34 Result(s)
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Article
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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Article
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients
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Article
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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Article
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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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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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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Article
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 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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Anti-Sez6l2 antibody detected in a patient with immune-mediated cerebellar ataxia inhibits complex formation of GluR1 and Sez6l2
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Article
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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Open AccessA 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was ...
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Article
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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Article
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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Article
Open AccessHyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy
Hyperintense putaminal rim (HPR) is an important magnetic resonance imaging (MRI) sign for multiple system atrophy (MSA). Recent studies have suggested that it can also be observed in normal subjects at 3 T. W...
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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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Article
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...
