Publications by authors named "Bachoud-Levi A"
The prevalent belief that individuals with Huntington's disease exhibit selfish behaviour, disregarding the thoughts, feelings and actions of others, has been challenged by patient organizations and clinical experts. To further investigate this issue and study whether participants with Huntington's disease can pay attention to others, a joint memory task was carried out in patients with Huntington's disease with and without a partner. This study involved 69 participants at an early stage of Huntington's disease and 56 healthy controls from the UK, France and Germany, who participated in the international Repair-HD multicentre study (NCT03119246).
View Article and Find Full Text PDFBackground: NKX2-1-related disorder (NKX2-1-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea.
Objective: This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists.
Methods: The ERN-RND Chorea & Huntington disease group designed a survey to conduct a cross-sectional multicenter study on the management of NKX2-1-RD.
Cognitive reserve is the ability to actively cope with brain deterioration and delay cognitive decline in neurodegenerative diseases. It operates by optimizing performance through differential recruitment of brain networks or alternative cognitive strategies. We investigated cognitive reserve using Huntington's disease (HD) as a genetic model of neurodegeneration to compare premanifest HD, manifest HD, and controls.
View Article and Find Full Text PDFObjective: Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric symptoms. Our aim here was to identify factors that can be modified to slow disease progression even before the first symptoms appear.
Methods: We included 2636 presymptomatic individuals (comparison with family controls) drawn from the prospective observational cohort Enroll-HD, with more than 35 CAG repeats and at least two assessments of disease progression measured with the composite Huntington's disease rating Scale (cUHDRS).
Article Synopsis
- Huntington's Disease (HD) is a genetic neurodegenerative disorder affecting cognitive abilities, particularly spatial skills, and the authors aimed to assess these spatial deficits using language as a diagnostic tool.
- They developed a Spatial Description Model to evaluate patients' descriptions of spatial relations while performing the Cookie Theft Picture task, involving 78 individuals with HD and 25 healthy controls.
- Results showed that manifest HD patients displayed fewer spatial relations in their speech compared to healthy individuals, suggesting that language can effectively assess spatial disturbances in HD, potentially allowing for remote clinical evaluations.
Background: Dementia is defined as a cognitive decline that affects functional status. Longitudinal ageing surveys often lack a clinical diagnosis of dementia though measure cognition and daily function over time. We used unsupervised machine learning and longitudinal data to identify transition to probable dementia.
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- NKX2-1-related disorders (NKX2-1-RD) are rare conditions marked by involuntary movements, respiratory issues, and hormonal imbalances, prompting a review to find effective drug treatments for chorea associated with the disorder.
- The systematic review analyzed 1417 studies, ultimately focusing on 28 studies involving 68 patients, and found various treatments but noted no improvement with commonly used medications like carbidopa/levodopa and tetrabenazine.
- Despite low-quality evidence, methylphenidate showed promise in improving chorea symptoms with minimal side effects, highlighting the need for more rigorous research for clear clinical guidelines.
Article Synopsis
- The study explored the role of the striatum in language processing, particularly in patients with Huntington's disease, which primarily affects this brain region and leads to language difficulties.
- By comparing carriers of HD mutations and controls on linguistic and non-linguistic discrimination tasks, researchers used the hierarchical drift diffusion model to analyze decision-making and non-decision parameters related to language performance.
- Findings indicated that decision-making impairments, rather than core language processing deficits, are the primary contributors to language impairment in patients with striatal atrophy, as shown by correlations between decision parameters and gray matter volume in specific brain areas.
Cognitive deficits represent a hallmark of neurodegenerative diseases, but evaluating their progression is complex. Most current evaluations involve lengthy paper-and-pencil tasks which are subject to learning effects dependent on the mode of response (motor or verbal), the countries' language or the examiners. To address these limitations, we hypothesized that applying neuroscience principles may offer a fruitful alternative.
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- A study used machine learning to analyze cognitive and functional data from over 15,000 participants aged 50+ across several waves of the Survey of Health, Ageing, and Retirement in Europe (SHARE) to identify transitions to probable dementia.* -
- Findings showed the algorithm detected more cases of probable dementia than self-reports, particularly among older adults, with a higher incidence in females and strong associations with various risk factors like low education and health issues.* -
- The research suggests that machine learning can effectively identify dementia risk in large population studies that do not have clinical diagnoses, highlighting the utility of such methods in understanding dementia-related outcomes.*
Background: NKX2-1-related disorders have a prevalence of 1:500,000 and are therefore considered a rare condition according to the European Commission's definition. The European Reference Network of Rare Neurological Disorders is developing the first clinical practice guideline on the management of this condition, with the support of the Andalusian Health Technology Assessment Area, Endo-ERN, ERN-Lung and Imegen, within the framework of the ERNs Guidelines programme (DG SANTE/2018/B3/030). Within the scope of this programme, it becomes necessary to explore the patient perspective in order to include it in the ongoing clinical practice guideline and accompanying patient information booklet.
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- The striatum plays a key role in processing time, and patients with Huntington's disease show deficits in time perception and production, particularly in interval timing tasks.
- A study found that symptomatic Huntington's disease patients struggled with producing time durations between 4 and 10 seconds, while presymptomatic gene carriers performed similarly to healthy controls.
- Results linked performance to grey matter volume in the amygdala and caudate, confirming the striatum's involvement in both time perception and production, and indicating that a simple temporal production task could help identify early signs of striatal degeneration in Huntington's disease, though its efficacy for presymptomatic detection remains uncertain.
Background: Disease-modifying treatments for Huntington's disease (HD) are entering clinical trials: there is a pressing need for objective outcome measures of disease progression. Our previous work showed an association between 2 novel, objective cognitive tasks and apathy - a core feature of disease progression in HD.
Objective: Evaluate the longitudinal validity and sensitivity of the novel Persistence and Maze tasks to assess their utility as clinical outcome measures in HD.
Background: High consumption of Annona muricata fruit has been previously identified as a risk factor for atypical parkinsonism in the French Caribbean islands.
Objective: We tested whether consumption of Annonaceae products could worsen the clinical phenotype of patients with any form of degenerative parkinsonism.
Methods: We analyzed neurological data from 180 Caribbean parkinsonian patients and specifically looked for dose effects of lifelong, cumulative Annonaceae consumption on cognitive performance.
Background: Caregiver burden is widely recognized in Huntington's disease, but little is known about the factors determining its evolution over time in the absence of longitudinal studies. Our objective was to identify typical patterns of caregiver burden level and evolution using both patients' and caregivers' characteristics over a one-year period to identify potential levers for alleviation.
Methods: We conducted a prospective multicenter longitudinal study in caregiver/patient pairs in Huntington's disease (NCT02876445) between March 2011 and May 2015.
Background: Because of the genetic transmission of Huntington's disease (HD), informal caregivers (ICs, i.e., non-professional caregivers) might experience consecutive and/or concurrent caregiving roles to support several symptomatic relatives with HD over their life.
View Article and Find Full Text PDFPatients with Huntington's disease suffer from disturbances in the perception of emotions; they do not correctly read the body, vocal and facial expressions of others. With regard to the expression of emotions, it has been shown that they are impaired in expressing emotions through face but up until now, little research has been conducted about their ability to express emotions through spoken language. To better understand emotion production in both voice and language in Huntington's Disease (HD), we tested 115 individuals: 68 patients (HD), 22 participants carrying the mutant HD gene without any motor symptoms (pre-manifest HD), and 25 controls in a single-centre prospective observational follow-up study.
View Article and Find Full Text PDFObjectives: Using brief samples of speech recordings, we aimed at predicting, through machine learning, the clinical performance in Huntington's Disease (HD), an inherited Neurodegenerative disease (NDD).
Methods: We collected and analyzed 126 samples of audio recordings of both forward and backward counting from 103 Huntington's disease gene carriers [87 manifest and 16 premanifest; mean age 50.6 (SD 11.
Huntington's disease is a rare, severe, and inherited neurodegenerative disorder that affects young adults. To date, there is no treatment to stop its progression. The primary atrophy of the striatum in HD, is limited in space and centrally focalised in the brain and thus constitutes a good candidate for graft.
View Article and Find Full Text PDFOne percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge.
View Article and Find Full Text PDFHuntington's Disease (HD) is an inherited neurodegenerative disease characterized by a combination of motor, cognitive, and behavioral disorders. The social and behavioral symptoms observed in HD patients impact their quality of life and probably explain their relational difficulties, conflicts, and social withdrawal. In this study, we described the development of the Social Relationship Self-Questionnaire (SRSQ), a self-reporting questionnaire that assesses how HD patients perceived their social relationships.
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- Huntington's disease (HD) is a rare and complex neurodegenerative disorder, and its treatment primarily involves off-label medications due to a lack of effective therapies.
- A task force reviewed available treatments and identified 22 studies, which highlighted potential benefits of deutetrabenazine and tetrabenazine for managing certain motor symptoms, but not for modifying the disease or addressing other mental health issues.
- Ultimately, the findings suggest that while some interventions may help with specific symptoms, there is a significant lack of evidence for comprehensive treatment options in HD.