A Retrospective Cohort Study of a Newly Proposed Criteria for Sporadic Creutzfeldt-Jakob Disease.

Background/objectives: Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative disorder traditionally diagnosed based on the World Health Organization (WHO) criteria in 1998. Recently, Hermann et al. proposed updated diagnostic criteria incorporating advanced biomarkers to enhance early detection of sCJD.

Specifically Decreased Thalamic Blood Flow Following COVID-19 Infection.

Although long COVID refers to numerous COVID-19-related symptoms after infection, including depression, fatigue, anosmia, sleep disturbances, and brain fog, the etiology of long COVID remains largely unknown. A 41-year-old woman presented with a 3-week history of complete insomnia without drowsiness throughout the day after contracting COVID-19. SPECT using N -isopropyl-p-[ 123 I] iodoamphetamine showed a significant regional cerebral blood flow reduction in the bilateral thalamus.

Serial changes in regional cerebral blood flow in Gerstmann-Sträussler-Scheinker disease caused by a Pro-to-Leu mutation at codon 105 in the prion protein gene.

Gerstmann-Sträussler-Scheinker disease with a Pro-to-Leu substitution at codon 105 in the prion protein gene (GSS-P105L) is a rare variant of human genetic prion disease. Herein, we report the case of a patient with GSS-P105L, who showed serial changes in regional cerebral blood flow (rCBF) on single-photon emission computed tomography (SPECT). A 42-year-old woman, with an affected father presenting with similar symptoms, had a 1-year history of progressive gait disturbance, lower-limb spasticity, and psychiatric symptoms.

Substitution of Glu to Lys at Codon 332 on the GFAP Gene Alone Is Causative for Adult-onset Alexander Disease.

A 57-year-old man whose mother had been pathologically diagnosed with Alexander disease (ALXDRD), presented with cerebellar ataxia, pyramidal signs, and mild dysarthria. Brain magnetic resonance imaging revealed typical ALXDRD alterations, such as atrophy of the medulla oblongata (MO) and cervical spinal cord, a reduced sagittal diameter of the MO, and garland-like hyperintensity signals along the lateral ventricular walls. A genetic analysis of GFAP by Sanger sequencing revealed a single heterozygous mutation of Glu to Lys at codon 332 (c.

Nationwide Laboratory Surveillance of Progressive Multifocal Leukoencephalopathy in Japan: Fiscal Years 2011-2020.

Progressive multifocal leukoencephalopathy (PML) is a devastating demyelinating disease caused by JC virus (JCV), predominantly affecting patients with impaired cellular immunity. PML is a non-reportable disease with a few exceptions, making national surveillance difficult. In Japan, polymerase chain reaction (PCR) testing for JCV in the cerebrospinal fluid (CSF) is performed at the National Institute of Infectious Diseases to support PML diagnosis.

Peripheral administration of nanomicelle-encapsulated anti-Aβ oligomer fragment antibody reduces various toxic Aβ species in the brain.

Background: Although a large amount of evidence has revealed that amyloid β (Aβ), especially Aβ oligomers, protofibrils, and pyroglutamated Aβs, participate primarily in the pathophysiological processes of Alzheimer's disease, most clinical trials of anti-Aβ antibody therapy have never acquired successful efficacy in human clinical trials, partly because peripheral administration of antibody medications was unable to deliver sufficient amounts of the molecules to the brain. Recently, we developed polymeric nanomicelles capable of passing through the blood-brain barrier that function as chaperones to deliver larger amounts of heavy molecules to the brain. Herein, we aimed to evaluate the efficacy of newly developed antibody 6H4 fragments specific to Aβ oligomers encapsulated in polymeric nanomicelles on the development of Alzheimer's disease pathology in Alzheimer's disease model mice at the age of emergence of early Alzheimer's disease pathology.

Entrapment partly participates in the longitudinal progression of neuropathy with anti-MAG antibodies.

Neuropathy with anti-myelin-associated glycoprotein (MAG) antibodies commonly demonstrates distal-dominant prolongation of nerve conduction. However, recent electrophysiological studies have shown that distal motor demyelination is not always a distinct feature. We aimed to elucidate whether the longitudinal progression of nerve impairment occurs in a distal-dominant manner.

Health-related quality of life in Japanese patients with multiple sclerosis.

Objectives: Neurological disabilities, especially physical issues, can adversely affect the daily lives of people with multiple sclerosis (MS) and negatively impact their health-related quality of life (HRQOL). On the other hand, physical and psychiatric symptoms are variable in people with MS, and QOL can be influenced by cultural and educational background. This study aimed to evaluate the association of HRQOL with disabilities, fatigue, and depression in Japanese subjects with MS.

Clinical impact of amyloid PET using F-florbetapir in patients with cognitive impairment and suspected Alzheimer's disease: a multicenter study.

Objective: Amyloid positron emission tomography (PET) can reliably detect senile plaques and fluorinated ligands are approved for clinical use. However, the clinical impact of amyloid PET imaging is still under investigation. The aim of this study was to evaluate the diagnostic impact and clinical utility in patient management of amyloid PET using F-florbetapir in patients with cognitive impairment and suspected Alzheimer's disease (AD).

Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies.

We herein report a 61-year-old woman who was genetically diagnosed with spinocerebellar ataxia type 31 whose symptoms were modified by anti-amino terminal of alpha-enolase (NAE) antibodies, known as a biomarker of Hashimoto's encephalopathy (HE), and ultimately responded to immunotherapy. The relative titers of anti-NAE antibodies increased when her cerebellar ataxia showed acute deterioration and decreased after immunotherapy. This is the first report of cerebellar ataxia associated with genetic spinocerebellar ataxia with concomitant cerebellar type HE.

Case Report: Dural Dissection With Ventral Spinal Fluid-Filled Collection in Superficial Siderosis: Insights Into the Pathology From Anterior-Approached Surgical Cases.

Superficial siderosis (SS) of the central nervous system is a rare disease caused by chronic and repeated hemorrhages in the subarachnoid space. Recently, attention has been paid on the association of SS and dural defect with ventral fluid-filled collection in the spinal canal (VFCC). The pathophysiology of hemosiderin deposition in patients with SS and dural defects is still unclear.

[Neurological Manifestations of COVID-19: Meningoencephalitis and Encephalopathy].

Coronavirus disease (COVID-19) causes neurological symptoms in a high percentage of patients and is associated with various types of encephalitides and encephalopathies, which are etiologically classified into (a)direct infection of the central nervous system with severe acute respiratory syndrome coronavirus 2 and resultant meningoencephalitis (this is a rare presentation), (b)COVID-19-induced cytokine storms, which trigger endothelial cell injury, blood-brain barrier disruption, and microangiopathy and consequent encephalopathy and, (c)autoimmune encephalitis secondary to para- or post-infectious mechanisms that play a key role during the acute or post-COVID-19 phase. Notably, some patients present with neurological symptoms as the first manifestation. Radiologically characteristic encephalitides and encephalopathies, such as acute necrotizing encephalopathy, acute disseminated encephalomyelitis, posterior reversible encephalopathy syndrome, and clinically mild encephalitis/encephalopathy with a reversible splenial lesion are also complicated by COVID-19.

Specific electroencephalogram features in the very early phases of sporadic Creutzfeldt-Jakob disease.

Studies on the very early electroencephalography (EEG) features prior to the emergence of generalized periodic discharges (GPDs, generally known as periodic sharp-wave complexes) in Creutzfeldt-Jakob disease (CJD) are rare. Fourteen patients with sporadic CJD (sCJD) (eight with MM1/classic and six with MM2c) were included in this study. The predominant findings of the first EEG were categorized as 1) lateralized periodic discharges (LPDs), 2) central sagittal sporadic epileptiform discharges (CSSEDs) showing midline predominant generalized spike-and-wave complexes and/or sharp waves in the central sagittal regions, or 3) focal epileptiform discharges.

Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.

Background: No studies have assessed the independent association of methionine homozygosity at codon 129 with the susceptibility to prion diseases, controlling for the effects of the codon 219 polymorphisms and other potential confounders, using a large-scale population-based dataset.

Methods: We conducted a case-control study using a Japanese nationwide surveillance database for prion diseases. The main exposure was methionine homozygosity at codon 129, and the outcome was development of prion diseases.

Amyloid-β oligomers interact with NMDA receptors containing GluN2B subunits and metabotropic glutamate receptor 1 in primary cortical neurons: Relevance to the synapse pathology of Alzheimer's disease.

Recent evidence suggests that soluble amyloid-β oligomers (AβOs) act as a key factor in the pathogenetic mechanism of Alzheimer's disease (AD). AβOs induce neurotoxic and synaptotoxic effects probably through binding to certain receptors, however it remains unclarified which receptors are most critically involved. In addition, dysregulation in glutamatergic signaling is implicated in AD.

Correlation of the symbol digit modalities test with the quality of life and depression in Japanese patients with multiple sclerosis.

Background: This study aimed to evaluate the association between cognitive impairment and health-related quality of life (HRQOL), fatigue, and depression in Japanese patients with multiple sclerosis (MS).

Methods: The Brief International Cognitive Assessment for MS (BICAMS) was performed in 184 Japanese patients with MS. The Functional Assessment of MS (FAMS), Fatigue Severity Scale (FSS), and Beck Depression Inventory-Second Edition (BDI-II) were used to evaluate HRQOL, fatigue, and depression, respectively.

Sacral dural arteriovenous fistula mimicking multiple mononeuropathy.

A sacral dural arteriovenous fistula (dAVF) is extremely rare, and the pathophysiological and clinical features have not been established. A 70-year-old man developed gradually progressive right-dominant bilateral sensory disorder of the lower limbs. His clinical course and electrophysiological findings were similar to those of multiple mononeuropathy.

Quantitative clinical and radiological recovery in post-operative patients with superficial siderosis by an iron chelator.

Background: Superficial siderosis is a rare neurodegenerative disease caused by hemosiderin deposition on the brain surface. Although the efficacy of the iron chelator-deferiprone-in superficial siderosis has recently been documented, a comparative study of patients who underwent surgical ablation of their bleeding source and subsequently received treatment with or without deferiprone has not yet been conducted.

Methods: Fifteen postoperative patients with superficial siderosis were recruited, and seven patients were administered deferiprone (combination therapy group).

Serum amyloid A level correlates with T2 lesion volume and cortical volume in patients with multiple sclerosis.

It is unclear whether brain atrophy in multiple sclerosis (MS) is associated with not only neuroinflammation but also systemic inflammation. Here we found that systemic inflammatory marker serum amyloid A (SAA) was moderately correlated with cortical volume in the patients with clinically isolated syndrome (CIS) and MS (r = -0.41, p = 0.

Width of the third ventricle as a highly-sensitive biomarker in chronic progressive neuro-Behçet's disease.

Chronic progressive neuro-Behçet's disease (CPNBD) is characterized by slowly progressive cognitive decline, cerebellar ataxia, and brainstem atrophy without acute encephalomeningitis. To evaluate the progression of CPNBD during treatment, we conducted a retrospective, longitudinal comparative analysis of the clinical features and brain magnetic resonance imaging (MRI) in patients with CPNBD. We classified participants into three groups: NBD with acute encephalomeningitis alone (Group A, 8 patients with acute neuro-Behçet's disease [ANBD]), primary progressive CPNBD (Group B, 3 patients), and a combination of acute encephalomeningitis, and chronic progression (Group C, 2 patients).

Early Pathological JC Virus Lesions in a Patient without Any MRI-based Indications.

A 70-year-old woman with a human T-cell leukemia virus type 1 infection without any focal neurological symptoms showed age-related atherosclerotic changes in the white matter without any suspicious signal changes suggestive of progressive multifocal leukoencephalopathy (PML) based on the findings of MRI. Viral polymerase chain reaction (PCR) revealed 6,700 copies/mL of the JC virus genome in the cerebrospinal fluid (CSF). An immuno-pathological examination of the autopsied brain revealed JC virus capsid proteins, and in situ hybridization confirmed a JC virus infection, indicating that an active infection begins at the radiologically indistinguishable phase of PML.