35 Result(s)
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Article
Ichiro Yabe
Neurosciences
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Article
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients
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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 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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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 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...
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Open AccessValidity and reliability of a pilot scale for assessment of multiple system atrophy symptoms
Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared ...
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Comparison of Different Symptom Assessment Scales for Multiple System Atrophy
To identify the most sensitive scale for use in clinical trials on multiple system atrophy (MSA), a short and sensitive scale is needed for MSA clinical trials. Potential candidates are the Unified MSA Rating ...
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Epidemiology of Multiple System Atrophy in Hokkaido, the Northernmost Island of Japan
Multiple system atrophy (MSA) is an intractable neurodegenerative disorder that is characterized by various combinations of autonomic failure, cerebellar ataxia, and parkinsonism. We conducted an epidemiologic...
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Open AccessIdentification of plasma microRNAs as a biomarker of sporadic Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease, which leads to the loss of upper and lower motor neurons, with a currently unknown etiology. Specific biomarkers could help in early de...
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Usefulness of 11C-methionine-positron emission tomography for the diagnosis of progressive multifocal leukoencephalopathy
Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the les...
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Identification of anti-Sez6l2 antibody in a patient with cerebellar ataxia and retinopathy
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3D neuromelanin-sensitive magnetic resonance imaging with semi-automated volume measurement of the substantia nigra pars compacta for diagnosis of Parkinson’s disease
Neuromelanin-sensitive MRI has been reported to be used in the diagnosis of Parkinson’s disease (PD), which results from loss of dopamine-producing cells in the substantia nigra pars compacta (SNc). In this st...
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Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people
Previous studies have identified several genetic loci associated with the development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIB...
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Clinical features of spinal cord sarcoidosis: analysis of 17 neurosarcoidosis patients
The diagnosis of neurosarcoidosis is often difficult; the imaging signs of spinal cord sarcoidosis sometimes mimic those of cervical spondylotic myelopathy, which is common in elderly persons. We examined the ...
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Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism
Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia a...
