Effectiveness of fremanezumab treatment in patients with migraine headache.

Objective: To evaluate the efficacy and safety of fremanezumab for migraine prevention.

Design: Retrospective, single-center, real-world study.

Setting: Regional tertiary headache center in Japan.

A Case of Invasive Rhinosinusitis Presenting with Unilateral Visual Loss and Subsequently Associated with Meningitis, Subarachnoid Hemorrhage, and Cerebral Infarction.

Visual impairment can occur because of several mechanisms, including optic nerve disease and occasionally fungal sinusitis. An 87-year-old man presented with the loss of right visual acuity; he was diagnosed with optic neuritis. Steroid pulse therapy was not effective.

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

GNE myopathy is an autosomal recessive distal myopathy caused by loss-of-function mutations in the GNE gene, which encodes UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE), a key enzyme in sialic-acid biosynthesis. By comprehensive screening of manifesting patients using a fine-mapped targeted next-generation sequencing (NGS), we identified copy number variations (CNVs) in 13 patients from 11 unrelated families. The nine unique CNVs largely vary in size from 0.

Antibodies to neural and non-neural autoantigens in Japanese patients with CNS demyelinating disorders.

Anti-aquaporin 4 (AQP4) antibodies (Abs) are essential in neuromyelitis optica spectrum disorders (NMOSD), but the relationship between CNS demyelinating disorders (CNSDD) and other neural Abs remains unclear. Here we screened anti-neural Abs in the sera of 70 Japanese CNSDD patients. While two had only demyelinating events among three anti-N-methyl-d-aspartate receptor (NMDAR) Ab-positive subjects, the other subject who also had anti-AQP4 Abs experienced episodes of anti-NMDAR encephalitis and of NMOSD.