Selected health and lifestyle factors, cytosine‐adenine‐guanine status, and phenoconversion in Huntington's disease

Tanner, Caroline M.; Marder, Karen; Eberly, Shirley; Biglan, Kevin; Oakes, David; Shoulson, Ira

doi:10.1002/mds.27239

Cited by 25 publications

(4 citation statements)

References 24 publications

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“…At the present time, with no proven interventions, genetic testing for HD has personal and research but not clinical utility. Additionally, unlike the common diseases, it is not clear whether lifestyle changes will have a significant effect on the onset or phenotype of HD 19–22 . Until effective treatment/prevention exists, many people may continue to avoid genetic testing or may wish to learn their status without refinement.…”

Section: Questions Regarding Incorporating Modifiersmentioning

confidence: 99%

Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines

Goldman,

Uhlmann,

Naini

et al. 2023

Movement Disorders

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Section: Questions Regarding Incorporating Modifiersmentioning

confidence: 99%

Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines

Goldman,

Uhlmann,

Naini

et al. 2023

Movement Disorders

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“…In the 3-NP model of Huntington’s disease, A 2A R antagonism has been associated with worsening signs [ 78 ]. However, Tanner et al [ 79 ], based on their study results, concluded that only caffeinated soda, but not other caffeinated beverages, was associated with Huntington’s disease risk, nor was a combined caffeine dose associated, but this finding may be spurious, or not related to caffeine.…”

Section: The Role Of Caffeine In Various Systems In the Human Bodymentioning

confidence: 99%

Caffeine as a Factor Influencing the Functioning of the Human Body—Friend or Foe?

2021

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Nowadays, caffeine is one of the most commonly consumed substances, which presents in many plants and products. It has both positive and negative effects on the human body, and its activity concerns a variety of systems including the central nervous system, immune system, digestive system, respiratory system, urinary tract, etc. These effects are dependent on quantity, the type of product in which caffeine is contained, and also on the individual differences among people (sex, age, diet etc.). The main aim of this review was to collect, present, and analyze the available information including the latest discoveries on the impact of caffeine on human health and the functioning of human body systems, taking into account the role of caffeine in individual disease entities. We present both the positive and negative sides of caffeine consumption and the healing properties of this purine alkaloid in diseases such as asthma, Parkinson’s disease, and others, not forgetting about the negative effects of excess caffeine (e.g., in people with hypertension, children, adolescents, and the elderly). In summary, we can conclude, however, that caffeine has a multi-directional influence on various organs of the human body, and because of its anti-oxidative properties, it was, and still is, an interesting topic for research studies including those aimed at developing new therapeutic strategies.

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“…Thus, a dosage of caffeine consumption might be relevant [ 39 ]. Because various disease patterns and variances in age of onset (AO) are known in HD postulating that approximately 60% of the AO variance is not explainable due to the CAG-load in the HD mutation, there is an urgent need to identify modulating pharmacological or lifestyle-based effects such as caffeine-consumption [ 40 ]. The conundrum of positive effects in other neurodegenerative diseases, positive effects in HD animal models on molecular mechanisms and recent investigations describing hints with earlier HD onsets in humans have huge implications for affected patients because coffee consumption is widely common and easily influenceable.…”

Section: Introductionmentioning

confidence: 99%

Divergent Effects of the Nonselective Adenosine Receptor Antagonist Caffeine in Pre-Manifest and Motor-Manifest Huntington’s Disease

et al. 2022

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There is a controversy about potentially positive or negative effects of caffeine consumption on onset and disease progression of neurodegenerative diseases such as Huntington’s Disease (HD). On the molecular level, the psychoactive drug caffeine targets in particular adenosine receptors (AR) as a nonselective antagonist. The aim of this study was to evaluate clinical effects of caffeine consumption in patients suffering from premanifest and motor-manifest HD. Data of the global observational study ENROLL-HD were used, in order to analyze the course of HD regarding symptoms onset, motor, functional, cognitive and psychiatric parameters, using cross-sectional and longitudinal data of up to three years. We split premanifest and manifest participants into two subgroups: consumers of >3 cups of caffeine (coffee, cola or black tea) per day (>375 mL) vs. subjects without caffeine consumption. Data were analyzed using ANCOVA-analyses for cross-sectional and repeated measures analysis of variance for longitudinal parameters in IBM SPSS Statistics V.28. Within n = 21,045 participants, we identified n = 1901 premanifest and n = 4072 manifest HD patients consuming >3 cups of caffeine/day vs. n = 841 premanifest and n = 2243 manifest subjects without consumption. Manifest HD patients consuming >3 cups exhibited a significantly better performance in a series of neuropsychological tests. They also showed at the median a later onset of symptoms (all p < 0.001), and, during follow-up, less motor, functional and cognitive impairments in the majority of tests (all p < 0.050). In contrast, there were no beneficial caffeine-related effects on neuropsychological performance in premanifest HD mutation carriers. They showed even worse cognitive performances in stroop color naming (SCNT) and stroop color reading (SWRT) tests (all p < 0.050) and revealed more anxiety, depression and irritability subscores in comparison to premanifest participants without caffeine consumption. Similarly, higher self-reported anxiety and irritability were observed in genotype negative/control group high dose caffeine drinkers, associated with a slightly better performance in some cognitive tasks (all p < 0.050). The analysis of the impact of caffeine consumption in the largest real-world cohort of HD mutation carriers revealed beneficial effects on neuropsychological performance as well as manifestation and course of disease in manifest HD patients while premanifest HD mutation carrier showed no neuropsychological improvements, but worse cognitive performances in some tasks and exhibited more severe signs of psychiatric impairment. Our data point to state-related psychomotor-stimulant effects of caffeine in HD that might be related to regulatory effects at cerebral adenosine receptors. Further studies are required to validate findings, exclude potential other unknown biasing factors such as physical activity, pharmacological interventions, gender differences or chronic habitual influences and test for dosage related effects.

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Selected health and lifestyle factors, cytosine‐adenine‐guanine status, and phenoconversion in Huntington's disease

Abstract: Huntington's disease onset was earlier among consumers of caffeinated soda, but not other caffeinated beverages. This finding may be spurious or not related to caffeine. © 2018 International Parkinson and Movement Disorder Society.

Cited by 25 publications

References 24 publications

Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines

Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines

Caffeine as a Factor Influencing the Functioning of the Human Body—Friend or Foe?

Divergent Effects of the Nonselective Adenosine Receptor Antagonist Caffeine in Pre-Manifest and Motor-Manifest Huntington’s Disease

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