Neuromyelitis optica spectrum disorder (NMOSD) is characterized by optic neuritis or transverse myelitis with anti-aquaporin 4 (AQP4) antibodies (1). We herein present the case of a patient with NMOSD who also was affected with peripheral neuropathy. A 58-year-old woman developed gait disturbance and sensory impairment in the lower limbs. She exhibited longitudinally extensive transverse myelitis with anti-AQP4 antibodies. Nerve conduction studies showed demyelinating changes. Laboratory findings showed hepatitis-C virus (HCV) infection. Her peripheral neuropathy improved after immunotherapy. There have been no previous reports of NMO or NMOSD associated with neuropathy. The HCV infection or undetermined humoral factors other than the anti-AQP4 antibodies may have caused her peripheral neuropathy.
Glial fibrillary acidic protein (GFAP) mutation has been reported in Alexander disease. We report a 31-year-old woman suffering from Alexander disease with a V87L mutation in GFAP. She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic gait, and bladder dysfunction. Brain magnetic resonance imaging (MRI) showed atrophy of the medulla oblongata and mild cervical cord atrophy, deep white matter abnormalities, periventricular rim, and signal changes of the medulla oblongata and dentate hilum. Sequence analysis of her GFAP gene showed a heterozygous c.273G>C mutation predictive of a p.V87L amino acid substitution. We concluded that she was actually affected with Alexander disease. Twenty months later she fell down and sustained a head contusion. Urgent head computed tomography (CT) showed calcification in the subcortical and cortical regions, which may relate to the psychomotor regression and history of seizures. Calcification in the subcortical and cortical regions on head CT has not been reported in Alexander disease; this may be associated with a V87L mutation in GFAP.
In this study, we investigated the clinical relevance of anti-myelin antibodies in patients with neuromyelitis optica (NMO); titers of antibodies against myelin oligodendrocyte glycoproteins, proteolipid proteins and myelin basic proteins were measured in the sera of patients with NMO and compared to healthy controls, as well as to patients with other diseases. The frequency of presence of anti-myelin antibodies in patients with NMO was significantly higher than that in healthy and diseased controls. The expanded disability status scale scores correlated with the titers of the anti-myelin antibodies. Patients with anti-myelin antibody exhibited other autoantibodies significantly more frequently than patients without the antibody. Anti-myelin antibodies may be useful markers for predicting severe clinical courses in patients with NMO.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.