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Article
Open AccessComprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive multisystem neurologic disorder caused by biallelic intronic repeats in RFC1. Although the phenotype of CANVAS h...
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Article
Open AccessInvestigation of non-motor symptoms in patients with amyotrophic lateral sclerosis
[Objective] Few studies have comprehensively investigated the non-motor symptoms of amyotrophic lateral sclerosis (ALS). We aimed to investigate this aspect of ALS. [Methods] We held a nationwide webinar, titl...
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Article
Open AccessEfficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...
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Article
Open AccessLong-term outcomes after surgery to prevent aspiration for patients with amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons selectively. In particular, weakness in respiratory and swallowing muscles occasionally causes aspirati...
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Article
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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Article
Open AccessThe updated retrospective questionnaire study of sporadic inclusion body myositis in Japan
Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, ...
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Article
Open AccessInterstitial pneumonia and other adverse events in riluzole-administered amyotrophic lateral sclerosis patients: a retrospective observational study
Riluzole is the only approved oral drug for amyotrophic lateral sclerosis (ALS). We performed a retrospective study including ALS patients treated with riluzole, focusing on adverse events.
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Article
Open AccessPhase I clinical trial results of aceneuramic acid for GNE myopathy in Japan
GNE myopathy (distal myopathy with rimmed vacuoles) is a rare intractable muscle disease caused by the mutations in GNE gene, with no therapeutic agents at present. The mutations in GNE (UDP-N-acetylglucosamine 2...
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Article
Open AccessMulticenter questionnaire survey for sporadic inclusion body myositis in Japan
Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiolo...
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Article
ITIH4 and Gpx3 are potential biomarkers for amyotrophic lateral sclerosis
The diagnosis of amyotrophic lateral sclerosis (ALS) is difficult due to lack of definitive biomarkers. Our aim was to identify characteristic serum protein patterns that could provide candidate biomarkers for...
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Article
Impairment of axonal transport in the axon hillock and the initial segment of anterior horn neurons in transgenic mice with a G93A mutant SOD1 gene
Impaired axonal transport of the fast or slow component has been reported in patients with sporadic amyotrophic lateral sclerosis (ALS), animal models for ALS, and familial ALS-linked mutant Cu/Zn superoxide d...
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Article
Ultrastructural study of aggregates in the spinal cord of transgenic mice with a G93A mutant SOD1 gene
The ultrastructural features of SOD1-positive aggregates were determined to clarify whether these aggregates are associated with the pathogenesis of SOD1 mutant mice. We examined the spinal cord of transgenic ...
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Article
Ultrastructural study of mitochondria in the spinal cord of transgenic mice with a G93A mutant SOD1 gene
The purpose of this study was to examine mitochondrial changes in the spinal cord of transgenic mice of a relatively low transgenic copy number (gene copy 10) expressing a G93A mutant human Cu/Zn superoxide di...
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Article
Slow component of axonal transport is impaired in the proximal axon of transgenic mice with a G93A mutant SOD1 gene
The purpose of this study was to determine whether slow axonal transport of neurofilaments (NFs) is impaired in the spinal cord of G93A Cu/Zn superoxide dismutase (SOD1) mutant transgenic mice expressing a rel...
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Article
Neuronal nitric oxide synthase (nNOS) immunoreactivity in the spinal cord of transgenic mice with G93A mutant SOD1 gene
Immunohistochemical and quantitative analyses were used to examine the evolution of neuronal nitric oxide synthase (nNOS) with time in spinal motor neurons of transgenic mice with a G93A mutant Cu/Zn superoxi...
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Article
Expressions of caspase-3, Tunel, and Hsp72 immunoreactivities in cultured spinal cord neurons of rat after exposure to glutamate, nitric oxide, or peroxynitrite
Although excitotoxic and oxidative stress play important roles in spinal neuron death, the exact mechanisms are not fully understood. We examined cell damage of primary culture of 11-day-old rat spinal cord by...
