Primary progressive multiple sclerosis and neurofibromatosis type 1

Piotr Iwanowski; Marta Kowalska; Michał Prendecki; Jolanta Dorszewska; Wojciech Kozubski; Małgorzata Rydzanicz; Rafał Płoski; Jacek Losy

doi:10.1016/j.msard.2019.04.016

Primary progressive multiple sclerosis and neurofibromatosis type 1

Mult Scler Relat Disord. 2019 Jul:32:66-69. doi: 10.1016/j.msard.2019.04.016. Epub 2019 Apr 25.

Authors

Piotr Iwanowski¹, Marta Kowalska², Michał Prendecki², Jolanta Dorszewska², Wojciech Kozubski³, Małgorzata Rydzanicz⁴, Rafał Płoski⁴, Jacek Losy⁵

Affiliations

¹ Chair and Department of Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355 Poznan, Poland. Electronic address: bluep@op.pl.
² Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355 Poznan, Poland.
³ Chair and Department of Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355 Poznan, Poland.
⁴ Department of Medical Genetics, Medical University of Warsaw, 3c Pawinskiego St., 02-106 Warsaw, Poland.
⁵ Department of Clinical Neuroimmunology, Chair and Department of Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355 Poznan, Poland.

PMID: 31048186
DOI: 10.1016/j.msard.2019.04.016

Abstract

Background: Multiple sclerosis (MS) is a common inflammatory demyelinating disease of the central nervous system. The clinical phenotype is probably modified by interactions from genetic and environmental factors. Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disease. NF1 gene mutations lead to clinical manifestation in the peripheral and central nervous system. Coexistence of MS and NF1 is a rare condition.

Objective: To report the case of the patient with primary progressive MS (PPMS) and NF1.

Methods: A retrospective analysis of a patient who has undergone whole exome sequencing confirmed by Sanger sequencing.

Results: We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia.

Conclusion: Co-occurrence of PPMS and NF1 may be a consequence of genetic changes.

Keywords: Multiple sclerosis; Neurofibromatosis type 1; Primary progressive multiple sclerosis.

Publication types

Case Reports

MeSH terms

Adult
Amino Acid Sequence
Female
Humans
Multiple Sclerosis, Chronic Progressive / complications*
Multiple Sclerosis, Chronic Progressive / diagnosis*
Multiple Sclerosis, Chronic Progressive / genetics
Neurofibromatosis 1 / complications*
Neurofibromatosis 1 / diagnosis*
Neurofibromatosis 1 / genetics