Two cases of
Neuromyelitis optica
genetics
mitochondrial disease
relapsing/remitting
Journal
Multiple sclerosis (Houndmills, Basingstoke, England)
ISSN: 1477-0970
Titre abrégé: Mult Scler
Pays: England
ID NLM: 9509185
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
medline:
19
6
2023
pubmed:
25
5
2023
entrez:
25
5
2023
Statut:
ppublish
Résumé
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease primarily affecting the optic nerves and spinal cord, which is usually associated with anti-aquaporin-4 antibodies. Here, we present two individuals who were negative for anti-aquaporin-4 antibodies and were initially diagnosed with seronegative NMOSD. Each patient's clinical course and radiographic features raised suspicion for an alternative disease process. Both individuals were found to have pathogenic variants of
Identifiants
pubmed: 37227101
doi: 10.1177/13524585231172947
doi:
Substances chimiques
Aquaporin 4
0
Autoantibodies
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM