One decade ago, one decade ahead in huntington's disease

Wild, Edward J.; Tabrizi, Sarah J.

doi:10.1002/mds.27849

Cited by 8 publications

(4 citation statements)

References 48 publications

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“…The automatic identification of pre-symptomatic carriers of the gene of Huntington's Disease and the prediction of the clinical scores are of particular interest for the neurological practice [3]. Indeed, having ecological markers of these clinical endpoints may: (1) help to prevent detrimental and harmful life events, (2) speed-up clinical trials, (3) increase the understanding of the disease in ground truth condition.…”

Section: Introductionmentioning

confidence: 99%

Vocal Markers from Sustained Phonation in Huntington’s Disease

Riad¹,

Titeux²,

Montillot³

et al. 2020

Interspeech 2020

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Disease-modifying treatments are currently assessed in neurodegenerative diseases. Huntington's Disease represents a unique opportunity to design automatic sub-clinical markers, even in premanifest gene carriers. We investigated phonatory impairments as potential clinical markers and propose them for both diagnosis and gene carriers follow-up. We used two sets of features: Phonatory features and Modulation Power Spectrum Features. We found that phonation is not sufficient for the identification of sub-clinical disorders of premanifest gene carriers. According to our regression results, Phonatory features are suitable for the predictions of clinical performance in Huntington's Disease.

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Section: Introductionmentioning

confidence: 99%

Vocal Markers from Sustained Phonation in Huntington’s Disease

Riad¹,

Titeux²,

Montillot³

et al. 2020

Interspeech 2020

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“…Huntington's disease (HD) and X‐linked dystonia parkinsonism (XDP) are two monogenic, neurodegenerative movement disorders with an origin in the striatum 1,2 . Both conditions also share clinical features (chorea and dystonia) and the involvement of a repeat expansion in the disease mechanism.…”

Section: Figmentioning

confidence: 99%

Linking Huntington's Disease and X‐linked Dystonia Parkinsonism on the Molecular Level

Diaw

Lohmann

2020

Movement Disorders

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“…Although there are manifold recent and promising therapeutic approaches such as gene therapies, mRNA modulating targets using antisense oligonucleotides or small molecules, until now, no disease modifying or causal therapy is available [ 6 , 7 , 8 , 9 ]. Lacking causative treatment options, commonly used symptomatic pharmacological treatments or lifestyle-based effects were analyzed with regard to potential influences on disease manifestation and progression of HD [ 10 , 11 ].…”

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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One decade ago, one decade ahead in huntington's disease

Cited by 8 publications

References 48 publications

Vocal Markers from Sustained Phonation in Huntington’s Disease

Vocal Markers from Sustained Phonation in Huntington’s Disease

Linking Huntington's Disease and X‐linked Dystonia Parkinsonism on the Molecular Level

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

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