand the concept of whistleblowing, while 42% felt unable to report an adverse event. Motivation for reporting adverse events was overwhelmingly in the interests of patient safety (91%), but reluctance was mainly due to the potential consequences on workplace relationships (24%). The most common innovation suggested was a reporting structure (54%). These observations indicate workplace relationships are an important barrier to whistleblowing. Further research should expand on these concerns and explore staff knowledge about whistleblowing.

Huntington’s disease is an invariably fatal neurodegenerative disorder characterised by a triad of abnormal movement, progressive cognitive impairment and psychiatric or behavioural symptoms. This study looks at 53 patients from The Walton Centre EnrollHD database. In manifest patients, the most common presenting symptoms were psychiatric (n=17), followed by motor (n=13), cognitive (n=4) and mixed (n=2). Depression and bipolar disorder were common comorbidities (n=7, n=11). Of all patients, 29 drank over 14 units; two drank over 30 units a week. Two had a past medical history of alcohol abuse. Musculoskeletal comorbidities were more common in patients who abuse, or have abused alcohol (p<0.0001). The prevalence of psychiatric, cognitive and motor symptoms did not vary significantly with alcohol use. In addition, psychiatric symptoms did not occur earlier when drinking excessively (46 compared to 41 years old). Obsessivity, as measured by the Problem Behaviours Assessment, is on average higher in those that abuse alcohol versus those that do not drink (7.0 and 2.9 respectively). A one-tailed ANOVA indicated that this difference was not significant (p>0.05). The relationship between obsessivity and alcohol abuse is unclear in this small study sample, although it suggests a potential relationship between obsession and alcohol abuse.