Japanese longitudinal biomarker study in progressive supranuclear palsy and corticobasal degeneration: Clinical features of the first registered patients and short-term follow-up analysis.

Introduction: Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) manifest with variable clinical features. We initiated a multicenter prospective registry study-the Japanese Longitudinal Biomarker Study in PSP and CBD-in November 2014 at 45 Japanese institutions to collect clinical information and biological samples to elucidate the natural courses and diagnostic biomarkers of PSP/CBD.

Methods: Initial symptoms, clinical features, and scores (Progressive Supranuclear Palsy Rating Scale [PSPRS], Barthel Index, Mini-Mental State Examination, and Frontal Assessment Battery) of patients clinically diagnosed with PSP/corticobasal syndrome (CBS) at the first registration were analyzed.

Pathological study of progressive supranuclear palsy the cases with mutations in Bassoon.

Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.

Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes.

Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC), a rare and complex neurological disorder, is predominantly observed in the Western Pacific islands, including regions of Japan, Guam, and Papua. This enigmatic condition continues to capture medical attention due to affected patients displaying symptoms that parallel those seen in either classical amyotrophic lateral sclerosis (ALS) or Parkinson's disease (PD). Distinctly, postmortem examinations of the brains of affected individuals have shown the presence of α-synuclein aggregates and TDP-43, which are hallmarks of PD and classical ALS, respectively.

Degeneration of olivospinal tract in the upper cervical spinal cord of multiple system atrophy patients: Reappraisal of Helweg's triangular tract.

Multiple system atrophy (MSA) is an adult-onset neurodegenerative disorder that presents with variable combinations of autonomic dysfunction, cerebellar ataxia, parkinsonism, and pyramidal signs. The inferior olivary nucleus is targeted in MSA, with a phenotype of olivopontocerebellar atrophy in particular, and involvement of the olivocerebellar tract is well known. However, degeneration of the olivospinal tract has not been studied in MSA.

Effect of therapeutic exercise on the balance of patients with progressive supranuclear palsy: A pilot study.

Background: Progressive supranuclear palsy (PSP) is a parkinsonian-like progressive neurodegenerative syndrome. Key clinical features include ocular motor dysfunction, postural instability, and cognitive dysfunction. Maintaining and improving balance function and gait function are very important for patients with PSP with severe postural dysfunction and repeated falls.

Neuropathology and emerging biomarkers in corticobasal syndrome.

Corticobasal syndrome (CBS) is a clinical syndrome characterised by progressive asymmetric limb rigidity and apraxia with dystonia, myoclonus, cortical sensory loss and alien limb phenomenon. Corticobasal degeneration (CBD) is one of the most common underlying pathologies of CBS, but other disorders, such as progressive supranuclear palsy (PSP), Alzheimer's disease (AD) and frontotemporal lobar degeneration with TDP-43 inclusions, are also associated with this syndrome.In this review, we describe common and rare neuropathological findings in CBS, including tauopathies, synucleinopathies, TDP-43 proteinopathies, fused in sarcoma proteinopathy, prion disease (Creutzfeldt-Jakob disease) and cerebrovascular disease, based on a narrative review of the literature and clinicopathological studies from two brain banks.

[Autonomic Dysfunction in Tauopathies].

Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are tauopathies that clinically present with atypical parkinsonism. Autonomic dysfunction is known to occur in synucleinopathies, particularly in cases of multiple system atrophy; however, the frequency and features of autonomic dysfunction in patients with tauopathies remain unclear. Recent studies have reported that urinary dysfunction and constipation are common and affect the prognosis of patients with PSP.

Analysis of factors contributing to medication errors during self-management of medication in the rehabilitation ward: a case control study.

Background: In the rehabilitation ward, many elderly patients require continuous use of medication after a stroke or bone fracture, even after discharge. They are encouraged to self-manage their medications from the time of admission. Medication errors, such as a missed dose or incorrect administered medication can worsen conditions, resulting in recurrent strokes, fractures, or adverse effects.

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.

[Career Path and Leadership in Female Neurologists at a City Hospital].

My own career path at a hospital evolved into multicenter joint research by advancing clinical research on the theme of clinicopathological study, and falls in the clinical field after the period of life events. Even if your work is temporarily delayed during a life event, you do not have to worry as you can fully recover by continuing what you think is important. A variety of approaches, including leadership education, are essential for female physicians to continue their work without burnout.

Safety and efficacy of anti-tau monoclonal antibody gosuranemab in progressive supranuclear palsy: a phase 2, randomized, placebo-controlled trial.

A randomized, double-blind, placebo-controlled, 52-week study (no. NCT03068468) evaluated gosuranemab, an anti-tau monoclonal antibody, in the treatment of progressive supranuclear palsy (PSP). In total, 486 participants dosed were assigned to either gosuranemab (n = 321) or placebo (n = 165).

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.

Introduction: Accumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients, and has the potential to serve as a biological marker for this disease [1]. Based on these findings, we investigated whether polyQ ATXN3 can also be detected in urine samples from SCA3 patients.

Skeletal muscle loss and body composition in progressive supranuclear palsy: A retrospective cross-sectional study.

Introduction: Skeletal muscle mass loss has been associated with decreased physical performance; however, the body composition characteristics in progressive supranuclear palsy (PSP) are not well understood. We investigated body composition parameters, focusing on skeletal muscle mass, in patients with PSP and compared them with those of healthy older adults.

Methods: This retrospective cross-sectional study included 39 patients with PSP and 30 healthy older adults (control group).

[Burnout in Japanese neurologists: comparison of male and female physicians].

A questionnaire survey was conducted on 8,402 members of the Japanese Neurological Society to examine the current status and countermeasures for physician burnout, and 1,261 respondents (15.0%) responded. In this paper, we report the results of a comparison between male and female physicians.

[Current and future strategies for burnout in Japanese neurologists].

To identify factors associated with burnout among Japanese physician and to use them in future measures, the Japanese Society of Neurology conducted a survey of neurologists on burnout using a web-based questionnaire in October 2019. A total of 1,261 respondents, 15.0% of the 8,402 members, responded to the survey.

Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy.

Background: The International Parkinson and Movement Disorder Society-endorsed Progressive Supranuclear Palsy Study Group published clinical diagnostic criteria for progressive supranuclear palsy in 2017, aiming to optimize early, sensitive and specific diagnosis.

Objective: To assist physicians in the application of these criteria, we developed a video-based tutorial in which all core clinical features and clinical clues are depicted and explained.

Methods: Patients provided written informed consent to the publication of their videos.

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.

Cognitive and behavioral status in Japanese ALS patients: a multicenter study.

Objectives: Amyotrophic lateral sclerosis (ALS) patients may present with cognitive and behavioral abnormalities similar to frontotemporal dementia (FTD). In this multicenter study we examined Japanese ALS patients with and without FTD in order to characterize the full extent of cognitive and behavioral abnormalities, including associations with functional motor status, anxiety and depression.

Methods: Patients were evaluated using the Montreal Cognitive Assessment (MoCA), Frontal Assessment Battery (FAB), Hospital Anxiety and Depression Scale, ALS Functional Rating Scale-Revised, spirometry, and verbal fluency tests.