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Article
Open AccessSpinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
Spinocerebellar ataxia (SCA) type 17-digenic TBP/STUB1 disease (SCA17-DI) has been recently segregated from SCA17, caused by digenic inheritance of two gene mutations – intermediate polyglutamine-encoding CAG/...
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Article
A novel auricular prosthesis which incorporates a cartilage conduction hearing aid based on 3D data processing technique: a preclinical evaluation
To achieve the challenging goal of simultaneously improving aesthetics and auditory function in the treatment of microtia, we developed an auricular prosthesis incorporating a cartilage conduction hearing aid ...
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Article
Open AccessSliding layer estimation of shallow landslides on Aso volcanic mountains in Japan based on tephra layer-physical properties of soil
Shallow landslides occur frequently on the Aso volcanic mountains. The soil materials on the Aso volcanic mountains consist of tephra layers formed by volcanic activities. This study is aimed to specify the ph...
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Article
Open AccessHopkins syndrome following the first episode of bronchial asthma associated with enterovirus D68: a case report
Hopkins syndrome (HS) is a rare disorder presenting with acute flaccid paralysis of the limbs following an asthma attack. Neurologists encounter a diagnostic challenge if patients without a history of bronchia...
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Chapter and Conference Paper
Expressive Small Clauses in Japanese
This paper modifies and extends Potts and Roeper’s (2006) analysis of what they call Expressive Small Clauses, simple uses of epithets such as You fool!, to analogous phrases in Japanese. The original Potts and ...
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Article
Open AccessMineralogical study on volcanic ash of the eruption on September 27, 2014 at Ontake volcano, central Japan: correlation with porphyry copper systems
The volcanic ash of the eruption on September 27, 2014 at Ontake volcano consists mostly of altered rock fragments. The ash contains partly altered volcanic rock fragments consisting of primary igneous mineral...
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Article
Open AccessMorvan’s syndrome and myasthenia gravis related to familial Mediterranean fever gene mutations
We present the first case of Morvan’s syndrome (MoS) and myasthenia gravis (MG) related to familial Mediterranean fever (FMF) gene mutations.
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Article
Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease
Nasu-Hakola disease (NHD) is a form of presenile dementia associated with sclerosing leukoencephalopathy and polycystic lipomembranous osteodysplasia. This extremely rare inherited disease is caused by mutatio...
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Article
Open AccessExtensive dysregulations of oligodendrocytic and astrocytic connexins are associated with disease progression in an amyotrophic lateral sclerosis mouse model
Non-cell-autonomous motor neuronal death is suggested in a mutant Cu/Zn superoxide dismutase 1 (mSOD1)-mediated amyotrophic lateral sclerosis (ALS) model, in which glial cells play significant roles in disease...
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Article
Random Phage Display-Based Screening of Peptides that Bind to Botulinum Neurotoxin Binding Protein, Nontoxic Nonhemagglutinin
Botulinum neurotoxin (BoNT) binds to nontoxic nonhemagglutinin (NTNHA) protein in a pH-dependent manner, and yields the protease-resistant BoNT/NTNHA complex. Here, we screened short peptides that bind to the ...
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Article
Tectonic shortening and coeval volcanism during the Quaternary, Northeast Japan arc
The Northeast Japan arc, a mature volcanic arc with a back-arc marginal basin (Japan Sea), is located on a convergent plate boundary along the subducting Pacific plate and the overriding North American plate. ...
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Article
Do genetic variants in the SPINK1 gene affect the level of serum PSTI?
The serine protease inhibitor Kazal type 1 (SPINK1), also known as pancreatic secretory trypsin inhibitor (PSTI), is a peptide secreted by pancreatic acinar cells. Genetic studies have shown an association bet...
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Article
A possible variant of neuro-Behçet disease presenting chronic progressive ataxia without mucocutaneo-ocular symptoms
Behçet disease (BD) is a chronic relapsing multisystem disorder of unknown etiology, which preferentially affects the oral and genital mucous membranes, skin, and eyes. Neurological involvement is one of the m...
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Article
Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation
We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a novel missense mutation in exon 4 (Asp101Tyr) of the Cu/Zn superoxide dismutase (SOD1) gene. The disease started...
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Article
α-Synuclein pathology affecting Bergmann glia of the cerebellum in patients with α-synucleinopathies
We carried out immunohistochemical examinations of the brains (cerebella) of patients who had suffered from Parkinson's disease (PD), diffuse Lewy body disease (DLBD) or multiple system atrophy (MSA), using an...
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Article
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex
Bilateral periventricular nodular heterotopia (BPNH) is a neuronal migration disorder that is characterized by subependymal nodules of gray matter. Recently, a causative gene for BPNH, filamin 1, has been identi...
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Article
Pick's disease: α- and β-synuclein-immunoreactive Pick bodies in the dentate gyrus
Recent studies have shown that neurofibrillary tangles frequently coexist with α-synuclein (α-S)-positive fibrillary inclusions in the limbic system in Alzheimer's disease. To elucidate whether α-, β- and γ-S...
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Article
Cerebellar cortical tau pathology in progressive supranuclear palsy and corticobasal degeneration
Immunohistochemical localization of tau in the cerebellar cortex was carried out using a mouse monoclonal antibody against phosphorylation-dependent tau (AT8) in brain tissue (cerebellum) from 13 patients wit...
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Article
Aprosencephaly: histopathological features of the rudimentary forebrain and retina
Aprosencephaly/atelencephaly is an extremely rare central nervous system defect of the human fetus, which has been attributed to an encephaloclastic process. We report here the histopathological features of t...
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Article
Expression of calbindin D-28k and parvalbumin in cerebral cortical dysgenesis induced by administration of ethylnitrosourea to rats at the stage of neurogenesis
It has been reported that transplacental administration of ethylnitrosourea (ENU), which is cytotoxic immediately after administration, to rat fetuses at the neurogenesis stage induces dysgenesis of the cereb...
