Primary progressive multiple sclerosis and neurofibromatosis type 1

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.