Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale.

Background: Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. The Primary Lateral Sclerosis Functional Rating Scale (PLSFRS) was developed in the United States of America. The PLSFRS is a crucial assessment scale for international collaborative research and future clinical trials for PLS.

Baricitinib as a treatment for myasthenia gravis: a case report.

Myasthenia gravis (MG) is an autoimmune disease that targets neuromuscular junctions. While immunotherapy remains the cornerstone of treatment, the effects of Janus kinase (JAK) inhibitors on MG remain underexplored. In this report, we describe the case of a 58-year-old woman with ocular myasthenia gravis who received treatment with the JAK inhibitor, baricitinib for alopecia areata.

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone triggers the onset of the disease. We report the case of a patient who had SBMA coincident with Klinefelter syndrome.

Pharmacokinetics of Edaravone Oral Suspension in Patients With Amyotrophic Lateral Sclerosis.

Purpose: Edaravone is a neuroprotective agent approved as an intravenous treatment for amyotrophic lateral sclerosis (ALS). The intravenous administration of edaravone places a burden on patients and there is a clinical need for oral agents for the treatment of ALS. This report aimed to assess the pharmacokinetics and safety of an edaravone oral suspension in patients with ALS after oral and percutaneous endoscopic gastrostomy (PEG) tube administration.

Verification of propagation hypothesis in patients with sporadic hand onset amyotrophic lateral sclerosis.

Objective: If lesions in sporadic amyotrophic lateral sclerosis (ALS) originate from a single focal onset site and spread contiguously by prion-like cell-to-cell propagation at a constant speed, the lesion spread time should be proportional to the anatomical distance. We verify this model in the patients.

Methods: In 29 sporadic ALS patients with hand onset followed by spread to shoulder and leg, we retrospectively evaluated the inter/intra-regional spread time ratio: time interval of symptoms from hand-to-leg divided by that from hand-to-shoulder.

Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.

Background: Several genetic factors are associated with the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) and its phenotypes, such as disease progression. Here, in this study, we aimed to identify the genes that affect the survival of patients with sporadic ALS.

Methods: We enrolled 1076 Japanese patients with sporadic ALS with imputed genotype data of 7 908 526 variants.

Dynamics of AMPA receptors regulate epileptogenesis in patients with epilepsy.

The excitatory glutamate α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs) contribute to epileptogenesis. Thirty patients with epilepsy and 31 healthy controls are scanned using positron emission tomography with our recently developed radiotracer for AMPARs, [C]K-2, which measures the density of cell-surface AMPARs. In patients with focal-onset seizures, an increase in AMPAR trafficking augments the amplitude of abnormal gamma activity detected by electroencephalography.

Mollaret Meningitis Caused by Varicella-Zoster Virus: A Case Report.

Mollaret meningitis is a recurrent aseptic meningitis mostly caused by herpes simplex virus type 2. Other causes of the disease rarely exist, and its pathology is not well understood. Herein, we present a 57-year-old man who had been admitted to our hospital eight times with recurrent aseptic meningitis.

[A case of recurrent cerebral infarction in an adult patient with false Taussig-Bing anomaly].

The case was a 53-year-old woman. At birth, she was diagnosed with a false Taussig-Bing anomaly with pulmonary artery stenosis and a single ventricle. However, no cardiac surgery was performed, and conservative treatment was continued by a cardiovascular surgeon even after adulthood.

Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with small cell lung cancer and cytotoxic T-cell-mediated pathology: Case report.

Anti-N-methyl-D-aspartate receptor (NMDAR) antibody encephalitis is caused by a reversible inhibition of ion channel actions by autoantibodies and is associated with a relatively good prognosis. Pathological findings of NMDAR encephalitis usually do not show neurophagorous nodules, but rare or mild inflammatory infiltration. We report a patient of small cell lung cancer (SCLC)-related paraneoplastic encephalitis with NMDAR antibodies, a cytotoxic T-cell-mediated pathology of the brain, and a rapid clinical course.

Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.

We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and targeted long-read sequencing, and detailed genetic/epigenetic and clinical features were described. In AL-PCR, we could not recognize the wild-type allele in both patients.

[Oculomotor nerve palsy with preserved pupillary reaction in two cases of neurolymphomatosis].

Case 1: A 64-year-old woman with acute ptosis and diplopia was admitted to our hospital. She had right oculomotor nerve palsy with preserved pupillary reaction without any other neurological deficits. MRI showed abnormal enhancement in the right oculomotor nerve.

Plasma taurine is an axonal excitability-translatable biomarker for amyotrophic lateral sclerosis.

Although various body fluid biomarkers for amyotrophic lateral sclerosis (ALS) have been reported, no biomarkers specifically reflecting abnormalities in axonal excitability indices have currently been established. Capillary electrophoresis time-of-flight mass spectrometry and liquid chromatography time-of-flight mass spectrometry were used to perform a comprehensive metabolome analysis of plasma from seven ALS patients and 20 controls, and correlation analysis with disease phenotypes was then performed in 22 other ALS patients. Additionally, electrophysiological studies of motor nerve axonal excitability were performed in all ALS patients.

Subclinical involvement of the trunk muscles in idiopathic inflammatory myopathies.

Background: Whole-body magnetic resonance imaging (WB-MRI) is a useful tool for revealing the disease-specific distribution of affected muscles and clinically asymptomatic muscle involvements in idiopathic inflammatory myopathies (IIMs).

Purpose: To examine inflammatory changes in the systemic skeletal muscles, including the thoracoabdominal trunk, in IIMs using WB-MRI.

Material And Methods: We prospectively obtained WB-MRI axial images from 10 patients with IIMs, including antisynthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), sporadic inclusion body myositis, and myopathy associated with antimitochondrial antibody.

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.

DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis.

Candida brain abscesses in a patient with anorexia nervosa receiving total parenteral nutrition.

A 28-year-old woman with anorexia nervosa (AN) and Candida brain abscesses was transferred to our hospital for intensive treatment. On admission, she had a low-grade fever but no clinical neurological abnormalities were observed, even though she had a high-grade fever in the previous hospital. These clinical findings did not suggest a serious disorder in the brain.

Perceptual uncertainty modulates auditory statistical learning: A magnetoencephalography study.

Statistical learning allows comprehension of structured information, such as that in language and music. The brain computes a sequence's transition probability and predicts future states to minimise sensory reaction and derive entropy (uncertainty) from sequential information. Neurophysiological studies have revealed that early event-related neural responses (P1 and N1) reflect statistical learning - when the brain encodes transition probability in stimulus sequences, it predicts an upcoming stimulus with a high transition probability and suppresses the early event-related responses to a stimulus with a high transition probability.

Meningoencephalitis in relapsing polychondritis: A case report.

Rationale: Aseptic meningoencephalitis is a rare central nervous system complication of relapsing polychondritis (RP).

Patient: We report a 61-year-old Japanese male patient with spiking fever and impaired consciousness. Neurological examination revealed meningealirritation, and cerebrospinal fluid (CSF) examination showed lymphocytic pleocytosis with elevated protein (199 mg/dL) and interleukin-6 (3810 pg/mL).

Detection of NUCB2/nesfatin-1 in cerebrospinal fluid of multiple sclerosis patients.

NUCB2/nesfatin-1 was originally discovered as an anorexigenic peptide. However, recent studies revealed various additional functions including the regulation of inflammation. However, there are no studies that investigated the involvement of NUCB2/nesfatin-1 in neuroinflammatory diseases.

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. Approximately 90% of ALS cases are sporadic and thought to have multifactorial pathogenesis. To understand the genetics of sporadic ALS, we conducted a genome-wide association study using 1,173 sporadic ALS cases and 8,925 controls in a Japanese population.

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

Two recent genetic studies reported that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). The aim of this study is to investigate the frequency of KIF5A variants in Japanese patients with sporadic ALS. In total, 807 sporadic ALS patients and 191 normal controls from a multicenter ALS cohort in Japan were included.