Publications by authors named "Emeline Berthelot"

4 Publications

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Asian and African/Caribbean AQP4-NMOSD patient outcomes according to self-identified race and place of residence.

Mult Scler Relat Disord 2021 Jun 15;53:103080. Epub 2021 Jun 15.

Nuffield Department of Clinical Neurosciences, West Wing, John Radcliffe Hospital, Oxford University Hospitals, Oxford OX3 9DU, United Kingdom. Electronic address:

Background: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune astrocytopathy characterized by aquaporin-4 antibodies, whose prognosis is influenced by onset age, race, environmental exposures and immunosuppression. Distinguishing the contribution of environment from genetics is challenging. We aimed to compare neuromyelitis optica spectrum disorder (NMOSD) patient outcomes according to self-identified racial group and place of residence.

Methods: This retrospective analysis of prospectively collected data included non-white anti-aquaporin-4 antibody positive NMOSD patients under follow-up from 15 centers [United Kingdom, France, Germany, Denmark, Martinique, United States of America, Japan, South Korea, Singapore, Thailand, China (including Hong Kong) and India]. Racial groups were designated: African/Caribbean; South Asian; East Asian (including Southeast Asia). Patients from these racial groups residing outside Africa/Caribbean or Asia were compared with those living in the Caribbean or the Asian areas. Kaplan-Meier survival curves and Cox models were generated using time to sustained Expanded Disability Status Scale≥6.0 or death; time to sustained Kurtzke Visual Function Score≥3.0 or a composite endpoint of all three.

Results: Among 821 patients, African/Caribbean patients (n = 206) had the shortest time to immunosuppression and higher visual disability at onset. South Asian patients (n = 65) were younger, had lower visual disability at onset and higher mortality rate. East Asians (n = 550) had the lowest relapse rate and lowest accrued motor disability. Survival analysis of African/Caribbean outside Africa/Caribbean vs those in the Caribbean showed a significant difference in the composite endpoint (p = 0.024,log-rank test), not apparently related to treatment differences. No significant differences between native and those residing outside Asia were found for other racial groups.

Conclusion: This NMOSD study reports the effects of place of residence on the outcomes in different races. Place of residence may not be a significant driver of disability among Asian patients, while it may influence African/Caribbean patient outcomes. Validating these findings could help distinguish between genetic causes and potentially modifiable environmental factors.
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http://dx.doi.org/10.1016/j.msard.2021.103080DOI Listing
June 2021

Long-term effect of apomorphine infusion in advanced Parkinson's disease: a real-life study.

NPJ Parkinsons Dis 2021 Jun 11;7(1):50. Epub 2021 Jun 11.

Neurology Department, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Long-term effects of continuous subcutaneous apomorphine infusion (CSAI) on health-related quality of life (HRQoL) and predictors of CSAI discontinuation are poorly known. Data from consecutive advanced Parkinson's disease patients treated in routine care were retrospectively collected over 24 months after CSAI initiation, with a focus on the 39-item Parkinson's disease questionnaire (PDQ-39). We determined predictors of CSAI discontinuation and HRQoL improvement using multiple regression analysis. Of the 110 subjects evaluated over a 2-year period, 35% discontinued CSAI. Of those who continued treatment, HRQoL remained stable with a sustained reduction in motor fluctuations. The observed effect on dyskinesias was mild and transient. Of note, patients with preexisting impulse control disorders showed an overall good tolerability. PDQ-39 was the only baseline predictor of HRQoL improvement after 2 years of treatment. The presence of dyskinesias, poorer psychological status, shorter disease duration, male sex, and worse OFF state were predictors of discontinuation. Best candidates for CSAI are patients with: (i) poor baseline HRQoL and (ii) marked motor fluctuations.
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http://dx.doi.org/10.1038/s41531-021-00194-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196159PMC
June 2021

Multiple sclerosis-like NMOSD patients suffer severe worsening of status after fingolimod initiation.

Mult Scler Relat Disord 2021 Jul 24;52:102975. Epub 2021 Apr 24.

Service de Neurologie, Hôpital Zobda Quitman, 97261 Fort-de-France, French West Indies.

Background: Initial clinical manifestations of NMOSD may rarely overlap with MS. Fingolimod may trigger severe attacks in patients with NMOSD previously misdiagnosed as MS. These cases are rare and their pathophysiology remains elusive.

Methods: We recruited all NMOSD patients treated by fingolimod in a single-center cohort of Afro-Caribbean neuro-inflammatory patients in Fort-de-France (French West Indies). Six patients were collected from the literature.

Results: Among 622 patients followed locally for MS, 101 received fingolimod and two suffered severe attacks revealing a typical NMOSD presentation. These two patients were found to have AQP4-IgG. The risk of misdiagnosed NMOSD in MS in our high-risk Afro-Caribbean patients was estimated to be 1.9% (0 to 4.7%). Among the whole cohort, relapses occurred within a month after fingolimod initiation in five patients. All attacks were severe and contrasted with previously benign attacks, suggesting a shift to a more severe disorder. An unusual finding in these patients was large brain lesions.

Conclusion: AQP4-IgG should be obtained before initiation of fingolimod in high-risk patients, especially in those from areas of high NMOSD prevalence.
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http://dx.doi.org/10.1016/j.msard.2021.102975DOI Listing
July 2021

Familial clustering of neuromyelitis optica and multiple sclerosis: clues pointing towards shared risks?

Mult Scler Relat Disord 2020 Sep 4;44:102371. Epub 2020 Jul 4.

Service de Neurologie, Hôpital Zobda Quitman, 97261 Fort-de-France, French West Indies.

We examine the prevalence of the familial association of concordant NMOSD/NMOSD and discordant NMOSD/MS cases among a large NMOSD cohort. Familial association was examined in a monocenter cohort of 119 NMOSD patients and 45 patients at high risk of NMOSD from French West Indies. Data mining gathered 31 multiplex families. Twin monozygotic sisters concordant for NMOSD/NMOSD, and four discordant NMOSD/MS families, accounted respectively for 0.8% and 3.4% of the NMOSD cohort. Familial clustering was more frequent than random association. In discordant NMOSD/MS families, the NMOSD patient was always from the parental generation. The non-random successive familial cases of NMOSD and MS suggest a change of risk factor over generations.
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http://dx.doi.org/10.1016/j.msard.2020.102371DOI Listing
September 2020