Publications by authors named "Gabrielle Macaron"

Background: Effective communication between providers and people with multiple sclerosis (pwMS) is essential.

Objectives: To determine the level of concordance between provider- and pwMS-reported disease course.

Methods: Patient encounters from December 2015 through April 2020 were retrospectively reviewed for MS disease course self-reported by the patient and separately documented by the provider at each visit.

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Article Synopsis
  • A 40-year-old man with autoimmune encephalitis and a thymoma experienced severe neurological symptoms and multiple relapses despite initial treatments, which included thymectomy and first-line immunotherapy.
  • Initial antibody tests revealed acetylcholine receptor and titin antibodies, but further testing eventually identified anti-GABA receptor antibodies.
  • The case highlights the challenge of diagnosing and treating autoimmune encephalitis with coexisting antibodies, underscoring the need for targeted second-line therapies like rituximab in severe cases.
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Background: Cognitive impairment (CI) is common in multiple sclerosis (MS). Processing speed (PS) is often affected, making it an ideal target for monitoring CI. This study aims to evaluate the association between disease-modifying therapy (DMT) use and intensity and longitudinal changes in Processing Speed Test (PST) scores for individuals with MS.

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Article Synopsis
  • The global MS population is aging, with peak prevalence observed in individuals aged 55-65, leading to shifts in disease characteristics and progression.
  • Aging impacts the pathophysiology of MS, causing a consistent worsening of disability around age 50, which is independent of prior disease duration.
  • Older MS patients face unique challenges, such as diminished treatment efficacy, increased adverse effects from medications, and a higher burden of comorbidities, necessitating individualized treatment approaches.
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The phenotypic spectrum of myelin oligodendrocyte glycoprotein (MOG)-IgG associated disorders (MOGAD) has broadened in the past few years, and atypical phenotypes are increasingly recognized. Febrile meningoencephalitis has rarely been reported as a feature of MOGAD and represents a diagnostic challenge. We report the case of 24-year-old women with high-grade fever, meningoencephalomyelitis, and persistently positive MOG-IgG, for whom an extensive infectious work-up was negative and who responded to high-dose intravenous methylprednisolone.

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Introduction: Adult genetic leukoencephalopathies are rare neurological disorders that present unique diagnostic challenges due to their clinical and radiological overlap with more common white matter diseases, notably multiple sclerosis (MS). In this context, a strong collaborative multidisciplinary network is beneficial for shortening the diagnostic odyssey of these patients and preventing misdiagnosis. The White Matter Rounds (WM Rounds) are multidisciplinary international online meetings attended by more than 30 physicians and scientists from 15 participating sites that gather every month to discuss patients with atypical white matter disorders.

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Introduction: A number of disease-modifying therapies have been approved for use in relapsing-remitting multiple sclerosis (MS) in the past two decades. However, only few treatment options are available for patients with secondary progressive multiple sclerosis (SPMS). Siponimod has recently been approved for use in patients with active forms of SPMS (who experience clinical relapses or new lesions on MRI superimposed on secondary progression independent of relapse activity).

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Background: Annual screening for processing speed impairment (PSI) is recommended for patients with multiple sclerosis (pwMS). However, cognitive deficits in pwMS are heterogeneous, and whether PSI screening identifies patients with impairment in other cognitive domains is unclear. The objective of this study was to examine sensitivity and specificity of the self-administered, computerized Processing Speed Test (PST) in identifying cognitive impairment defined by a comprehensive neuropsychological battery (NPT).

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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare fatal autosomal dominant vasculopathy associated with mutations in the TREX1 gene. Only one de novo case has been reported in the literature. We report the long-term clinical, radiological, and pathological presentation of a patient with a de novo and novel mutation in this gene.

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Background: Severe residual visual loss (SRVL) is frequent in neuromyelitis optica spectrum disorders (NMOSD). Identifying higher-risk patients at onset is important to prevent disability accumulation.

Objective: To determine predictors of SRVL in a large NMOSD cohort.

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In the past decade, the therapeutic arsenal for multiple sclerosis has expanded greatly. Newer more potent disease modifying therapies (DMTs) with varying mechanisms of actions are increasingly used early in the disease course. These newer DMTs include oral therapies (teriflunomide, dimethyl fumarate, fingolimod, siponimod, ozanimod, and cladribine) and infusion therapies (natalizumab, alemtuzumab, and ocrelizumab), and are associated with better control of disease activity and long-term outcomes in patients with MS compared to older injectable therapies (interferon beta and glatiramer acetate).

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Background: Comprehensive and efficient assessments are necessary for clinical care and research in chronic diseases. Our objective was to assess the implementation of a technology-enabled tool in MS practice.

Method: We analyzed prospectively collected longitudinal data from routine multiple sclerosis (MS) visits between September 2015 and May 2018.

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Background: Objective and longitudinal measurements of disability in patients with multiple sclerosis (MS) are desired in order to monitor disease status and response to disease-modifying and symptomatic therapies. Technology-enabled comprehensive assessment of MS patients, including neuroperformance tests (NPTs), patient-reported outcome measures (PROMs), and MRI, is incorporated into clinical care at our center. The relationships of each NPT with PROMs and MRI measures in a real-world setting are incompletely studied, particularly in larger datasets.

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Background: Tuberculosis screening is recommended in multiple sclerosis patients starting certain disease-modifying therapies. Disease-modifying therapies may affect interferon-gamma release assay results.

Objective: To determine the effects of multiple sclerosis disease-modifying therapies on interferon-gamma release assay results.

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Purpose Of Review: With the recognition that pediatric-onset multiple sclerosis (POMS) is characterized by more prominent disease activity, earlier age at onset of disability milestones, and more prominent cognitive impairment compared with physical disability earlier in the disease course compared with adult-onset multiple sclerosis (AOMS), there has been increasing interest in identifying optimal and safe treatment approaches to achieve better disease control in this group. Injectable therapies have been traditionally used as first line in this population, although not formally approved. This review focuses on current treatment and monitoring approaches in POMS.

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Multiple sclerosis is a chronic autoimmune disease of the central nervous system that results in varying degrees of disability. Progressive multiple sclerosis, characterized by a steady increase in neurological disability independently of relapses, can occur from onset (primary progressive) or after a relapsing-remitting course (secondary progressive). As opposed to active inflammation seen in the relapsing-remitting phases of the disease, the gradual worsening of disability in progressive multiple sclerosis results from complex immune mechanisms and neurodegeneration.

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Background: Spasticity can be associated with several hyperkinetic involuntary movements generally referred to as "spasms" despite different phenomenology and clinical characteristics.

Objective: To better characterize the phenomenology and clinical characteristics of spasticity-associated involuntary movements.

Methods: We performed a cross-sectional study of a consecutive patient sample from the spasticity clinic.

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Knowledge on the clinical and radiological phenotype of myelin oligodendrocyte glycoprotein (MOG)-related disorders has been growing. We report the case of a patient who presented with subacute onset myelitis after an upper respiratory tract infection with normal cord imaging at onset and follow-up after 4 months (absence of lesions and atrophy), high-titer positive MOG-IgG, and a broad workup excluding other etiologies. The full clinical and radiological spectrum of MOG-related disorders is yet to be completely understood.

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Morvan syndrome (MoS) is a rare paraneoplastic autoimmune disorder characterized by peripheral nerve hyperexcitability, autonomic dysfunction, and sleep disorders. Systemic lupus erythmatosus (SLE) cooccurs in 6-10% of patients with thymoma. It may occur before, concurrently with, or after thymoma diagnosis.

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