Cargando…
Neurofibromatosis I and multiple sclerosis
Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofibromin, a regulator of neuronal differentiation. While NF1 individuals are predisposed to...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362462/ https://www.ncbi.nlm.nih.gov/pubmed/32664938 http://dx.doi.org/10.1186/s13023-020-01463-z |
_version_ | 1783559497316302848 |
---|---|
author | Bergqvist, Christina Hemery, François Ferkal, Salah Wolkenstein, Pierre |
author_facet | Bergqvist, Christina Hemery, François Ferkal, Salah Wolkenstein, Pierre |
author_sort | Bergqvist, Christina |
collection | PubMed |
description | Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofibromin, a regulator of neuronal differentiation. While NF1 individuals are predisposed to develop benign and malignant nervous system tumors, various non-tumoral neurological conditions including multiple sclerosis (MS) have also been reported to occur more frequently in NF1. The number of epidemiologic studies on MS in NF1 individuals is very limited. The aim of this study was to determine the estimated population proportion of MS in NF1 patients followed in our Referral Centre for Neurofibromatosis using the Informatics for Integrated Biology and the Bedside (i2b2) platform to extract information from the hospital’s electronic health records. We found a total 1507 patients with confirmed NF1, aged 18 years (y) and above (mean age 39.2y, range 18-88y; 57% women). Five NF1 individuals were found to have MS, yielding an estimated population proportion of 3.3 per 1000 (0.0033, 95% Confidence Interval 0.0014–0.0077). The median age at diagnosis was 45 y (range 28–49 y). Three patients had relapsing-remitting MS and two patients had secondary progressive MS. Patients with NF1 were found to be twice more likely to develop MS than the general population in France (odds ratio 2.2), however this result was not statistically significant (95% Confidence Interval 0.91–5.29). Our results show that patients with NF1 might have a slight increased tendency to develop MS; however, due to the small sample size of our study, the results may not be sufficiently powered to detect this rare association. Large-scale epidemiological studies based on nationwide datasets are needed to confirm our findings. These findings further emphasize the need for a focused follow-up of patients with NF1, as early detection and management of MS can prevent further neurological disability. |
format | Online Article Text |
id | pubmed-7362462 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-73624622020-07-17 Neurofibromatosis I and multiple sclerosis Bergqvist, Christina Hemery, François Ferkal, Salah Wolkenstein, Pierre Orphanet J Rare Dis Letter to the Editor Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofibromin, a regulator of neuronal differentiation. While NF1 individuals are predisposed to develop benign and malignant nervous system tumors, various non-tumoral neurological conditions including multiple sclerosis (MS) have also been reported to occur more frequently in NF1. The number of epidemiologic studies on MS in NF1 individuals is very limited. The aim of this study was to determine the estimated population proportion of MS in NF1 patients followed in our Referral Centre for Neurofibromatosis using the Informatics for Integrated Biology and the Bedside (i2b2) platform to extract information from the hospital’s electronic health records. We found a total 1507 patients with confirmed NF1, aged 18 years (y) and above (mean age 39.2y, range 18-88y; 57% women). Five NF1 individuals were found to have MS, yielding an estimated population proportion of 3.3 per 1000 (0.0033, 95% Confidence Interval 0.0014–0.0077). The median age at diagnosis was 45 y (range 28–49 y). Three patients had relapsing-remitting MS and two patients had secondary progressive MS. Patients with NF1 were found to be twice more likely to develop MS than the general population in France (odds ratio 2.2), however this result was not statistically significant (95% Confidence Interval 0.91–5.29). Our results show that patients with NF1 might have a slight increased tendency to develop MS; however, due to the small sample size of our study, the results may not be sufficiently powered to detect this rare association. Large-scale epidemiological studies based on nationwide datasets are needed to confirm our findings. These findings further emphasize the need for a focused follow-up of patients with NF1, as early detection and management of MS can prevent further neurological disability. BioMed Central 2020-07-14 /pmc/articles/PMC7362462/ /pubmed/32664938 http://dx.doi.org/10.1186/s13023-020-01463-z Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Letter to the Editor Bergqvist, Christina Hemery, François Ferkal, Salah Wolkenstein, Pierre Neurofibromatosis I and multiple sclerosis |
title | Neurofibromatosis I and multiple sclerosis |
title_full | Neurofibromatosis I and multiple sclerosis |
title_fullStr | Neurofibromatosis I and multiple sclerosis |
title_full_unstemmed | Neurofibromatosis I and multiple sclerosis |
title_short | Neurofibromatosis I and multiple sclerosis |
title_sort | neurofibromatosis i and multiple sclerosis |
topic | Letter to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362462/ https://www.ncbi.nlm.nih.gov/pubmed/32664938 http://dx.doi.org/10.1186/s13023-020-01463-z |
work_keys_str_mv | AT bergqvistchristina neurofibromatosisiandmultiplesclerosis AT hemeryfrancois neurofibromatosisiandmultiplesclerosis AT ferkalsalah neurofibromatosisiandmultiplesclerosis AT wolkensteinpierre neurofibromatosisiandmultiplesclerosis |