Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI

Abstract Neurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the prevalence of spinal abnormalities in a collective of NF1 patients that is representative for the general NF1 population, to associate the...

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Autores principales:	Well Lennart, Careddu Anna, Stark Maria, Farschtschi Said, Bannas Peter, Adam Gerhard, Mautner Victor-Felix, Salamon Johannes
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d004c12e6c8649d1ae975a166006271c
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spelling	oai:doaj.org-article:d004c12e6c8649d1ae975a166006271c2021-12-02T18:51:41ZPhenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI10.1038/s41598-021-96310-x2045-2322https://doaj.org/article/d004c12e6c8649d1ae975a166006271c2021-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-96310-xhttps://doaj.org/toc/2045-2322Abstract Neurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the prevalence of spinal abnormalities in a collective of NF1 patients that is representative for the general NF1 population, to associate the co-appearance of spinal abnormalities with both NF1 and clinical symptoms and to investigate if different mutations of the NF1 gene affect the prevalence of these abnormalities. Retrospectively, 275 patients with NF1 and an age- and sex-matched collective of 262 patients were analyzed. The prevalence of spinal abnormalities was recorded. Mutational analysis of the NF1 gene was obtained in 235 NF1 patients. Associations between spinal abnormalities, clinical symptoms and genotype were investigated by binary logistic regression analysis. Prevalence of all spinal abnormalities was higher in NF1 patients than in the control group. Six characteristics of spinal abnormalities were significantly associated with NF1 (all p < 0.05). An influence of scalloping on scoliosis (OR 3.01; p = 0.002); of meningoceles (OR 7.63) and neuroforaminal tumors (OR 2.96) on scalloping, and of dural ectasia on neuroforaminal tumors (OR 1.93) was identified. Backpain and loss of motor function were associated with neuroforaminal tumors, spinal tumors and scalloping of vertebral bodies (all p < 0.05). Specific mutations of the NF1 gene were not relevantly associated with the development of spinal abnormalities. These findings can aid clinicians to improve clinical care of NF1 patients by creating awareness for co-appearences of specific spinal abnormalities and associated symptoms.Well LennartCareddu AnnaStark MariaFarschtschi SaidBannas PeterAdam GerhardMautner Victor-FelixSalamon JohannesNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Well Lennart Careddu Anna Stark Maria Farschtschi Said Bannas Peter Adam Gerhard Mautner Victor-Felix Salamon Johannes Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
description	Abstract Neurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the prevalence of spinal abnormalities in a collective of NF1 patients that is representative for the general NF1 population, to associate the co-appearance of spinal abnormalities with both NF1 and clinical symptoms and to investigate if different mutations of the NF1 gene affect the prevalence of these abnormalities. Retrospectively, 275 patients with NF1 and an age- and sex-matched collective of 262 patients were analyzed. The prevalence of spinal abnormalities was recorded. Mutational analysis of the NF1 gene was obtained in 235 NF1 patients. Associations between spinal abnormalities, clinical symptoms and genotype were investigated by binary logistic regression analysis. Prevalence of all spinal abnormalities was higher in NF1 patients than in the control group. Six characteristics of spinal abnormalities were significantly associated with NF1 (all p < 0.05). An influence of scalloping on scoliosis (OR 3.01; p = 0.002); of meningoceles (OR 7.63) and neuroforaminal tumors (OR 2.96) on scalloping, and of dural ectasia on neuroforaminal tumors (OR 1.93) was identified. Backpain and loss of motor function were associated with neuroforaminal tumors, spinal tumors and scalloping of vertebral bodies (all p < 0.05). Specific mutations of the NF1 gene were not relevantly associated with the development of spinal abnormalities. These findings can aid clinicians to improve clinical care of NF1 patients by creating awareness for co-appearences of specific spinal abnormalities and associated symptoms.
format	article
author	Well Lennart Careddu Anna Stark Maria Farschtschi Said Bannas Peter Adam Gerhard Mautner Victor-Felix Salamon Johannes
author_facet	Well Lennart Careddu Anna Stark Maria Farschtschi Said Bannas Peter Adam Gerhard Mautner Victor-Felix Salamon Johannes
author_sort	Well Lennart
title	Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
title_short	Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
title_full	Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
title_fullStr	Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
title_full_unstemmed	Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
title_sort	phenotyping spinal abnormalities in patients with neurofibromatosis type 1 using whole-body mri
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d004c12e6c8649d1ae975a166006271c
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Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI

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