Publications by authors named "J-C Corvol"
Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous neurodevelopmental condition serving as an illustrative paradigm of childhood-onset dystonias, associated with psychiatric symptoms.
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- The study explores myoclonus dystonia caused by a variant in the SGCE gene, focusing on the microarchitectural brain abnormalities linked to this rare condition.
- Researchers compared the brain structures of 18 MYC/DYT-SGCE patients with 24 healthy volunteers using advanced imaging techniques to assess neurite organization.
- Results indicate that patients exhibited changes in cerebellar structure, with specific alterations correlating to the severity of dystonia, while no links were found between myoclonus severity and the microarchitectural measurements.
Article Synopsis
- The study investigates the relationship between body mass index (BMI) and Parkinson's disease (PD) using a method called Mendelian randomization to determine if higher genetically predicted BMI is linked to a lower incidence of PD.
- Researchers analyzed genetic data from large groups of individuals, including over 800,000 for BMI and nearly 29,000 for PD, focusing on factors like age, disease duration, and gender to examine the associations.
- Results indicated an inverse relationship between genetically predicted BMI and PD, particularly among younger participants and women, suggesting that lower BMI may be associated with a higher risk of developing Parkinson's disease.
Development and validation of the DBS-PS (Deep Brain Stimulation-Perception Scale): Assessing parkinsonian patients' expectations to prevent post-operative disappointment?
J Neurol Sci
July 2024
Article Synopsis
- Recent studies indicate that understanding the preoperative expectations of Parkinson's disease patients undergoing deep brain stimulation (DBS) can enhance treatment outcomes, but there are limited validated tools to measure these expectations.
- The DBS-PS (Deep Brain Stimulation - Perception Scale) was developed as an 11-item self-administered questionnaire, divided into three domains: expectations for PD, social-life and leisure, and intimate life, and validated through exploratory factor analysis and item response theory.
- The study showed that the DBS-PS has good reliability and validity, making it a practical tool for assessing patient expectations in clinical practice, which may help in cognitive restructuring before surgery.
Article Synopsis
- This study investigates the non-motor aspects of myoclonus dystonia, focusing on the sense of agency, which is how individuals perceive control over their actions, and how disruptions in this sense can affect movement disorders.* -
- The research compared 19 patients with myoclonus dystonia (stemming from a specific genetic variant) to 24 healthy participants, revealing that the patients had a significant impairment in their explicit sense of agency, while their implicit sense remained unaffected.* -
- Neuroimaging analyses showed structural and functional abnormalities in the cerebellum and its connectivity with the pre-supplementary motor area, suggesting these brain regions play a crucial role in the altered sense of agency in patients with my
Background: Lixisenatide, a glucagon-like peptide-1 receptor agonist used for the treatment of diabetes, has shown neuroprotective properties in a mouse model of Parkinson's disease.
Methods: In this phase 2, double-blind, randomized, placebo-controlled trial, we assessed the effect of lixisenatide on the progression of motor disability in persons with Parkinson's disease. Participants in whom Parkinson's disease was diagnosed less than 3 years earlier, who were receiving a stable dose of medications to treat symptoms, and who did not have motor complications were randomly assigned in a 1:1 ratio to daily subcutaneous lixisenatide or placebo for 12 months, followed by a 2-month washout period.
Article Synopsis
- Local injections of botulinum toxin type A were tested in a randomized trial to see if they could effectively treat essential head tremor, with participants receiving either the toxin or a placebo.
- The results showed that 31% of patients treated with botulinum toxin experienced significant improvement in their tremors compared to only 9% in the placebo group, indicating a strong positive effect of the treatment.
- However, about half of the patients who received botulinum toxin reported side effects, including neck pain and weakness, highlighting the need for caution despite the treatment's effectiveness.
Background: Exergaming has been proposed to improve gait and balance disorders in Parkinson's disease (PD) patients. We aimed to assess the efficacy of a home-based, tailored, exergaming training system designed for PD patients with dopa-resistant gait and/or balance disorders in a controlled randomized trial.
Methods: We recruited PD patients with dopa-resistant gait and/or balance disorders.
Background And Objectives: The genetic basis of Parkinson disease (PD) motor progression is largely unknown. Previous studies of the genetics of PD progression have included small cohorts and shown a limited overlap with genetic PD risk factors from case-control studies. Here, we have studied genomic variation associated with PD motor severity and early-stage progression in large longitudinal cohorts to help to define the biology of PD progression and potential new drug targets.
View Article and Find Full Text PDFBody-worn sensors (BWS) could provide valuable information in the management of Parkinson's disease and support therapeutic decisions based on objective monitoring. To study this pivotal step and better understand how relevant information is extracted from BWS results and translated into treatment adaptation, eight neurologists examined eight virtual cases composed of basic patient profiles and their BWS monitoring results. Sixty-four interpretations of monitoring results and the subsequent therapeutic decisions were collected.
View Article and Find Full Text PDFBackground: Iron content is increased in the substantia nigra of persons with Parkinson's disease and may contribute to the pathophysiology of the disorder. Early research suggests that the iron chelator deferiprone can reduce nigrostriatal iron content in persons with Parkinson's disease, but its effects on disease progression are unclear.
Methods: We conducted a multicenter, phase 2, randomized, double-blind trial involving participants with newly diagnosed Parkinson's disease who had never received levodopa.
Parkinson's disease is one of the most common age-related neurodegenerative disorders. Although predominantly a motor disorder, cognitive impairment and dementia are important features of Parkinson's disease, particularly in the later stages of the disease. However, the rate of cognitive decline varies among Parkinson's disease patients, and the genetic basis for this heterogeneity is incompletely understood.
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- Mitochondria play a role in Parkinson's disease, particularly in cognitive decline, but their impact on the disease's progression is still not fully understood.
- A study involving 4,064 Parkinson's patients found that certain mitochondrial haplogroups, specifically the super macro-haplogroup J, T, U, were linked to a 41% lower risk of cognitive decline compared to the H haplogroup.
- The research also identified a specific mitochondrial DNA variant (m.2706A>G) that slowed cognitive decline, while no significant relationship was found between mitochondrial haplogroups and motor progression.
Relationship between Substantia Nigra Neuromelanin Imaging and Dual Alpha-Synuclein Labeling of Labial Minor in Salivary Glands in Isolated Rapid Eye Movement Sleep Behavior Disorder and Parkinson's Disease.
Genes (Basel)
September 2022
We investigated the presence of misfolded alpha-Synuclein (α-Syn) in minor salivary gland biopsies in relation to substantia nigra pars compacta (SNc) damage measured using magnetic resonance imaging in patients with isolated rapid eye movement sleep behavior disorder (iRBD) and Parkinson's disease (PD) as compared to healthy controls. Sixty-one participants (27 PD, 16 iRBD, and 18 controls) underwent a minor salivary gland biopsy and were scanned using a 3 Tesla MRI. Deposits of α-Syn were found in 15 (55.
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- - This study investigates the genetic factors influencing the age at onset (AAO) of Parkinson's disease (PD), aiming to address the inconsistencies in previous research and validate findings through a meta-analysis of diverse populations.
- - The meta-analysis combined data from the COURAGE-PD Consortium, which included over 8,500 patients primarily of European origin, and the International Parkinson Disease Genomics Consortium, reaching a total of nearly 26,000 participants.
- - The research confirmed a known genetic variant associated with PD AAO and discovered two genome-wide significant signals on chromosome 4, contributing new insights into the genetic basis of the disease's onset.
Background And Objectives: To determine whether patients with Parkinson disease (PD) eligible for subthalamic nucleus deep brain stimulation (STN-DBS) with probable REM sleep behavior disorder (RBD) preoperatively could be more at risk of poorer motor, nonmotor, and quality of life outcomes 12 months after surgery compared to those without RBD.
Methods: We analyzed the preoperative clinical profile of 448 patients with PD from a French multicentric prospective study (PREDISTIM) according to the presence or absence of probable RBD based on the RBD Single Question and RBD Screening Questionnaire. Among the 215 patients with PD with 12 months of follow-up after STN-DBS, we compared motor, cognitive, psycho-behavioral profile, and quality of life outcomes in patients with (pre-opRBD+) or without (pre-opRBD-) probable RBD preoperatively.
Objective: Decreased amyloid beta (Aβ) 42 together with increased tau and phospho-tau in cerebrospinal fluid (CSF) is indicative of Alzheimer's disease (AD). However, the molecular pathophysiology underlying the slowly progressive cognitive decline observed in AD is not fully understood and it is not known what other CSF biomarkers may be altered in early disease stages.
Methods: We utilized an antibody-based suspension bead array to analyze levels of 216 proteins in CSF from AD patients, patients with mild cognitive impairment (MCI), and controls from two independent cohorts collected within the AETIONOMY consortium.
Background This study provides a detailed imaging assessment in a large series of patients infected with coronavirus disease 2019 (COVID-19) and presenting with neurologic manifestations. Purpose To review the MRI findings associated with acute neurologic manifestations in patients with COVID-19. Materials and Methods This was a cross-sectional study conducted between March 23 and May 7, 2020, at the Pitié-Salpêtrière Hospital, a reference center for COVID-19 in the Paris area.
View Article and Find Full Text PDFBackground and Purpose- Many studies have attempted to bring to light the neural correlates of poststroke motor impairment, but few have used multimodal approach to explain it. The aim of this study was to elucidate neural structural and functional correlates of upper limb motor impairment by combining electrophysiological, anatomic, and functional neuroimaging data. Methods- Forty ischemic stroke patients (median [min-max] age: 63 [33-82] years, time poststroke: 3.
View Article and Find Full Text PDFObjective: To determine if any association between previously identified alleles that confer risk for Parkinson disease and variables measuring disease progression.
Methods: We evaluated the association between 31 risk variants and variables measuring disease progression. A total of 23,423 visits by 4,307 patients of European ancestry from 13 longitudinal cohorts in Europe, North America, and Australia were analyzed.
Therapeutic and pharmacologic perspectives in parkinson's disease. Despite the dopaminergic therapy which improves motor symptoms, there are still a lot of challenges to be fulfilled in Parkinson's disease. Dopamine replacement therapy is hampered by motor complications, has no efficacy on non-motor symptoms, and is not neuroprotective so does not change disease progression.
View Article and Find Full Text PDFObjective: To investigate the longitudinal dose-effect relationship between dopamine replacement therapy and impulse control disorders (ICDs) in Parkinson disease (PD).
Methods: We used data from a multicenter longitudinal cohort of consecutive patients with PD with ≤5 years' disease duration at baseline followed up annually up to 5 years. ICDs were evaluated during face-to-face semistructured interviews with movement disorder specialists.
Objective: To examine whether gene expression analysis of a large-scale Parkinson disease (PD) patient cohort produces a robust blood-based PD gene signature compared to previous studies that have used relatively small cohorts (≤220 samples).
Methods: Whole-blood gene expression profiles were collected from a total of 523 individuals. After preprocessing, the data contained 486 gene profiles (n = 205 PD, n = 233 controls, n = 48 other neurodegenerative diseases) that were partitioned into training, validation, and independent test cohorts to identify and validate a gene signature.
Objective: To evaluate the efficacy and safety of zonisamide in patients with myoclonus-dystonia.
Methods: We conducted a randomized, double-blind, placebo-controlled crossover trial of zonisamide (300 mg/d) in 24 patients with myoclonus-dystonia. Each treatment period consisted of a 6-week titration phase followed by a 3-week fixed-dose phase.
Objective: The AMANDYSK trial was designed to assess long-term efficacy of chronic treatment with amantadine in patients with Parkinson disease (PD) and levodopa-induced dyskinesia (LID).
Methods: This was a 3-month, multicenter, randomized, double-blind, placebo-controlled, parallel-group, wash-out study conducted in 57 amantadine-treated (≥200 mg/d for ≥6 months) dyskinetic patients with PD. The primary outcome measure was the change from baseline in a Unified Parkinson's Disease Rating Scale (UPDRS) dyskinesia subscore (items 32 [duration] + 33 [severity]).