Tatsushi Toda
YOU?
Author Swipe
View article: Vanishing White Matter Disease With <i>EIF2B2</i> c.254T>A Variant
Vanishing White Matter Disease With <i>EIF2B2</i> c.254T>A Variant Open
[This corrects the article DOI: 10.1212/NXG.0000000000200293.].
View article: A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP‐43 Pathology
A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP‐43 Pathology Open
Summary This study identified a novel amyotrophic lateral sclerosis subtype with prominent astroglial phosphorylated TDP‐43 inclusions and minimal neuronal inclusions. The patients shared a clinical phenotype of flail arm variant of ALS. T…
View article: 14PClinicopathological characteristics of chronic cases of immune-mediated necrotizing myopathy
14PClinicopathological characteristics of chronic cases of immune-mediated necrotizing myopathy Open
View article: Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant Open
This report highlights the clinically mild cases of VWM with subtle abnormalities on brain MRI who had the homozygous c.254T >A in EIF2B2, further expanding the clinical spectrum of VWM and underscoring the importance of genetic ass…
View article: Left inferior temporal hemorrhage due to cerebral amyloid angiopathy mimicking semantic dementia
Left inferior temporal hemorrhage due to cerebral amyloid angiopathy mimicking semantic dementia Open
View article: POS1363 IMMUNE LANDSCAPE OF MUSCLE-INFILTRATING CELLS IN IDIOPATHIC INFLAMMATORY MYOPATHIES: INSIGHTS FROM SINGLE-CELL TRANSCRIPTOMICS
POS1363 IMMUNE LANDSCAPE OF MUSCLE-INFILTRATING CELLS IN IDIOPATHIC INFLAMMATORY MYOPATHIES: INSIGHTS FROM SINGLE-CELL TRANSCRIPTOMICS Open
View article: Widespread distribution of α-synuclein oligomers in LRRK2-related Parkinson’s disease
Widespread distribution of α-synuclein oligomers in LRRK2-related Parkinson’s disease Open
View article: Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration Open
PLA2G6 -associated neurodegeneration (PLAN) encompasses a spectrum of phenotypes caused by biallelic pathogenic variants in PLA2G6 . Initially linked to infantile and atypical neuroaxonal dystrophy, PLAN now includes adult-onset conditions…
View article: Authors' Response to "If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected"
Authors' Response to "If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected" Open
View article: Regulation of MCCC1 expression by a Parkinson’s disease-associated intronic variant: implications for pathogenesis
Regulation of MCCC1 expression by a Parkinson’s disease-associated intronic variant: implications for pathogenesis Open
Parkinson’s disease (PD) is a common neurodegenerative disorder characterized by dopaminergic neuron loss and α-synuclein aggregation. While some familial cases result from single-gene mutations, most are sporadic, involving complex geneti…
View article: Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy Open
Biallelic loss-of-function variants in CLCN2 lead to CLCN2-related leukoencephalopathy (CC2L), also called leukoencephalopathy with ataxia (LKPAT). CC2L is characterized clinically by a spectrum of clinical presentations including childhoo…
View article: Clinicopathological features of anti-HMGCR and anti-SRP myopathies that do not satisfy the EULAR/ACR criteria of inflammatory myopathies
Clinicopathological features of anti-HMGCR and anti-SRP myopathies that do not satisfy the EULAR/ACR criteria of inflammatory myopathies Open
Objectives The clinicopathological features of immune-mediated necrotizing myopathy (IMNM) sometimes mimic muscular dystrophy, complicating accurate diagnosis. The European League Against Rheumatism (EULAR)/American College of Rheumatology…
View article: Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer’s disease-related primary progressive aphasia
Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer’s disease-related primary progressive aphasia Open
Alzheimer’s disease (AD)-related primary progressive aphasia (PPA) exhibits considerable heterogeneity in clinical presentation and neuroimaging patterns. No studies have quantitatively assessed cerebral perfusion patterns or systematicall…
View article: Case of Pure Agraphia in Kana and Romaji Without Sensorimotor Deficits After a Small Infarct of the Posterior Limb of the Internal Capsule
Case of Pure Agraphia in Kana and Romaji Without Sensorimotor Deficits After a Small Infarct of the Posterior Limb of the Internal Capsule Open
Selective impairment of thalamic radiation projecting to the left frontal cortex due to the plIC infarction can result in pure agraphia. Our findings suggest a specific role of the left anterior plIC in writing Kana and Romaji, specificall…
View article: In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy Open
Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1 , exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame …
View article: A subgroup of multiple system atrophy with rapid decline in vital capacity
A subgroup of multiple system atrophy with rapid decline in vital capacity Open
A decline in %VC with disease duration was observed in both MSA and PSP, with greater variation observed in MSA. Notably, a rapid decline in %VC was predominantly observed in patients with MSA-P during the early courses.
View article: SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report
SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report Open
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the …
View article: Factors affecting participation in web-based Alzheimer's questionnaire surveys: Lessons from the Japanese trial-ready cohort
Factors affecting participation in web-based Alzheimer's questionnaire surveys: Lessons from the Japanese trial-ready cohort Open
View article: Efficient variant phasing utilizing a replication cycle reaction system
Efficient variant phasing utilizing a replication cycle reaction system Open
View article: Contact Aspiration Combined with a Stent Retriever versus Contact Aspiration Alone in Mechanical Thrombectomy for Acute Ischemic Strokes: A Nationwide Analysis Using the Diagnosis Procedure Combination Database
Contact Aspiration Combined with a Stent Retriever versus Contact Aspiration Alone in Mechanical Thrombectomy for Acute Ischemic Strokes: A Nationwide Analysis Using the Diagnosis Procedure Combination Database Open
The proportion of patients with ICH did not differ significantly between the CA + SR group and CA groups. CA + SR was associated with worse functional outcomes, higher in-hospital mortality, and higher costs.
View article: Argyrophilic grain disease: epidemiology and association with cognitive decline and parkinsonism
Argyrophilic grain disease: epidemiology and association with cognitive decline and parkinsonism Open
Argyrophilic grain disease is an age-related disorder characterized by the presence of argyrophilic grains. Argyrophilic grain disease has a sequential distribution pattern that begins in the ambient gyrus (Saito Stage I), spreads to the m…
View article: Neurosarcoidosis Limited to the Central Nervous System and Spleen, Presenting with Episodic Nonfluent Aphasia
Neurosarcoidosis Limited to the Central Nervous System and Spleen, Presenting with Episodic Nonfluent Aphasia Open
View article: Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan
Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan Open
In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop…
View article: Oral applause sign in progressive supranuclear palsy
Oral applause sign in progressive supranuclear palsy Open
The applause sign (AS) is a recognized phenomenon observed in progressive supranuclear palsy (PSP) and other neurological conditions where individuals produce over three claps following a request to clap only thrice after a demonstration. …
View article: Widespread Distribution of α-Synuclein Oligomers in <i>LRRK2</i>-related Parkinson’s Disease
Widespread Distribution of α-Synuclein Oligomers in <i>LRRK2</i>-related Parkinson’s Disease Open
Mutations in leucine-rich repeat kinase 2 ( LRRK2 ) are the most common cause of familial and sporadic Parkinson’s disease (PD). While the clinical features of LRRK2 -PD patients resemble those of typical PD, there are significant differen…
View article: Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy
Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy Open
We herein report a 26-year-old man diagnosed with Wilson's disease (WD), initially treated for schizophrenia for 11 years. At 26 years old, he was admitted because of status epilepticus. Brain magnetic resonance imaging revealed frontal-do…
View article: Analyzing Response Rates and Respondent Demographics in Online Surveys Assessing Public Perception of Alzheimer’s Disease‐Modifying Therapies
Analyzing Response Rates and Respondent Demographics in Online Surveys Assessing Public Perception of Alzheimer’s Disease‐Modifying Therapies Open
Background With the recent approval of lecanemab, a disease‐modifying therapy (DMT) for Alzheimer’s Disease (AD), there is an urgent need to address healthcare system challenges to ensure the safe, effective, and sustainable delivery of ap…
View article: Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody
Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody Open
Anti-GM1 antibodies are associated with Guillain-Barré syndrome (GBS), primarily peripheral neuropathy. However, there are cases of anti-GM1 IgG antibody-positive GBS with upper motor neuron (UMN) signs. We herein report a case of gastroin…
View article: Prevalence and risk surveillance of anti-mitochondrial antibody-positive myositis: Outcomes of a nationwide survey
Prevalence and risk surveillance of anti-mitochondrial antibody-positive myositis: Outcomes of a nationwide survey Open
AMA-positive myositis is characterized by severe and urgent organ complications, and anticipatory management is critical for management of this disease.
View article: Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome
Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome Open
We herein report a case of reversible cerebral vasoconstriction syndrome (RCVS) with an unusual presentation of hyperdense blood vessels. A 53-year-old woman developed thunderclap headache. Brain computed tomography (CT) showed hyperdensit…