51 Result(s)
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Article
Ichiro Yabe
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Significant improvement in paraneoplastic neurological syndromes without identifiable anti-neural antibodies in patients with breast cancer after breast surgery
Paraneoplastic neurological syndromes (PNS) are neurological disorders that occur in close association with tumors without direct metastasis or invasion of the tumors and in which anti-neural antibodies may be...
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FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients
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Open AccessDynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
Better understanding of the earliest molecular pathologies of all neurodegenerative diseases is expected to improve human therapeutics. We investigated the earliest molecular pathology of spinocerebellar ataxi...
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Differentiation of speech in Parkinson’s disease and spinocerebellar degeneration using deep neural networks
Assessing dysarthria features in patients with neurodegenerative diseases helps diagnose underlying pathologies. Although deep neural network (DNN) techniques have been widely adopted in various audio processi...
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A retrospective study of autoimmune cerebellar ataxia over a 20-year period in a single institution
It is important to differentiate autoimmune cerebellar ataxia (ACA) from neurodegenerative CA, but this is sometimes difficult. We performed a retrospective study in a single institution in Japan over a 20-yea...
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Current status and challenges of neurosurgical procedures for patients with myelomeningocele in real-world Japan
Little is known about the real-world status of neurosurgical treatment of myelomeningocele patients.
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Open AccessGait video-based prediction of unified Parkinson’s disease rating scale score: a retrospective study
The diagnosis of Parkinson’s disease (PD) and evaluation of its symptoms require in-person clinical examination. Remote evaluation of PD symptoms is desirable, especially during a pandemic such as the coronavi...
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Open AccessGenetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases. In the present study, we found a 5-octapeptide repea...
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A diagnostic index based on quantitative susceptibility map** and voxel-based morphometry may improve early diagnosis of Alzheimer’s disease
Voxel-based morphometry (VBM) is widely used to quantify the progression of Alzheimer’s disease (AD), but improvement is still needed for accurate early diagnosis. We evaluated the feasibility of a novel diagn...
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Open AccessRandomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
To evaluate the efficacy and safety of perampanel in patients with sporadic amyotrophic lateral sclerosis (SALS).
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Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system with a poor prognosis and is primarily caused by JC virus (JCV) with a mutation called prototype. We en...
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Open AccessCorrelation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series
Weight gain (WG) is a frequently reported side effect of subthalamic deep brain stimulation; however, the underlying mechanisms remain unclear. The active contact locations influence the clinical outcomes of s...
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Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family
Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characte...
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Open AccessImpact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer
Clinical targeted sequencing allows for the selection of patients expected to have a better treatment response, and reveals mechanisms of resistance to molecular targeted therapies based on actionable gene mut...
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Open AccessThe disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study
Disease sites of female genital tract cancers of BRCA1/2-associated hereditary breast and ovarian cancer (HBOC) are less understood than non-hereditary cancers. We aimed to elucidate the disease site distribution...
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The Responsiveness of Triaxial Accelerometer Measurement of Gait Ataxia Is Higher than That of the Scale for the Assessment and Rating of Ataxia in the Early Stages of Spinocerebellar Degeneration
We reported previously that the average medial–lateral gait amplitude while walking on a straight path determined using triaxial accelerometers fixed on the middle of the upper back may be a quantitative and c...
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Open AccessIdentification of plasma microRNA expression changes in multiple system atrophy and Parkinson’s disease
MicroRNAs (miRNAs) are endogenous small (18–25 nt), single-stranded, non-coding RNAs that play key roles in post-transcriptional gene expression regulation. The expression profiles of miRNAs in biofluids and t...
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Anti-Sez6l2 antibody detected in a patient with immune-mediated cerebellar ataxia inhibits complex formation of GluR1 and Sez6l2
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Open AccessMutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like sy...
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Open AccessGenomic copy number variation analysis in multiple system atrophy
Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). CNVs affect gene expression by altering the genome structure and transposable ele...
