Dimethylfumarate (DMF) is largely used for treating multiple sclerosis (MS), but about 61% of DMF-treated patients develop lymphopenia, with its consequent associated risks. Biomarkers for monitoring treatment efficacy with DMF in patients with MS would be helpful in this field.

Researchers from Bern University Hospital and University of Bern presented data from a case study that identified the presence of anti-neurochondrin antibodies as a potential biomarker of primary autoimmune cerebellar ataxia (PACA).

Selenophosphate synthetase 1 (SEPHS1) plays an essential role in the metabolism of selenium and has ATPase activity that synthesizes selenophosphate from ATP and selenide. Researchers have hypothesized the potential involvement of SEPHS1 in genetic disorders. They presented a series of case reports involving 9 individuals with heterozygous missense variants in the SEPHS1 gene; all these variants resided in the C-terminal domain or near the AIR synthase-related domain of the gene.

Neuromyelitis optica-related disorder (NMORD) consists of a spectrum of diseases characterized by recurrent optic neuritis and/or myelitis, with most cases being associated with a pathogenic antibody against aquaporin-4 (AQP4-Abs) or antibodies targeting the myelin oligodendrocyte glycoprotein (MOG-Abs).

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of congenital disorders characterized by peripheral neuropathy.

There is a nearly 3-fold increased risk for ICU admission in COVID-19-positive males than females along with a greater risk of death.

The Undiagnosed Diseases Network uncovered three unrelated individuals with mutations in the gene encoding serine palmitoyltransferase small subunit A (SPTSSA).