25 Result(s)
within
Masashi Aoki
Neurosciences
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Article
Open AccessCase Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
This report describes an adult case of Poretti–Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was refe...
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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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Open AccessUpregulated complement receptors correlate with Fc gamma receptor 3A-positive natural killer and natural killer-T cells in neuromyelitis optica spectrum disorder
Inhibition of terminal complement in neuromyelitis optica spectrum disorder (NMOSD) using eculizumab helps prevent relapses, but the exact mechanism of action of the drug remains unclear. Similarly, genetic va...
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Open AccessRelapse activity in the chronic phase of anti-myelin-oligodendrocyte glycoprotein antibody-associated disease
The patterns of relapse and relapse-prevention strategies for anti-myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are not completely investigated. We compared the patterns of relapse i...
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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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High prevalence of serum anti-NH2-terminal of α-enolase antibodies in patients with multiple system atrophy and corticobasal syndrome
Hashimoto’s encephalopathy with serum anti-NH2-terminal of α-enolase (NAE) antibodies occasionally displays clinical symptoms such as cerebellar ataxia and parkinsonism. We studied the frequency of anti-NAE antib...
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Impact of comorbid Sjögren syndrome in anti-aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders
Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune neurological diseases of the central nervous system, which are characterized by the presence of serum anti-aquaporin-4 autoantibodies (AQP4-IgG). ...
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Open AccessThe human central nervous system discharges carbon dioxide and lactic acid into the cerebrospinal fluid
The central nervous system was previously thought to draw oxygen and nutrition from the arteries and discharge carbon dioxide and other metabolic wastes into the venous system. At present, the functional role ...
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Article
Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent
Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease for which no effective treatment is available, despite decades of research into SOD1-mutant familial ALS (FALS). The majority of ALS pat...
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Open AccessSystemic overexpression of SQSTM1/p62 accelerates disease onset in a SOD1H46R-expressing ALS mouse model
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by a selective loss of upper and lower motor neurons. Recent studies have shown that mutations in SQSTM1 are linked to ...
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Open AccessSeverely exacerbated neuromyelitis optica rat model with extensive astrocytopathy by high affinity anti-aquaporin-4 monoclonal antibody
Neuromyelitis optica (NMO), an autoimmune astrocytopathic disease associated with anti-aquaporin-4 (AQP4) antibody, is characterized by extensive necrotic lesions preferentially involving the optic nerves and ...
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A case of steroid-responsive MADSAM with late appearance of a partial conduction block in the forearm
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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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Open AccessPresence of six different lesion types suggests diverse mechanisms of tissue injury in neuromyelitis optica
Neuromyelitis optica (NMO) is an autoimmune disease targeting aquaporin 4 (AQP4), localized mainly at the astrocytic foot processes. Loss of AQP4 and glial fibrillary acidic protein (GFAP) was reported, but th...
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Anti-voltage-gated potassium channel antibody is associated with chronic autonomic and sensory neuropathy
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Article
Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation
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Open AccessSuppression of dynamin GTPase decreases α-synuclein uptake by neuronal and oligodendroglial cells: a potent therapeutic target for synucleinopathy
The intracellular deposition of misfolded proteins is a common neuropathological hallmark of most neurodegenerative disorders. Increasing evidence suggests that these pathogenic proteins may spread to neighbor...
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Article
Increase in number of sporadic inclusion body myositis (sIBM) in Japan
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Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease
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Dorsal-roots enhancement and Wallerian degeneration of dorsal cord in the patient of acute sensory ataxic neuropathy
