Mari Yoshida
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View article: Author Correction: Structures of α-synuclein filaments from multiple system atrophy
Author Correction: Structures of α-synuclein filaments from multiple system atrophy Open
View article: Revisiting ‘hot cross bun’ sign: a multicentre MRI study of 97 patients with autopsy-confirmed multiple system atrophy
Revisiting ‘hot cross bun’ sign: a multicentre MRI study of 97 patients with autopsy-confirmed multiple system atrophy Open
Background The purpose of this study was to clarify the usefulness of the ‘hot cross bun’ sign (HCBS) as a diagnostic imaging marker in a large cohort of patients with multiple system atrophy (MSA) and spinocerebellar ataxia (SCA). Methods…
View article: Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population
Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population Open
Background Little is known about the rare missense variants (RMVs) of APOE in East Asians, including the Japanese, and their association with Alzheimer's disease (AD) and lipid metabolism. Objective To identify APOE RMVs in the Japanese po…
View article: Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings
Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings Open
Our results suggested that case review meetings in a multicenter study may improve diagnostic consistency, especially in bvFTD.
View article: Validation of the neuropathological criteria of the fourth <scp>Consortium</scp> on dementia with <scp>Lewy</scp> Bodies in autopsy cases from psychiatric hospitals
Validation of the neuropathological criteria of the fourth <span>Consortium</span> on dementia with <span>Lewy</span> Bodies in autopsy cases from psychiatric hospitals Open
Aim The pathological criteria from the fourth Consortium on Dementia With Lewy bodies (DLB) in psychiatric cohorts has not been validated. Also, the pathological differences in prodromal DLB subtypes remain unclear. This study aimed to elu…
View article: Maternal immune activation followed by peripubertal stress combinedly produce reactive microglia and confine cerebellar cognition
Maternal immune activation followed by peripubertal stress combinedly produce reactive microglia and confine cerebellar cognition Open
The functional alteration of microglia arises in brains exposed to external stress during early development. Pathophysiological findings of neurodevelopmental disorders such as schizophrenia and autism spectrum disorder suggest cerebellar …
View article: An autopsy case of a 76-year-old woman with progressive supranuclear palsy initially presenting with dropped head and clinical features of pure akinesia with gait freezing
An autopsy case of a 76-year-old woman with progressive supranuclear palsy initially presenting with dropped head and clinical features of pure akinesia with gait freezing Open
We present a case of a 76-year-old woman diagnosed with pathologically confirmed progressive supranuclear palsy (PSP) with pallido-nigral-luysial atrophy, who initially presented with a dropped head. Upon her first visit, neurophysiologica…
View article: An autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology
An autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology Open
We describe an autopsy case of spinal bulbar muscular atrophy (SBMA) concomitant with multiple system atrophy (MSA). A Japanese male patient developed gait disturbance in his twenties. His brother and niece also presented with similar clin…
View article: Association of rare<i>APOE</i>missense variants with Alzheimer's disease in the Japanese population
Association of rare<i>APOE</i>missense variants with Alzheimer's disease in the Japanese population Open
Background: APOE is a major susceptibility gene for Alzheimer's disease (AD). Recent studies in Europe and the US have identified rare missense variants (RMVs) in APOE which are significantly associated with AD. However, little is known re…
View article: Ultrasensitive detection of TDP-43 and amyloid-β protein aggregates using micelle-assisted seed amplification assay
Ultrasensitive detection of TDP-43 and amyloid-β protein aggregates using micelle-assisted seed amplification assay Open
View article: Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications Open
Primary familial brain calcification (PFBC) is a genetic neurological disorder characterized by symmetric brain calcifications that manifest with variable neurological symptoms. This study aimed to explore the genetic basis of PFBC and elu…
View article: CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis Open
CHCHD2 and CHCHD10, linked to Parkinson's disease and amyotrophic lateral sclerosis-frontotemporal dementia (ALS), respectively, are mitochondrial intermembrane proteins that form a heterodimer. This study aimed to investigate the impact o…
View article: Conventional magnetic resonance imaging key features for distinguishing pathologically confirmed corticobasal degeneration from its mimics: a retrospective analysis of the J-VAC study
Conventional magnetic resonance imaging key features for distinguishing pathologically confirmed corticobasal degeneration from its mimics: a retrospective analysis of the J-VAC study Open
Purpose Due to the indistinguishable clinical features of corticobasal syndrome (CBS), the antemortem differentiation between corticobasal degeneration (CBD) and its mimics remains challenging. However, the utility of conventional magnetic…
View article: Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure
Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure Open
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare disease associated with the presence of anti-glycine receptor (GlyR) antibodies. We herein report an autopsy case of an 80-year-old man diagnosed with anti-GlyR ant…
View article: Primary Central Nervous System Vasculitis Mimicking Susac Syndrome and Multiple Sclerosis With Long-Term Remission and Spontaneous Resolution of Lesions: A Case Report
Primary Central Nervous System Vasculitis Mimicking Susac Syndrome and Multiple Sclerosis With Long-Term Remission and Spontaneous Resolution of Lesions: A Case Report Open
Primary central nervous system vasculitis (PCNSV) is an angiitis localized to the central nervous system (CNS), with various manifestations and no specific biomarkers. Herein, we report a case of PCNSV that presented with an unusual course…
View article: Maternal immune activation and peripubertal stress synergistically produce reactive microglia and confine cerebellar cognitive function.
Maternal immune activation and peripubertal stress synergistically produce reactive microglia and confine cerebellar cognitive function. Open
The functional alteration of microglia emerges in the brains exposed to extrinsic stress insults during early development. Pathophysiological findings of psychiatric disorders such as schizophrenia and autism implied a localized deficit of…
View article: Questioning the cycad theory of Kii ALS–PDC causation
Questioning the cycad theory of Kii ALS–PDC causation Open
View article: Tau filaments from amyotrophic lateral sclerosis/parkinsonism-dementia complex adopt the CTE fold
Tau filaments from amyotrophic lateral sclerosis/parkinsonism-dementia complex adopt the CTE fold Open
The amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) of the island of Guam and the Kii peninsula of Japan is a fatal neurodegenerative disease of unknown cause that is characterized by the presence of abundant filament…
View article: Degeneration of olivospinal tract in the upper cervical spinal cord of multiple system atrophy patients: Reappraisal of Helweg's triangular tract
Degeneration of olivospinal tract in the upper cervical spinal cord of multiple system atrophy patients: Reappraisal of Helweg's triangular tract Open
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…
View article: Distinct tau folds initiate templated seeding and alter the post-translational modification profile
Distinct tau folds initiate templated seeding and alter the post-translational modification profile Open
Pathological tau accumulates in the brain in tauopathies such as Alzheimer's disease, Pick's disease, progressive supranuclear palsy and corticobasal degeneration, and forms amyloid-like filaments incorporating various post-translational m…
View article: Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial <scp>3243A</scp>>G mutation
Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial <span>3243A</span>>G mutation Open
The mitochondrial (m.) 3243A>G mutation is known to be associated with various mitochondrial diseases including mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS). Their clinical symptoms have been es…
View article: Nuclear Expression of TDP-43 Is Linked with Morphology and Ubiquitylation of Cytoplasmic Aggregates in Amyotrophic Lateral Sclerosis
Nuclear Expression of TDP-43 Is Linked with Morphology and Ubiquitylation of Cytoplasmic Aggregates in Amyotrophic Lateral Sclerosis Open
The transactive response DNA-binding protein of 43 kDa (TDP-43) is a pathological protein of amyotrophic lateral sclerosis (ALS). TDP-43 pathology is characterized by a combination of the cytoplasmic aggregation and nuclear clearance of th…
View article: Preclinical Characterization of the Tau PET Tracer [<sup>18</sup>F]SNFT-1: Comparison of Tau PET Tracers
Preclinical Characterization of the Tau PET Tracer [<sup>18</sup>F]SNFT-1: Comparison of Tau PET Tracers Open
Tau PET tracers are expected to be sufficiently sensitive to track the progression of age-related tau pathology in the medial temporal cortex. The tau PET tracer N-(4-[18F]fluoro-5-methylpyridin-2-yl)-7-aminoimidazo[1,2-a…
View article: Identical tau filaments in subacute sclerosing panencephalitis and chronic traumatic encephalopathy
Identical tau filaments in subacute sclerosing panencephalitis and chronic traumatic encephalopathy Open
View article: NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment Open
View article: Tau Filaments from Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC) adopt the CTE Fold
Tau Filaments from Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC) adopt the CTE Fold Open
The amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) of the island of Guam and the Kii peninsula of Japan is a fatal neurodegenerative disease of unknown cause that is characterised by the presence of abundant filament…
View article: Identical Tau Filaments in Subacute Sclerosing Panencephalitis and Chronic Traumatic Encephalopathy
Identical Tau Filaments in Subacute Sclerosing Panencephalitis and Chronic Traumatic Encephalopathy Open
Subacute sclerosing panencephalitis (SSPE) occurs in some individuals after measles infection, following a symptom-free period of several years. It resembles chronic traumatic encephalopathy (CTE), which happens after repetitive head impac…
View article: Clinical course of pathologically confirmed corticobasal degeneration and corticobasal syndrome
Clinical course of pathologically confirmed corticobasal degeneration and corticobasal syndrome Open
The clinical presentation of corticobasal degeneration is diverse, while the background pathology of corticobasal syndrome is also heterogeneous. Therefore, predicting the pathological background of corticobasal syndrome is extremely diffi…
View article: TDP-43 Proteinopathy and Tauopathy: Do They Have Pathomechanistic Links?
TDP-43 Proteinopathy and Tauopathy: Do They Have Pathomechanistic Links? Open
Transactivation response DNA binding protein 43 kDa (TDP-43) and tau are major pathological proteins of neurodegenerative disorders, of which neuronal and glial aggregates are pathological hallmarks. Interestingly, accumulating evidence fr…
View article: Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy Open