Publications by authors named "Fluchere F"

Article Synopsis
  • The announcement of Parkinson's disease (PD) diagnosis often leads to negative emotions for patients, impacting their coping strategies and overall adjustment to the condition.
  • A national French survey involving 397 recent PwPD, along with their caregivers and healthcare professionals, found that 60% of patients were not expecting their diagnosis and 82% experienced negative feelings, particularly influenced by male gender and older age.
  • There is a significant need for improved communication and support during the diagnosis process, as many PwPD and caregivers felt they lacked sufficient information and expressed a desire for multidisciplinary follow-up.
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Background: Among the different types of pain related to Parkinson's disease (PD), parkinsonian central pain (PCP) is the most disabling.

Objectives: We investigated the analgesic efficacy of two therapeutic strategies (opioid with oxycodone- prolonged-release (PR) and higher dose of levodopa/benserazide) compared with placebo in patients with PCP.

Methods: OXYDOPA was a randomized, double-blind, double-dummy, placebo-controlled, multicenter parallel-group trial run at 15 centers within the French NS-Park network.

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Background: Phenotypes of CANVAS are increasingly diversified, including bradykinesia and dysautonomia, so that its primary differential diagnoses are multiple system atrophy-cerebellar type (MSA-c), and spinocerebellar ataxia type 3 (SCA3). This case series aims to highlight key molecular imaging findings in CANVAS.

Cases: We report a case series of six patients with CANVAS who underwent nuclear medicine examinations in our center and 13 patients from the literature.

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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.
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Article Synopsis
  • Two scales, QUEST and ETEA, have been created to evaluate how tremors affect daily life, and they have been translated and validated in French.
  • The study involved 117 patients with head tremors and the French versions demonstrated excellent acceptability, high internal consistency, and strong reproducibility.
  • Overall, the French QUEST and ETEA scales are effective tools for assessing the impact of head tremors on patients' lives.
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GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and whether they might represent relevant fluid-based biomarkers in GRN-related diseases. We analyzed four lysoSPL levels in plasmas of 131 GRN carriers and 142 non-carriers, including healthy controls and patients with frontotemporal dementias (FTD) carrying a C9orf72 expansion or without any mutation.

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Background: Wilson's disease (WD) is usually diagnosed in children and young adults; limited data exist on late-onset forms.

Objective: The aim was to characterize the clinical and paraclinical presentations, therapeutic management, and outcomes in patients with late-onset WD.

Methods: Patients diagnosed with WD after age 40 years were identified from the French Wilson's Disease Registry (FWDR).

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Background: Parkinson's disease mild cognitive impairment (PD-MCI) is frequent and heterogenous. There is no consensus about its influence on subthalamic deep brain stimulation (STN-DBS) outcomes.

Objective: To determine the prevalence of PD-MCI and its subtypes in candidates to STN-DBS.

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Context: Parkinson disease is a neurodegenerative disorder characterized by motor and non-motor symptoms. Symptomatic treatment is based on dopaminergic medications. In case of self-medication practices, there may be drug-drug interactions between over-the-counter medication and dopaminergic medications.

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This study compares two methods to quantify the amplitude and frequency of head movements in patients with head tremor: one based on video-based motion analysis, and the other using a miniature wireless inertial magnetic motion unit (IMMU). Concomitant with the clinical assessment of head tremor severity, head linear displacements in the frontal plane and head angular displacements in three dimensions were obtained simultaneously in forty-nine patients using one video camera and an IMMU in three experimental conditions while sitting (at rest, counting backward, and with arms extended). Head tremor amplitude was quantified along/around each axis, and head tremor frequency was analyzed in the frequency and time-frequency domains.

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Article Synopsis
  • The study compares the effects of Levodopa (L) and subthalamic deep brain stimulation (STN-DBS) on cost-valuation in Parkinson's disease, specifically focusing on axial movements (vowel production) versus distal movements (hand squeezing).
  • Results indicate that STN-DBS makes vowel production easier while it complicates performance when combined with L.
  • The findings suggest that treatment effects on axial and distal movements can differ significantly, impacting patients' quality of life and impulsivity assessments.
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Purpose: The aim of this [F]-FDG PET study was to determine the diagnostic value of the cortex/striatum metabolic ratio in a large cohort of patients suffering from autoimmune encephalitis (AE) and to search for correlations with the course of the disease.

Methods: We retrospectively collected clinical and paraclinical data of patients with AE, including brain F-FDG PET/CT. Whole-brain statistical analysis was performed using SPM8 software after activity parametrization to the striatum in comparison to healthy subjects.

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Background: In 2020 the coronavirus disease 19 (COVID-19) pandemic imposed a total and sudden lockdown. We aimed to investigate the consequences of the first COVID-19 lockdown (mid-March - mid-April 2020) on motor and non-motor symptoms (NMS) in a cohort of French people with Parkinson's disease (PwP).

Methods: PwP were enrolled either by an on-line survey sent from the national France Parkinson association (FP) to reach the French community of PwP or as part of outpatients' telemedicine visits followed by an hospital-based Parkinson Expert Center (PEC).

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Article Synopsis
  • - The study aimed to improve the diagnosis of inherited ataxia and related disorders through molecular sequencing, given the complexity and variety of symptoms associated with these diseases.
  • - Researchers analyzed 366 patients with undiagnosed ataxia using clinical exome-capture sequencing and established a molecular diagnosis in 46% of cases, uncovering previously unrecognized variants.
  • - They highlighted that many patients presented with milder symptoms due to unique genetic variations like hypomorphic variants and specific mechanisms such as C-terminal truncations, identifying PEX10 and FASTKD2 as genes involved in these mild disease presentations.
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Objective: We aim to search for predictors of survival among clinical and brain F-FDG positron emission tomography (PET) metabolic features in our cohort of patients with multiple system atrophy (MSA).

Methods: We included patients with a 'probable' MSA diagnosis for whom a clinical evaluation and a brain PET were performed early in the course of the disease (median 3 years, IQR 2-5). A retrospective analysis was conducted using standardised data collection.

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Levodopa (L-dopa) remains the basis of pharmacological treatment of Parkinson's disease (PD). However, L-dopa therapy is associated with the development of complications and presents major challenges in the long-term treatment. Thus, other medications may be suggested to delay and/or reduce the doses of L-dopa in order to prevent complications.

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Introduction: Multiple system atrophy (MSA) is a neurodegenerative disorder in which vocal fold mobility can be affected, sometimes leading to life-threatening situations. Our aim was to know if laryngeal examination could help differentiate MSA from Parkinson's disease (PD).

Materials And Methods: Between 2004 to 2014, all consecutive patients diagnosed with probable MSA were included in this retrospective, monocentric study.

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Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age. This is a rare condition, previously reported in only four families. In contrast, heterozygous GRN mutations are a major cause of frontotemporal dementia associated with neuronal cytoplasmic TDP-43 inclusions.

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Objective: The 2008 diagnostic criteria classify Multiple System Atrophy (MSA) patients in a predominantly parkinsonian (MSA-P) or cerebellar (MSA-C) type. Phenotypic descriptions have since highlighted a clinical heterogeneity among patients (e.g.

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Background: Parkinson's disease (PD) is frequently associated with behavioral disorders, particularly within the spectrum of motivated behaviors such as apathy or impulsivity. Both pharmacological and neurosurgical treatments have an impact on these impairments. However, there still is controversy as to whether subthalamic nucleus deep brain stimulation (STN-DBS) can cause or reduce impulsive behaviors.

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Background: Deep brain stimulation of the subthalamic nucleus (STN DBS) is known to increase response speed and lower response accuracy in Parkinson's disease (PD) patients. It has been proposed that this speed-accuracy tradeoff is due to enhanced sensitivity of the motor system to sensory information. An alternative possibility is that this effect is due to weakened suppressive processes.

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Article Synopsis
  • This study focused on the effects of incobotulinum toxin A (Xeomin) for treating painful toe dystonia in parkinsonian patients, using a randomized and placebo-controlled trial.
  • A total of 45 patients received injections either with Xeomin or a placebo in two specific toe muscles and were compared based on their improvement in symptoms.
  • Results showed that while there was improvement in the clinical states and pain for those receiving Xeomin, there was no significant difference compared to the placebo group specifically.
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Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis. Using exome data from a large sample of 522 EOAD cases and 584 controls to search for genomic copy-number variations (CNVs), we report here a novel partial, in-frame deletion of PSEN1, removing both exons 9 and 10.

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Background And Purpose: The severity of Wilson's disease (WD) is linked to free copper accumulating in the liver and brain. Exchangeable copper (CuEXC) is a new technique to determine plasmatic copper and is useful in the diagnosis of WD. It is hypothesized that it may also enable a good evaluation of extra-hepatic involvement and its severity.

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