記述言語：英語   掲載種別：研究論文（学術雑誌）  

Spastic paraplegia type 79 (SPG79) is a rare form of hereditary spastic paraplegia caused by variants in ubiquitin C-terminal hydrolase L1 (UCHL1). SPG79B, an early-onset autosomal recessive subtype, frequently presents with lower motor neuron involvement, with myokymia as a characteristic feature. In contrast, SPG79A, a late-onset autosomal dominant form, rarely shows lower motor neuron signs, and myokymia has not previously been reported. We report the first documented case of myokymia in SPG79A. A 74-year-old man with an 8-year history of progressive gait disturbance underwent detailed evaluation. The patient exhibited slowly progressive spastic paraplegia and impaired proprioception in the lower extremities. Myokymia was observed in the extremities and trunk. Needle electromyography revealed spontaneous, repetitive discharges of motor unit potentials consistent with myokymia. Genetic testing identified a heterozygous nonsense variant in UCHL1 (c.532C > T: p. Arg178*), confirming a diagnosis of SPG79A. The pathogenesis of both SPG79A and SPG79B likely involves partial loss of UCHL1 function, explaining their overlapping phenotypes. Symptom variability may reflect the extent of residual UCHL1 function, with SPG79B showing broader features, including myokymia. This case suggests that myokymia, though rare in hereditary spastic paraplegias, can also occur in SPG79A and may serve as a diagnostic clue.

DOI： 10.1016/j.ensci.2025.100603

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掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.cnp.2026.01.003

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Cancer-associated ischemic stroke has a high recurrence rate. Subcutaneous (SC) heparin therapy is used to prevent this recurrence, but its long-term efficacy remains unclear. This study evaluated the 180-day effects, safety, and sustainability of SC heparin treatment in patients with cancer-associated ischemic stroke. METHODS: Patients with cancer-associated ischemic stroke who were treated with unfractionated heparin were retrospectively investigated. Clinical data, such as D-dimer levels, heparin dosing, and cancer-related information, were collected. Outcomes assessed over 180 days included recurrent cancer-associated thrombosis (CAT), mortality, adverse events, and treatment discontinuation. RESULTS: Five of 100 patients treated with SC heparin experienced recurrence of CAT (ischemic stroke, four patients; pulmonary embolism, one patient). The cumulative recurrence rates of CAT were 2.4 % at 30 days and 7.7 % at 90 days, with no recurrence observed thereafter. At 180 days of follow-up, 19 patients survived without CAT recurrence and one patient was completely cured of cancer through surgery, while 29 patients died of cancer without recurrence of CAT. This finding suggested that approximately half of the patients benefited from SC heparin therapy. Adverse events such as major bleeding were observed in 16 patients, leading to the discontinuation of treatment. Additionally, treatment was discontinued for various reasons such as psychological distress in 30 patients. D-dimer levels at the time of the initial cancer-associated ischemic stroke tended to be higher in patients with recurrence than in those without recurrence, but this was not significant. No recurrence of CAT was observed in patients with pancreatic cancer, likely due to early cancer-related mortality. CAT recurrence and adverse event rates were not significantly different by cancer stage (stage IV vs. other stages) or between the fixed dose and adjusted dose heparin groups. CONCLUSIONS: SC heparin therapy effectively maintained a low recurrence rate of CAT for 180 days, and may have contributed to preserving functionality and quality of life of the patients. Recurrence and adverse events were primarily observed within the first 90 days. However, challenges related to long-term SC heparin therapy remain. To improve treatment sustainability, comprehensive palliative care that addresses physical discomfort and psychological distress is essential. This study suggests the potential long-term benefits and limitations of SC heparin therapy and highlights the need for future long-term prospective studies comparing this therapy with alternative anticoagulation strategies.

DOI： 10.1016/j.jocn.2025.111462

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Purpose Fenfluramine has received approval for treating seizures in individuals with Lennox-Gastaut syndrome (LGS). Nonetheless, Phase III trials mainly focused on children, leaving limited information regarding its effectiveness and safety in adults. This case series aimed to elucidate these factors in adult patients. Methods This case series examined the clinical progression of adult patients diagnosed with LGS who received fenfluramine at our clinic following its approval in Japan in March 2024, extending through February 2025. Fenfluramine was administered to those experiencing drop attacks and generalized slow spike-and-wave complexes, fulfilling the conventional diagnostic criteria for LGS, and their responses to treatment were analyzed. Results This case series involved nine adult patients aged 18-49. All patients demonstrated efficacy, with seven (78%) experiencing at least a 50% reduction in seizure frequency. No one needed maintenance doses above the recommended starting minimum of 0.2 mg/kg/day, and five patients (56%) achieved seizure control with even lower doses. Remarkably, three patients who did not meet the latest 2022 diagnostic criteria also demonstrated positive responses. Adverse events were reported in five patients (56%), primarily including somnolence, diarrhea, and anorexia. In these situations, a dose reduction to half was necessary, yet efficacy was maintained. Conclusion Low-dose fenfluramine may effectively manage seizures in adult patients with LGS while reducing adverse effects. This case series provides a growing body of real-world data regarding the use of fenfluramine in this patient population.

DOI： 10.7759/cureus.87250

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掲載種別：研究論文（学術雑誌）   出版者・発行元：Wiley  

ABSTRACT

Objective

Spinal muscular atrophy (SMA) is a genetic disease caused by the degeneration of spinal motor neurons due to a deficiency in survival motor neuron protein (SMN) protein, leading to progressive muscle atrophy and weakness. nusinersen, an antisense oligonucleotide that increases SMN protein expression, has shown effectiveness in both pediatric and adult patients with SMA. While it is administrated every 4 months during the maintenance period in most countries, the dosing interval is 6 months in Japan. The impact of this dosing difference on long‐term outcomes is not fully understood. This study evaluates the long‐term efficacy of the 6‐month dosing protocol of nusinersen in adult SMA patients.

Methods

We assessed 14 adult patients treated with nusinersen every 6 months over a period of up to 39 months using the Hammersmith Function Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). The results were compared with those from a recent cohort study of adult SMA patients in Europe.

Results

For ambulatory patients, the mean changes in HFMSE scores at 15, 27, and 39 months were 6.7, 8.3, and 8.0 points, respectively. These results were similar to those observed in the European cohort. In contrast, for nonambulatory patients, the mean changes in HFSME scores were –0.3, –1.4, and –1.3 points, and the mean changes in RULM scores were 2.0, 0.5, and 1.0 points at the same time points. These results were generally less favorable compared to the European cohort but did not reach clinically meaningful deterioration.

Discussion

The findings of this study suggest that the 6‐month nusinersen dosing protocol provides sustained long‐term benefits for ambulatory adult SMA patients. For nonambulatory patients, the 6‐month protocol appears less effective than the 4‐month protocol. We believe that future nusinersen treatment strategies for adult SMA patients should be flexible, with adjustments based on disease severity. In particular, increasing the dosing frequency and/or dosage in nonambulatory patients may lead to greater improvements.

DOI： 10.1002/brb3.70528

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

INTRODUCTION: Extrapolated reference values (E-Ref) procedure is a new method for determining the cutoff value without collecting the control data. We tried to apply this method to determine the cutoff value for the distal motor latency of the median nerve (median DML). During this process, we found two pitfalls of the E-Ref method. First, the E-Ref procedure did not correctly work when the DML values measured with 0.1 ms accuracy frequently took on tie values. Second, the result was influenced by the proportion of abnormal values. This study investigated these issues. METHODS: Data of the median DML were extracted from our laboratory database. To solve the problem of tie values, we tried a wider post-smoothing window in the original E-Ref method. We also devised a modified method conducting pre-smoothing. To see the effect of the proportion of abnormal data, we simulated many datasets having different proportion of abnormal data. RESULTS: In total, 1016 DML values were identified. False deflections due to tie values were often identified as the E-Ref point using the original methods even using a wider window, resulting in unrealistically low values. Modified method was free from this drawback. For all methods, the E-Ref value increased as the proportion of abnormal values increased. DISCUSSION: The problem of tie values, a pitfall of the E-Ref method, might be solved by pre-smoothing the data. The E-Ref value is influenced by the proportion of the normal data, and datasets containing less than 20% abnormal data may achieve appropriate results.

DOI： 10.1002/mus.28338

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掲載種別：研究論文（学術雑誌）  

DOI： 10.1155/ane/2203350

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掲載種別：研究論文（学術雑誌）  

DOI： 10.3988/jcn.2025.0103

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Pathogenic variants in Gap junction protein beta 1 (GJB1), which encodes Connexin 32, are known to cause X-linked Charcot-Marie-Tooth disease (CMTX), the second most common form of CMT. CMTX presents with the following five central nervous systems (CNS) phenotypes: subclinical electrophysiological abnormalities, mild fixed abnormalities on neurological examination and/or imaging, transient CNS dysfunction, cognitive impairment, and persistent CNS manifestations. CASE PRESENTATION: A 40-year-old Japanese male showed CNS symptoms, including nystagmus, prominent spastic paraplegia, and mild cerebellar ataxia, accompanied by subclinical peripheral neuropathy. Brain magnetic resonance imaging revealed hyperintensities in diffusion-weighted images of the white matter, particularly along the pyramidal tract, which had persisted since childhood. Nerve conduction assessment showed a mild decrease in motor conduction velocity, and auditory brainstem responses beyond wave II were absent. Peripheral and central conduction times in somatosensory evoked potentials elicited by stimulation of the median nerve were prolonged. Genetic analysis identified a hemizygous GJB1 variant, NM_000166.6:c.520C > T p.Pro174Ser. CONCLUSIONS: The patient in the case described here, with a GJB1 p.Pro174Ser variant, presented with a unique CNS-dominant phenotype, characterized by spastic paraplegia and persistent extensive leukoencephalopathy, rather than CMTX. Similar phenotypes have also been observed in patients with GJC2 and CLCN2 variants, likely because of the common function of these genes in regulating ion and water balance, which is essential for maintaining white matter function. CMTX should be considered within the spectrum of GJB1-related disorders, which can include patients with predominant CNS symptoms, some of which can potentially be classified as a new type of spastic paraplegia.

DOI： 10.1186/s12883-024-03823-9

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

OBJECTIVE: It is generally believed that the decremental response in repetitive nerve stimulation (RNS) stabilizes at the fourth or fifth response. We have a preliminary impression that the decremental response approaches a plateau earlier in proximal muscles than in distal muscles. We investigated the speed of the completion of the decremental response in different muscles. METHODS: The "decrement completion ratio (DCR)" in the second or third response (DCR2 or DCR3) was defined as the ratio of the decremental percentage of the second or third response to that of the fourth response. Patients showing more than 10% decremental response both in the abductor pollicis (APB) and deltoid muscles were retrospectively extracted from our EMG database. The DCR2 and DCR3 were compared between two muscles in patients with myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS). RESULTS: Identified subjects consisted of 11patients with MG and 11 patients with ALS. Multiple regression analysis revealed that only the difference of muscle influenced on DCR2 and DCR3, with no contribution from the different disorder (MG or ALS) or the initial amplitude of the compound muscle action potential (CMAP). Both DCR2 and DCR3 were significantly higher in deltoid than in APB. In ALS, the normalized CMAP amplitude was not different between APB and deltoid whereas the decremental percentage was significantly higher in deltoid, suggesting a lower safety factor of the neuromuscular transmission in proximal muscles. CONCLUSIONS: The decremental response completed more rapidly in deltoid than in APB which may be related to the lower safety factor also documented by this study. SIGNIFICANCE: Unexpected early completion of the decrement such as at the second response in RNS is not a technical error but may be an extreme of the rapid completion in deltoid, a proximal muscle.

DOI： 10.1016/j.cnp.2024.06.003

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG/ACAGG repeat expansion (AAGGG-exp/ACAGG-exp) in RFC1. The recent identification of patients with CANVAS exhibiting compound heterozygosity for AAGGG-exp and truncating variants supports the loss-of-function of RFC1 in CANVAS patients. We investigated the pathological changes in 2 autopsied patients with CANVAS harboring biallelic ACAGG-exp and AAGGG-exp. RNA fluorescence in situ hybridization of the 2 patients revealed CCTGT- and CCCTT-containing RNA foci, respectively, in neuronal nuclei of tissues with neuronal loss. Our findings suggest that RNA toxicity may be involved in the pathogenesis of CANVAS. ANN NEUROL 2023.

DOI： 10.1002/ana.26848

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：Movement Disorder Society of Japan (MDSJ)  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower extremities. To date, a total of 88 types of SPG are known. To diagnose HSP, multiple technologies, including microarray, direct sequencing, multiplex ligation-dependent probe amplification, and short-read next-generation sequencing, are often chosen based on the frequency of HSP subtypes. Exome sequencing (ES) is commonly used. We used ES to analyze ten cases of HSP from eight families. We identified pathogenic variants in three cases (from three different families); however, we were unable to determine the cause of the other seven cases using ES. We therefore applied long-read sequencing to the seven undetermined HSP cases (from five families). We detected intragenic deletions within the SPAST gene in four families, and a deletion within PSEN1 in the remaining family. The size of the deletion ranged from 4.7 to 12.5 kb and involved 1-7 exons. All deletions were entirely included in one long read. We retrospectively performed an ES-based copy number variation analysis focusing on pathogenic deletions, but were not able to accurately detect these deletions. This study demonstrated the efficiency of long-read sequencing in detecting intragenic pathogenic deletions in ES-negative HSP patients.

DOI： 10.1038/s10038-023-01170-0

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

This study aimed to test our hypothesis that the cerebellum plays an important role in the generation of the optical-geometric illusion known as the Poggendorff illusion, the mechanism of which has been explained by accumulated experience with natural scene geometry. A total of 79 participants, comprising 28 patients with isolated cerebellar stroke, 27 patients with isolated cerebral stroke and 24 healthy controls, performed Poggendorff illusion tasks and 2 different control tasks. We also investigated core brain regions underpinning changes in the experience of the illusion effect using multivariate lesion-symptom mapping. Our results indicate that patients with isolated cerebellar stroke were significantly less likely to experience the Poggendorff illusion effect than patients with isolated cerebral stroke or healthy controls (74.6, 90.5 and 89.8%, respectively; F(2,76) = 6.675, P = 0.002). However, there were no inter-group differences in the control tasks. Lesion-symptom mapping analysis revealed that the brain lesions associated with the reduced frequency of the Poggendorff illusion effect were mainly centred on the right posteromedial cerebellar region, including the right lobules VI, VII, VIII, IX and Crus II. Our findings demonstrated, for the first time, that patients with cerebellar damage were significantly less likely to experience the Poggendorff illusion effect and that right posteromedial cerebellar lesions played an important role in this effect. These results provide new insight into alterations of a geometric illusion effect in patients with cerebellar disorders and pave the way for future clinical use of the illusion task to detect cerebellar abnormalities.

DOI： 10.1093/braincomms/fcad053

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

INTRODUCTION/AIMS: Mutations in the SCN4A gene encoding a voltage-gated sodium channel (Nav1.4) cause hyperkalemic periodic paralysis (HyperPP) and hypokalemic periodic paralysis (HypoPP). Typically, both HyperPP and HypoPP are considered as monogenic disorders caused by a missense mutation with a large functional effect. However, a few cases with atypical periodic paralysis phenotype have been caused by multiple mutations in ion-channel genes expressed in skeletal muscles. In this study we investigated the underlying pathogenic mechanisms in such cases. METHODS: We clinically assessed two families: proband 1 with HyperPP and proband 2 with atypical periodic paralysis with hypokalemia. Genetic analyses were performed by next-generation sequencing and conventional Sanger sequencing, followed by electrophysiological analyses of the mutant Nav1.4 channels expressed in human embryonic kidney 293T (HEK293T) cells using the whole-cell patch-clamp technique. RESULTS: In proband 1, K880del was identified in the SCN4A gene. In proband 2, K880del and a novel mutation, R1639H, were identified in the same allele of the SCN4A gene. Functional analyses revealed that the K880del in SCN4A has a weak functional effect on hNav1.4, increasing the excitability of the sarcolemma, which could represent a potential pathogenic factor. Although R1639H alone did not reveal functional changes strong enough to be pathogenic, Nav1.4 with both K880del and R1639H showed enhanced activation compared with K880del alone, indicating that R1639H may modify the hNav1.4 channel function. DISCUSSION: A cumulative effect of variants with small functional alterations may be considered as the underpinning oligogenic pathogenic mechanisms for the unusual phenotype of periodic paralysis.

DOI： 10.1002/mus.27725

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   掲載種別：研究論文（学術雑誌）  

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by the triad of cerebellar ataxia, bilateral vestibular impairment, and sensory neuropathy. The responsible anatomical region for the sensory disturbance in CANVAS is reportedly the dorsal root ganglion, which suggests neuronopathy rather than neuropathy as the pathomechanism of this peripheral nervous system disorder. Early on, motor neuron involvement was considered rare in CANVAS. The etiology of CANVAS includes the homozygous pentanucleotide repeat expansion within the RFC1 gene, resulting in diverse phenotypes and motor deficits such as brisk reflex, extensor plantar responses, or spasticity of the upper motor neurons and muscle wasting, weakness, cramp, or fasciculation of the lower motor neurons. CANVAS patients with AAGGG repeat expansions may show motor neuron involvement, with considerable variation in the reported frequencies. In contrast, although some patients with ACAGG repeat expansions also show motor neuron involvement, its frequency remains elusive.

DOI： 10.11477/mf.1416202229

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slow-progressing multisystem neurodegenerative disorder. Biallelic AAGGG repeat expansion in RFC1 has been identified as causative of this disease, and repeat conformation heterogeneity (ACAGG repeat) was also recently implied. To molecularly characterize this disease in Japanese patients with adult-onset ataxia, we accumulated and screened 212 candidate families by an integrated approach consisting of flanking PCR, repeat-primed PCR, Southern blotting and long-read sequencing using Sequel II, GridION or PromethION. We identified 16 patients from 11 families, of whom seven had ACAGG expansions [(ACAGG)exp/(ACAGG)exp] (ACAGG homozygotes), two had ACAGG and AAGGG expansions [(ACAGG)exp/(AAGGG)exp] (ACAGG/AAGGG compound heterozygotes) and seven had AAGGG expansions [(AAGGG)exp/(AAGGG)exp] (AAGGG homozygotes). The overall detection rate was 5.2% (11/212 families including one family having two expansion genotypes). Long-read sequencers revealed the entire sequence of both AAGGG and ACAGG repeat expansions at the nucleotide level of resolution. Clinical assessment and neuropathology results suggested that patients with ACAGG expansions have similar clinical features to previously reported patients with homozygous AAGGG expansions, although motor neuron involvement was more notable in patients with ACAGG expansions (even if one allele was involved). Furthermore, a later age of onset and slower clinical progression were implied in patients with ACAGG/AAGGG compound heterozygous expansions compared with either ACAGG or AAGGG homozygotes in our very limited cohort. Our study clearly shows the occurrence of repeat conformation heterogeneity, with possible different impacts on the affected nervous systems. The difference in disease onset and progression between compound heterozygotes and homozygotes might also be suspected but with very limited certainty due to the small sample number of cases in our study. Studies of additional patients are needed to confirm this.

DOI： 10.1093/brain/awab363

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Guillain-Barré syndrome (GBS) has occasionally occurred in people who have received coronavirus disease 2019 (COVID-19) vaccines. Dysgeusia is rare symptom of GBS. We herein report a rare case of sensory ataxic GBS with dysgeusia just after the second dose of the Pfizer-BioNTech COVID-19 vaccine. Although autoantibodies against glycolipids were not detected, immunotherapy with intravenous immunoglobulin and methylprednisolone pulse therapy effectively ameliorated the symptoms. Our report suggests that the COVID-19 vaccine may induce various clinical subtypes of GBS, including a rare variant with sensory ataxia and dysgeusia.

DOI： 10.2169/internalmedicine.8967-21

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Ultrasonography (US) is a noninvasive and patient-friendly tool for the evaluation of peripheral nerves. In motor neuron diseases, amyotrophic lateral sclerosis (ALS) has been reported to show the atrophy of peripheral nerves on US. However, the US findings are still unclear in spinal and bulbar muscular atrophy (SBMA), an adult-onset lower motor neuron disease caused by an abnormal CAG repeat expansion in the androgen receptor gene. METHODS: We prospectively recruited and evaluated 11 patients with genetically confirmed SBMA and 9 patients with ALS diagnosed according to the revised El Escorial ALS criteria or the Awaji electrodiagnostic criteria. The C5-C7 cervical nerve roots and the median and ulnar nerves were evaluated ultrasonographically. RESULTS: The cross-sectional areas (CSAs) of the C6 and C7 nerve roots, the median nerve in the upper arm and forearm, and the ulnar nerve in the upper arm were smaller in patients with SBMA than those in patients with ALS (p < 0.05), whereas the CSAs of the C5 nerve root and the ulnar nerve in the forearm were not smaller. CONCLUSIONS: US showed that the peripheral nerves in patients with SBMA were thinner than those in patients with ALS despite similar degrees of weakness and motor neuron loss. Possible causes include additional sensory nerve involvement and longer disease duration in patients with SBMA than those in patients with ALS.

DOI： 10.1007/s10072-022-05969-1

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掲載種別：研究論文（学術雑誌）   出版者・発行元：Elsevier BV  

DOI： 10.1016/j.thromres.2021.08.016

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：Movement Disorder Society of Japan (MDSJ)  

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記述言語：日本語   出版者・発行元：Movement Disorder Society of Japan (MDSJ)  

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記述言語：日本語   出版者・発行元：(株)へるす出版  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

OBJECTIVE: There are many myotome charts in the literature, but few studies have presented actual data to support their identification. We aimed to determine C5/C6/C7 myotomes based on clinical and EMG data of patients with cervical spondylotic radiculopathy (CSR) having a single-root lesion confirmed by MRI. METHODS: Medical Research Council (MRC) scores and EMG findings were retrospectively reviewed for patients enrolled from our EMG database. RESULTS: Enrolled were 25 patients (10 C5, 6 C6, and 9 C7 CSR). In C5 CSR, weakness or denervation potentials in EMG, or both, were observed in the deltoid (Del) and infraspinatus (Isp) muscles for all patients, and in the biceps brachii (BB) and brachioradialis (BR) muscles for 9/10 and 8/9 patients, respectively. In C6 CSR, weakness of the wrist extensor and/or denervation of the extensor carpi radialis longus (ECRL)/extensor carpi radialis brevis (ECRB), and those of the pronator teres (PT) were observed for all patients. Weakness was not observed for any other muscle in C6 CSR. Denervation potentials of ECRL were found in 5/8 and 3/5 patients with C5 and C6 CSR, respectively, whereas those of ECRB were found in 1/5, 6/6, and 2/5 patients with C5, C6 and C7 CSR, respectively. In C7 CSR, weakness/denervation of the triceps brachii (TB) and denervation potentials of the flexor carpi radialis (FCR) were observed for all patients. Denervation potentials in PT and weakness/denervation of the extensor digitorum (ED) were observed in 2/9 and 4/9 patients, respectively. CONCLUSION: Suggested dominant myotomes are: C5 for the Del, Isp, BB, and BR, C5/6 for the ECRL, C6 > C7 for the ECRB and PT, and C7 for the TB and FCR. SIGNIFICANCE: The current study identified dominant myotomes that differ from the existing literature.

DOI： 10.1016/j.cnp.2021.02.002

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記述言語：英語  

Takotsubo cardiomyopathy (TCM) is a stress-induced cardiomyopathy triggered by critical illness including severe neurological disorders. However, an association between TCM and Bickerstaff brainstem encephalitis (BBE) has rarely been described. During the current coronavirus disease 2019 (COVID-19) pandemic, growing evidence indicates that COVID-19 often leads to various neurological disorders, but there are few reports of an association between COVID-19 and BBE. Here we report a case of TCM associated with BBE triggered by COVID-19, which subsided with immunotherapy for BBE. Both transthoracic echocardiography and electrocardiography led to early and accurate diagnosis of TCM. Sustained hemodynamic instability due to TCM was immediately lessened with immunotherapy whereas additional plasmapheresis and immunotherapy were required to treat BBE. This case indicates that BBE might follow COVID-19 and TCM should be considered when hemodynamic status remains unstable in a patient with BBE.

DOI： 10.3389/fneur.2021.822247

PubMed

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

We herein report a 33-year-old woman who was an asymptomatic hepatitis B virus (HBV) carrier and presented with distal muscle weakness in the legs and asymmetrical paresthesia in the distal extremities. A nerve biopsy specimen revealed fibrinoid necrosis associated with inflammatory infiltration in the perineural space, and deposition of hepatitis B core antigen and C4d complement was detected in the vascular endothelial cells as well as around the vessels. She was diagnosed with HBV-related vasculitic neuropathy and treated with intravenous immunoglobulin (IVIG). Her symptoms completely subsided after eight weeks. Vasculitic neuropathy rarely develops in the chronic inactive stages of HBV infection. This is the first report of an HBV-inactive carrier with vasculitic neuropathy successfully treated with IVIG.

DOI： 10.2169/internalmedicine.4498-20

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経治療学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経免疫学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経治療学会  

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その他リンク： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2020&ichushi_jid=J02615&link_issn=&doc_id=20210210460021&doc_link_id=%2Fcq3neuro%2F2020%2F003703%2F021%2F0291-0293%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcq3neuro%2F2020%2F003703%2F021%2F0291-0293%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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その他リンク： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2019&ichushi_jid=J03414&link_issn=&doc_id=20191209320004&doc_link_id=10.11422%2Fjscn.47.537&url=https%3A%2F%2Fdoi.org%2F10.11422%2Fjscn.47.537&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

INTRODUCTION: In this work we investigated the interaction of cathodal and anodal stimulations in nerve conduction studies (NCSs). METHODS: Subjects assessed consisted of 10 healthy volunteers. The ulnar nerve was stimulated at the wrist using 2 bipolar surface electrodes, simulating ordinary NCSs. We were able to independently change the stimulus current value at the distal cathode and the proximal anode. RESULTS: The anodal stimulation became more difficult to elicit as the stimulus current at the cathode was increased, whereas the cathodal stimulation became more likely to occur as the stimulus current at the anode was increased. DISCUSSION: During bipolar stimulation, the cathodal stimulation suppresses the anodal stimulation, whereas the anodal stimulation assists the cathodal stimulation. This explains the common observation in NCSs that the cathodal stimulation becomes difficult to elicit when the anode is moved away from the nerve. Muscle Nerve 59:713-716, 2019.

DOI： 10.1002/mus.26467

PubMed

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経治療学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経治療学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経治療学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：英語  

DOI： 10.1111/cge.13369

PubMed

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記述言語：英語   出版者・発行元：Taylor and Francis Ltd  

DOI： 10.1080/03009742.2017.1334815

Scopus

PubMed

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1002/mus.25450

Web of Science

PubMed

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.clinph.2017.02.021

Web of Science

PubMed

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(株)へるす出版事業部  

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記述言語：日本語   出版者・発行元：(株)へるす出版事業部  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：日本末梢神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：英語  

DOI： 10.1016/j.jns.2015.04.049

Web of Science

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/neup.12136

Web of Science

PubMed

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.jstrokecerebrovasdis.2014.07.042

Web of Science

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：BioMed Central Ltd.  

DOI： 10.1186/1752-1947-8-395

Scopus

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記述言語：日本語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Medical Association of Yokohama City University  

Scopus

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.jstrokecerebrovasdis.2012.07.005

Web of Science

PubMed

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記述言語：英語  

DOI： 10.2169/internalmedicine.52.0935

Web of Science

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.jns.2009.11.008

Web of Science

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：日本自律神経学会  

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記述言語：日本語   出版者・発行元：日本自律神経学会  

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記述言語：日本語   出版者・発行元：日本自律神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：日本神経感染症学会  

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記述言語：日本語   出版者・発行元：日本神経感染症学会  

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J-GLOBAL

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記述言語：日本語   出版者・発行元：(株)南江堂  

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J-GLOBAL

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記述言語：日本語   出版者・発行元：(株)三輪書店  

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J-GLOBAL

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記述言語：日本語   出版者・発行元：(有)科学評論社  

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J-GLOBAL

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

DOI： 10.5692/clinicalneurol.cn-000754

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記述言語：日本語   出版者・発行元：横浜市立大学医学会  

CiNii Books

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その他リンク： http://search.jamas.or.jp/link/ui/2015359978

記述言語：日本語   出版者・発行元：日本神経治療学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

DOI： 10.5692/clinicalneurol.52.681

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記述言語：日本語   出版者・発行元：(有)科学評論社  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

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記述言語：日本語   出版者・発行元：(一社)日本神経学会  

DOI： 10.5692/clinicalneurol.50.641

Scopus

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記述言語：日本語  

CiNii Books

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記述言語：日本語   出版者・発行元：日本自律神経学会  

パーキンソン病(PD)、多系統萎縮症(MSA)に薬物点眼検査を施行し、疾患間に相違ないか検討した。薬物点眼試験を施行したPD 24例、オリーブ橋小脳萎縮症(OPCA)33例、線状体黒質変性症(SND)14例、シャイ・ドレーガー症候群(SDS)5例を対象とした。点眼薬は1.25%エピネフリンまたは1%フェニレフリン(E・P)、5%チラミン(T)、および5%コカイン(C)を使用した。E・Pの過剰散瞳は、PD 22例中10例.OPCA 32例中16例、SND 15例中7例、SDS 5例中3例で、節後性障害でTの反応低下を伴う例はPD 3例、OPCA 2例、SND 1例、SDS 1例、Cでの反応低下例はPD 5例、OPCA 7例、SND 5例、SDS 4例であった。瞳孔反応異常は他の自律神経障害と無関係で、他の障害に先行する症例も認めた。点眼試験は、鑑別には有用ではなかった。

CiNii Books

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記述言語：日本語  

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記述言語：日本語   出版者・発行元：(有)科学評論社  

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