Publications by authors named "Lefaucheur R"

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.

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Objective: To determine whether adult cases of Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) may be related to familial hemophagocytic lymphohistiocytosis (HLH) causes, we have screened patients with adult-onset CLIPPERS for mutations in primary HLH-associated genes.

Methods: In our cohort of 36 patients fulfilling the criteria for probable or definite CLIPPERS according to the CLIPPERS-2017 criteria, we conducted a first study on 12 patients who consented to genetic testing. In these 12 patients, systemic HLH criteria were searched, and genetic analysis of 8 genes involved in primary HLH was performed.

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Objectives: Nucleus basalis of Meynert deep brain stimulation (NBM-DBS) has been proposed for patients with dementia. Here, we aim to assess the safety and effects of NBM-DBS in patients with Lewy body dementia (LBD), in a randomized, double-blind, crossover clinical trial.

Methods: Six patients with mild to moderate LBD (mean [SD] age, 62.

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Background/objective: Occurrence of post-dural puncture headache (PDPH) after diagnostic lumbar puncture (LP) for idiopathic intracranial hypertension (IIH) may seem very unlikely in clinical practice. Nevertheless, it has been suggested by several studies, mainly in sub-group analyses. We aimed to evaluate the prevalence of PDPH in an IIH population and determine any eventual predictive factors of PDPH occurrence.

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Fibrocartilaginous embolism (FCE) is a rare and probably under diagnosed cause of spinal cord infarction presumably due to acute embolization of nucleus pulposus fragments into the spinal circulation. Concomitant cerebral involvement is much rarer and often asymptomatic. Although the definitive diagnosis is histologic, certain criteria have been proposed to support the diagnosis in living patients, such as absence of vascular risk factors, acute onset or antecedent of valsalva maneuver before the episode and the exclusion of potential differential diagnoses.

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Lyme disease is an infectious disease caused by the Borrelia burgdorferi spirochetes and other related species that are transmitted through an infected tick bite. We report the case of an older patient presenting with bilateral facial palsy due to Lyme disease. Multiple non-specific clinical signs preceded facial palsy with falls, fatigue and pain of both legs especially during the night.

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Article Synopsis
  • A study investigated the effectiveness of Whole Exome Sequencing (WES) to identify genetic causes in patients with early-onset or familial dystonia, where traditional gene panel sequencing had low diagnostic rates.
  • The research involved 32 patients and found that WES identified causative genetic variants in 11 patients from 9 families, resulting in a 34.4% overall diagnostic rate, with higher success in complex dystonia cases.
  • The findings indicate that WES could significantly enhance diagnostic capabilities beyond gene panel sequencing, particularly for patients with associated intellectual disabilities, suggesting further research is needed to explore links between dystonia and other neurodevelopmental disorders.
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Agenesis of the internal carotid artery (ICA) is a rare congenital vascular disorder of the cerebral circulation. CT scan of the skull base disclosing complete absence of the bony carotid canal helps to differentiate an agenesis from aplasia or hypoplasia. Although most of the patients remain asymptomatic (thanks to the sufficient collateral circulation provided by the circle of Willis) cerebral infarcts, transient ischemic attacks or intracranial aneurysms have been rarely described in association with agenesis of the ICA.

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Introduction: The use of a robot-assisted technology becomes very competitive. The aim of this work was to define the accuracy of robotic assistance in deep brain stimulation surgery and to compare results with that in the literature.

Methods: We retrospectively reviewed the accuracy of lead implantation in 24 consecutive patients who had robot-assisted (ROSA, Zimmer-Biomet) surgery for the treatment of movement disorders.

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Since mid-2016, Europe has been facing a major hepatitis A epidemic, with more than 25 000 cases reported to the European CDC, in 2018. We describe herein a rare case of invasive HAV meningoencephalitis as a prodrome of the classic hepatitis, which largely explains a delay in diagnosis.

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Unlabelled: We report a case of familial trigeminal neuralgia (TN) and Charcot-Marie-Tooth disease (CMT) caused by an identified MPZ mutation with a review of previous cases described in the literature.

Background: The association of TN in CMT patients has previously been reported in a few cases. The pathophysiological link can be detailed with recent use of genetic analysis in CMT.

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Transient ischemic attacks (TIAs) typically present with easily recognizable neurological focal deficits. Symptoms such as paroxysmal involuntary movements are not usually considered to be a manifestation of TIA. We report a case with video documentation of TIA due to permanent atrial flutter presenting as acute left hemichorea.

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Background: Pathological laughter is defined as uncontrollable and inappropriate laughter unrelated to an emotion or a mood. This symptom can reveal a stroke.

Case Report: We described the case of a 57-year-old patient who presented to the emergency department 2 h after a sudden onset of left hemiparesis preceded by pathological laughter.

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Background: There is little experience with the effect of pregnancy on Parkinson disease because the number of women with Parkinson disease who are of childbearing age is small. We report four cases beginning during the postpartum period and discuss the potential contribution of different factors that may influence the occurrence of Parkinson disease in this time period.

Cases: Four women aged 29-35 years developed arm tremor, shoulder pain, dizziness, or decreased dexterity of the hand in the first few days or months after childbirth.

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Cerebral venous thrombosis (CVT) is an underdiagnosed complication of head trauma. To date, initiation of anticoagulation is still a matter of debate because of the risk of worsening traumatic hemorrhage. This report describes a case series of five patients admitted for head injury complicated by CVT.

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