Osamu Onodera
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View article: Association of Plasma Placental Growth Factor with White Matter Hyperintensities in Alzheimer’s Disease
Association of Plasma Placental Growth Factor with White Matter Hyperintensities in Alzheimer’s Disease Open
Autopsy studies have shown that Alzheimer’s disease (AD) often coexists with cerebrovascular injury, affecting cognitive outcomes and the effectiveness of anti-amyloid-beta (Aβ) drugs. No fluid biomarkers of cerebrovascular injury have bee…
View article: Tongue shear wave elastography for bulbar dysfunction in amyotrophic lateral sclerosis
Tongue shear wave elastography for bulbar dysfunction in amyotrophic lateral sclerosis Open
These findings indicate that shear wave elastography is a promising noninvasive tool for the quantitative assessment of tongue dysfunction in ALS.
View article: Triheptanoin treatment in ataxia-telangiectasia: the significance of innovative clinical trials targeting mitochondrial dysfunction
Triheptanoin treatment in ataxia-telangiectasia: the significance of innovative clinical trials targeting mitochondrial dysfunction Open
View article: Association of plasma placental growth factor with white matter hyperintensities in Alzheimer’s disease
Association of plasma placental growth factor with white matter hyperintensities in Alzheimer’s disease Open
Background The global prevalence of dementia, particularly Alzheimer’s disease (AD), is increasing. With the introduction of anti-β-amyloid (Aβ) antibody drugs, the accurate in vivo diagnosis of AD has become crucial. Autopsy studies have …
View article: TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model Open
TDP-43 accumulates and forms inclusions in neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) and is assumed to cause neurodegenerative processes. The morphologies and cellular and areal distributio…
View article: Late‐onset multiple system atrophy: Neuropathological features associated with slow disease progression
Late‐onset multiple system atrophy: Neuropathological features associated with slow disease progression Open
Patients with late‐onset (LO) multiple system atrophy (MSA), whose initial symptoms appear at age 75 years or older, are more common than previously assumed, but their clinicopathological characteristics remain unclear. We aimed to clarify…
View article: The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy
The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy Open
Background Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive neurodegenerative disorder caused by expanded CAG repeats in the ATN1 gene, characterized by cerebellar ataxia, seizures, tremors, and myoclonus. Although approximate…
View article: Clinical utility of CSF Aβ38 in Japanese research and clinical cohorts
Clinical utility of CSF Aβ38 in Japanese research and clinical cohorts Open
INTRODUCTION Previous studies have reported that cerebrospinal fluid (CSF) amyloid beta (Aβ42/Aβ38) performs comparably to Aβ42/Aβ40 in predicting amyloid positron emission tomography (PET) positivity in White cohorts. However, this findin…
View article: Distinct Contribution of Cerebellar Inferior Posterior Lobe to Motor Learning in Spinocerebellar Degeneration: A Deep Learning-Based Analysis
Distinct Contribution of Cerebellar Inferior Posterior Lobe to Motor Learning in Spinocerebellar Degeneration: A Deep Learning-Based Analysis Open
Background and Objective: Spinocerebellar degeneration (SCD) is characterized by cerebellar atrophy and motor learning impairment. Using CerebNet, a deep-learning algorithm for cerebellar segmentation, this study investigated the relations…
View article: Long-Term Clinical Landscapes of Spinal Hypertrophic Pachymeningitis With Anti-Neutrophil Cytoplasmic Antibody–Associated Vasculitis
Long-Term Clinical Landscapes of Spinal Hypertrophic Pachymeningitis With Anti-Neutrophil Cytoplasmic Antibody–Associated Vasculitis Open
Our findings highlight the significant pathogenic role of ANCA in spinal HP. MPO-ANCA+ spinal HP, as an organ-threatening disease, should be positioned as having unique characteristics, whether limited to the CNS or as part of a…
View article: “Chocolate Chip Sign” on Susceptibility-Weighted Imaging
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging Open
The Chocolate Chip Sign on SWI represents a novel and promising neuroimaging biomarker for HRSVD. This finding holds significant potential for facilitating early diagnosis, prompting timely genetic testing, and appropriate family screening…
View article: Redefining the Pathogenic CAG Repeat Units Threshold in <i>CACNA1A</i> for Spinocerebellar Ataxia Type 6
Redefining the Pathogenic CAG Repeat Units Threshold in <i>CACNA1A</i> for Spinocerebellar Ataxia Type 6 Open
Our findings suggest that clinical manifestation within a typical lifespan likely requires at least 19 RUs. The 19-20 RU range represents an intermediate zone where OA may influence disease likelihood. For 21-22 RUs, OA significantly affec…
View article: Early diagnosis of cryptococcal meningoencephalitis in HIV-negative patients: Integration of brain MRI and clinical findings
Early diagnosis of cryptococcal meningoencephalitis in HIV-negative patients: Integration of brain MRI and clinical findings Open
Integrating pseudocysts, absence of fever, headache, and normal CRP levels predicts early CM diagnosis, potentially improving outcomes.
View article: Questionnaire survey on CADASIL patients for members of the Japan Stroke Society
Questionnaire survey on CADASIL patients for members of the Japan Stroke Society Open
View article: A case of cerebral amyloid angiopathy with ipsilateral tau and contralateral amyloid PET uptake related to cadaveric dura mater implanted in childhood
A case of cerebral amyloid angiopathy with ipsilateral tau and contralateral amyloid PET uptake related to cadaveric dura mater implanted in childhood Open
View article: Application of blood biomarkers for the future anti‐Aβ antibody therapy in Japan
Application of blood biomarkers for the future anti‐Aβ antibody therapy in Japan Open
Background With the approval of Lecanemab in Japan following the U.S., biomarker‐based diagnosis of AD will be required in daily practice. However, PET or CSF are limited by cost, low availability, and invasiveness. In addition, frequent M…
View article: Clinical Characteristics of Progressive Supranuclear Palsy Subtypes Defined by AT(N) CSF Biomarkers
Clinical Characteristics of Progressive Supranuclear Palsy Subtypes Defined by AT(N) CSF Biomarkers Open
Background Progressive supranuclear palsy (PSP) may show concomitant neuropathological findings such as Alzheimer's disease (AD)‐related pathologies. Recent advances in CSF biomarkers enabled the estimation of neuropathological changes in …
View article: Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population Open
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic nervous system dysfunction and cerebellar ataxia or parkinsonism. Recently, expanded GAA repeats (≥250 repeat units) in intron 1 of FGF14 have been sh…
View article: L-arginine in patients with spinocerebellar ataxia type 6: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
L-arginine in patients with spinocerebellar ataxia type 6: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial Open
Japan Agency for Medical Research and Development and Health Labour Sciences Research Grant, Japan.
View article: SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan Open
Our findings suggest that SMN2 copy number reduction may adversely affect the onset and prognosis of MND, including ALS and LMND, in Japanese.
View article: Case report: Progressive multifocal leukoencephalopathy co-occurring with neurosarcoidosis: early brain biopsy and appropriate therapy for PML resulted in a favorable prognosis
Case report: Progressive multifocal leukoencephalopathy co-occurring with neurosarcoidosis: early brain biopsy and appropriate therapy for PML resulted in a favorable prognosis Open
Progressive multifocal leukoencephalopathy (PML) is a rare central nervous system disease caused by JC virus (JCV) infection. Human immunodeficiency virus (HIV) infection is the greatest risk factor for PML. Other immunological diseases, i…
View article: A case of isolated dystextia due to subcortical infarction: a novel condition of digital device era
A case of isolated dystextia due to subcortical infarction: a novel condition of digital device era Open
The left dorsolateral frontal cortex may be related to Romaji conversion in Japanese individuals. Therefore, diaschisis of the left dorsolateral frontal cortex due to subcortical lesions may have impaired Romaji conversion, leading to dyst…
View article: Expansive spatial pattern of Aß deposition in patients with cerebral amyloid angiopathy: a large-scale and surface-to-depth analysis
Expansive spatial pattern of Aß deposition in patients with cerebral amyloid angiopathy: a large-scale and surface-to-depth analysis Open
Sporadic cerebral amyloid angiopathy (CAA) is a common neurodegenerative disorder characterized by accumulation of amyloid β (Aβ) in the cerebrovascular wall, often coexisting with Alzheimer’s disease. CAA is thought to be caused by impair…
View article: Qki5 safeguards spinal motor neuron function by defining the motor neuron-specific transcriptome via pre-mRNA processing
Qki5 safeguards spinal motor neuron function by defining the motor neuron-specific transcriptome via pre-mRNA processing Open
Many RNA-binding proteins (RBPs) are linked to the dysregulation of RNA metabolism in motor neuron diseases (MNDs). However, the molecular mechanisms underlying MN vulnerability have yet to be elucidated. Here, we found that such an RBP, Q…
View article: ASO-enhancement of<i>TARDBP</i>exitron splicing mitigates TDP-43 proteinopathies
ASO-enhancement of<i>TARDBP</i>exitron splicing mitigates TDP-43 proteinopathies Open
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are fatal neurodegenerative diseases characterized by pathological aggregation and nuclear functional loss of TDP-43 1,2 . Current therapies inadequately address this core…
View article: UCP2 polymorphisms, daily step count, and number of teeth associated with all-cause mortality risk in Sado City: A hospital-based cohort study
UCP2 polymorphisms, daily step count, and number of teeth associated with all-cause mortality risk in Sado City: A hospital-based cohort study Open
The effects of UCP2 polymorphisms on the association between daily step count or the number of teeth and all-cause mortality were not statistically significant. In females, UCP2 polymorphisms were significantly associated with all-cause mo…
View article: Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans Open
View article: The Japan <scp>MSA</scp> registry: A multicenter cohort study of multiple system atrophy
The Japan <span>MSA</span> registry: A multicenter cohort study of multiple system atrophy Open
Background Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure and various motor symptoms. While MSA‐C (cerebellar type) predominates in East Asia, MSA‐P (parkinsonian type) predominates in Euro…
View article: A case of isolated dystextia due to subcortical infarction: A novel condition of digital device era
A case of isolated dystextia due to subcortical infarction: A novel condition of digital device era Open
Background: In recent years, cases of dystextia (texting disabilities) and dystypia (typing disabilities) have been reported. However, reports describing isolated dystextia without aphasia or other cognitive impairments are rare, and the d…
View article: Cerebellar compensation: a case of aphasia due to cerebellar hemorrhage
Cerebellar compensation: a case of aphasia due to cerebellar hemorrhage Open