Publications by authors named "Fabienne Ory-Magne"
Cerebrotendinous xanthomatosis: a literature review and case study.
Front Cardiovasc Med
December 2024
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
View Article and Find Full Text PDFBackground: Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).
Objectives: To pinpoint which clinical signs and symptoms best discriminate between FGF14 + from FGF14 - patients at symptoms' onset.
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.
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.
People with Parkinson's disease with motor fluctuations can be treated by continuous subcutaneous apomorphine infusion (CSAI) to reduce their symptoms. Nonetheless, factors are lacking to predict patients' quality-of-life amelioration after CSAI. This pilot study aimed to evaluate associations between personality dimensions and quality-of-life improvement after 6 months of CSAI.
View Article and Find Full Text PDFBackground: 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.
Amantadine use in the French prospective NS-Park cohort.
J Neural Transm (Vienna)
July 2024
Article Synopsis
- The study aimed to evaluate the use of amantadine in patients with Parkinson's disease (PD) and its effectiveness in treating levodopa-induced dyskinesia (LIDs).
- It found that 12.6% of PD patients in the French NS-Park cohort were using amantadine, primarily younger patients with more severe symptoms and higher doses of levodopa.
- The results indicated that starting amantadine led to significant improvements in LIDs and motor fluctuations among new users compared to those who had never used the drug.
Background And Objectives: The impact of subthalamic deep-brain stimulation (STN-DBS) on motor asymmetry and its influence on both motor and non-motor outcomes remain unclear. The present study aims at assessing the role of STN-DBS on motor asymmetry and how its modulation translates into benefits in motor function, activities of daily living (ADLs) and quality of life (QoL).
Methods: Postoperative motor asymmetry has been assessed on the multicentric, prospective Predictive Factors and Subthalamic Stimulation in Parkinson's Disease cohort.
Background: The long-term prognosis of impulsive compulsive disorders (ICD) remains poorly studied in Parkinson's disease (PD).
Objective: Evaluating the natural history of ICD and its impact on PD symptoms including cognition and treatment adjustments.
Materials And Methods: We assessed PD patients at baseline (BL) with (BL-ICD+) or without (BL-ICD-) ICD despite dopamine agonist (DA) exposure of > 300 mg levodopa-equivalent daily dose for > 12 months at baseline and after more than two years of follow-up.
Background: Multiple System Atrophy (MSA) dysphagia is routinely assessed by the Unified Multiple System Atrophy Rating Scale (UMSARS) part I-item 2.
Objective: To compare the UMSARS part I-item 2 with an ear/nose/throat (ENT) expert physician assessment.
Methods: We retrospectively analyzed the data of MSA patients who underwent an ENT assessment (nasofibroscopic and radioscopic exam) and an annual UMSARS assessment.
Objective: Because of its heterogeneity in clinical presentation and course, predicting autoimmune encephalitis (AIE) evolution remains challenging. Hence, our aim was to explore the correlation of several biomarkers with the clinical course of disease.
Methods: Thirty-seven cases of AIE were selected retrospectively and divided into active ( = 9), improved ( = 12) and remission ( = 16) AIE according to their disease evolution.
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).
Background: The EARLYSTIM trial demonstrated for Parkinson's disease patients with early motor complications that deep brain stimulation of the subthalamic nucleus (STN-DBS) and best medical treatment (BMT) was superior to BMT alone.
Objective: This prospective, ancillary study on EARLYSTIM compared changes in blinded speech intelligibility assessment between STN-DBS and BMT over 2 years, and secondary outcomes included non-speech oral movements (maximum phonation time [MPT], oral diadochokinesis), physician- and patient-reported assessments.
Methods: STN-DBS (n = 102) and BMT (n = 99) groups underwent assessments on/off medication at baseline and 24 months (in four conditions: on/off medication, ON/OFF stimulation-for STN-DBS).
Background: 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.
Article Synopsis
- Multiple System Atrophy (MSA) is a rare neurodegenerative disease linked with severe autonomic failure (AF), particularly affecting sweating, which may impact patient prognosis.
- The study involved 138 MSA patients, assessing sweating dysfunction through electrochemical skin conductance (ESC) alongside various clinical measures, revealing a significant correlation between abnormal ESC levels and increasing disease severity.
- Findings indicate that sweating dysfunction is common in MSA and abnormal ESC values could serve as a helpful, non-invasive marker for monitoring autonomic dysfunction over time.
Article Synopsis
- - The study focuses on evaluating personality traits in fluctuating Parkinson's disease (PD) patients using the Temperament and Character Inventory (TCI), as prior observations suggested specific temperaments in this group of patients.
- - Results showed that the PD patients had higher scores in traits like Harm Avoidance and Self-Directedness but lower in Self-Transcendence compared to a normative French cohort, with certain traits correlating with anxiety, depression, and quality of life.
- - The findings suggest that TCI is a reliable tool for assessing personality dimensions in PD patients, highlighting unique personality profiles and significant associations between personality traits and other clinical variables.
Background: Autoimmune encephalitis (AIE) is an increasingly broad nosological framework that may clinically mimic neurodegenerative diseases (NDDs).
Cases Reported: We describe here the clinical, radiological, electrophysiological, and biological evolution of three patients. Two women aged 73 and 72 years and a 69-year-old man presented with complex cognitive and focal neurological symptoms and each had a predominant frontal dysexecutive involvement and an unexpectedly high titer of anti-MAG antibodies in the serum and cerebrospinal fluid (CSF).
Objectives: Multiple system atrophy (MSA) is a rare fatal neurodegenerative disease characterized by parkinsonism, cerebellar ataxia and autonomic failure. This study was aimed at investigating possible associations between mortality, 24-h blood pressure (BP) level and variability, and drug treatments for orthostatic hypotension (OH) in MSA patients.
Methods: A total of 129 patients followed at the French Reference Center for MSA who underwent routine 24-h ambulatory BP monitoring were included.
Background: Deep brain stimulation of the sub-thalamic nucleus (DBS-STN) reduces symptoms in Parkinson's disease (PD) patients with motor fluctuations. However, some patients may not feel ameliorated afterwards, despite an objective motor improvement. It is thus important to find new predictors of patients' quality of life (QoL) amelioration after DBS-STN.
View Article and Find Full Text PDFBackground: 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).