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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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：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  

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

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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   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

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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：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  

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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：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  

神経伝導検査(NCS)における陽極の影響として、anodal blockの現象が広く信じられてきたが、実際にはanodal blockは起こらず、むしろ陽極刺激が生じることはあまり知られていない。我々は、陽極刺激の特徴や陽極刺激がF波検査に与える影響について検討し、陽極刺激は実際の陽極よりも約22mm程度離れた部位から生じることを示した。F波検査では、特に陰極が神経上から離れた状態で不用意に刺激強度をあげた場合に、陽極刺激によるF波潜時短縮のピットフォールが容易に起こる。この陽極刺激の影響を回避するために、陽極を神経上から少しずらすことが有用であることを証明した。さらに、実験中に見出された電極間の相互作用についても検討し、陰極刺激が陽極刺激を起こりづらくさせ、一方で陽極刺激は陰極刺激を起こりやすくさせることを発見した。このような電極間の相互作用はこれまで報告されておらず、初めて見出されたものである。(著者抄録)

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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：(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

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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：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

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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

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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）   出版者・発行元：WILEY  

Introduction: Recent studies have shown that stimulation occurs at the anode of stimulating electrodes instead of anodal block. This phenomenon may be a pitfall in F-wave examinations. Methods: Subjects included 10 healthy volunteers. Their ulnar nerve was stimulated at the wrist with the cathode placed distally. Antidromic impulses were evaluated using mixed nerve action potential (MNAP) at the elbow. Results: Anodal stimulation occurred for both sensory and motor fibers at 22mm proximal to the anode, on average, which may theoretically shorten the F-wave latency by about 0.8 ms. Displacement of the anode away from the nerve made anodal stimulation less likely. In contrast, displacement of the cathode away from the nerve lowered the threshold for anodal stimulation, a newly found interaction between cathode and anode. Conclusions: In this work we identified detailed features of anodal stimulation and potential influence on F-wave examinations.

DOI： 10.1002/mus.25450

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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：ELSEVIER IRELAND LTD  

Objective: Decremental responses in the repetitive nerve stimulation (RNS) test in amyotrophic lateral sclerosis (ALS) patients have been reported, although their possible diagnostic role has received little investigation. We investigated their diagnostic role in differentiation between ALS and cervical spondylotic amyotrophy (CSA), an important ALS mimic especially in Japan.
Methods: Patients were prospectively enrolled and the diagnosis was confirmed by follow-up. RNS was performed on the abductor pollicis brevis (APB), upper trapezius (trapezius) and deltoid muscles.
Results: Enrolled subjects consisted of 53 ALS and 37 CSA patients. Abnormal decremental responses (&gt;5%) were observed in 32%, 51% and 75% of ALS patients and 3%, 0% and 20% of CSA patients for the APB, trapezius and deltoid muscles, respectively. The sensitivity for 23 ALS patients with upper-limb onset was 78% for the trapezius and 100% for the deltoid muscles.
Conclusions: An abnormal decremental response in the trapezius muscle was 100% specific to ALS in comparison with CSA: abnormal decrement in this muscle would strongly suggest ALS. No decrement in the deltoid muscle might exclude ALS in patients having symptoms with upper-limb onset.
Significance: RNS is useful in differentiation between ALS and CSA. (C) 2017 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

DOI： 10.1016/j.clinph.2017.02.021

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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：(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：(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：英語   出版者・発行元：ELSEVIER SCIENCE BV  

DOI： 10.1016/j.jns.2015.04.049

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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）   出版者・発行元：WILEY-BLACKWELL  

DOI： 10.1111/neup.12136

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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：ELSEVIER SCIENCE BV  

The case of an 86-year-old man presenting with isolated left index finger palsy caused by infarction on the lateral side of the right precentral knob is presented. Embolization from aortic atheroma was considered the cause of infarction. Cases with selective palsy of a particular group of fingers without sensory deficits due to cortical infarction of the precentral knob have been reported by several authors, and predominant weakness of radial-side fingers is known to be usually caused by laterally located infarction of the precentral knob. Among the previous reports, only 1 case involved isolated index finger palsy by an atypical, medially located infarction of the precentral knob in association with a concurrent nonrelated lesion. This is the first reported isolated index finger palsy caused by a single lateral precentral knob infarction.

DOI： 10.1016/j.jstrokecerebrovasdis.2014.07.042

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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：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  

We report the case of an 88-year-old man with spinal epidural abscess without bacterial meningitis who showed decreased glucose levels in cerebrospinal fluid (CSF). We reviewed 90 cases of spinal epidural abscess reported from Japan that mentioned CSF examination. Typical CSF features of bacterial meningitis associated with meningitis were observed in 18 cases. However, even in the 72 cases without meningitis, CSF analysis showed pleocytosis (87%) with a polymorphonuclear predominance (71%) and a high level of protein. A decrease in CSF levels of glucose was found in 49% of cases without meningitis. Regarding the classic triad of meningitis, fever, nuchal rigidity, and unconsciousness were seen in 89%, 72%, and 6% of cases, respectively. In addition, headache was found in 37% of cases without meningitis. These results suggest that discriminating the comorbidity of bacterial meningitis based on clinical information, including results of CSF examination, is difficult in patients with spinal epidural abscess, particularly when decreased CSF levels of glucose are observed.

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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.  

Introduction: Intracranial branch atheromatous disease is a type of ischemic stroke that is caused by narrowing or occlusion of the orifice of the penetrating artery by atheromatous plaque. Pontine branch atheromatous disease is usually diagnosed using indirect findings such as the extension of a lesion to the basal surface of the pons because of the difficulty of demonstrating plaque in the basilar artery. Case presentation: A 72-year-old Japanese man developed sudden dysarthria and left hemiparesis, and his symptoms deteriorated thereafter. Brain magnetic resonance imaging revealed an acute infarction in the territory of the right paramedian pontine artery extending to the basal surface. Non-contrast-enhanced three-dimensional fast spin-echo T1 imaging with variable flip angles and three-dimensional fast imaging with steady-state acquisition revealed a plaque in the dorsal wall of the basilar artery that spread to the origin of the paramedian pontine artery that branched toward the infarction. Although antithrombotic agents were started, the left hemiparesis got worse and became flaccid on the following day. Conclusions: This is the first report to confirm the pathological basis of branch atheromatous disease by three-dimensional images using the new modalities of 3-Tesla magnetic resonance imaging. The use of these techniques will foster better understanding of the clinicopathological mechanisms of branch atheromatous disease.

DOI： 10.1186/1752-1947-8-395

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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）   出版者・発行元：ELSEVIER SCIENCE BV  

A 65-year-old man developed progressive worsening of right-sided limb-kinetic apraxia and extrapyramidal dysfunction. His left internal carotid artery was found to be occluded, and there was general atrophy and severely decreased cerebral blood flow in the left hemisphere. He had experienced an acute infarction in the left watershed area before superficial temporal artery to middle cerebral artery bypass surgery. After surgery, the cerebral blood flow in the left hemisphere was remarkably improved. Unilateral internal carotid artery occlusion may result in clinical manifestations similar to corticobasal degeneration.

DOI： 10.1016/j.jstrokecerebrovasdis.2012.07.005

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記述言語：英語   出版者・発行元：JAPAN SOC INTERNAL MEDICINE  

DOI： 10.2169/internalmedicine.52.0935

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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）   出版者・発行元：ELSEVIER SCIENCE BV  

Pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome (HSS), is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in the brain. Mutations in the pantothenate kinase 2 (PANK2) gene are known to be responsible for PKAN. Several studies have revealed correlations between clinical phenotypes and particular PANK2 mutations. The adult-onset slowly progressive type of PKAN with PANK2 mutations is very rare. In this report, we describe siblings with the adult-onset slowly progressive type of PKAN with a novel mutation, Ile346Ser, in PANK2. The siblings had the same mutation in PANK2 and had common clinical signs such as misalignment of teeth, a high arched palate, hollow feet, a slight cognitive decline, and an apparent executive dysfunction, although they showed different patterns of movement disorders. Thus, even if PKAN patients have identical mutations, it is likely that they will present with different types of movement disorders. Brain perfusion single photon emission computed tomography in both patients showed decreased regional cerebral blood flow in the bilateral frontoparietal lobes, the globus pallidus, the striatum, and around the ventriculus quartus. Cardiac uptake of [I-123] meta-iodobenzylguanidine was normal in both patients. Analysis of genotype-phenotype correlations and the elucidation of mutational effects on pantothenate kinase 2 function, expression, and structure are important for understanding the mechanisms of PKAN. (C) 2009 Elsevier B.V. All rights reserved.

DOI： 10.1016/j.jns.2009.11.008

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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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記述言語：日本語   出版者・発行元：(株)三輪書店  

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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  

症例は失行、右上下肢麻痺、痙攣で発症し、関節リウマチ症状を認めない69歳女性。脳MRIで両側頭頂葉、左前頭葉の脳表に沿った限局性病変を認め、血中抗CCP抗体、抗ガラクトース欠損IgG抗体、MMP-3、脳脊髄液中抗ガラクトース欠損IgG抗体陽性であり病態的にリウマチ性髄膜炎が疑われた。ステロイド治療に反応し、診断と病勢の指標に抗体価指数(脳脊髄液中抗ガラクトース欠損IgG抗体価/血清抗ガラクトース欠損IgG抗体価)/(脳脊髄液中IgG/血清IgG)が有用であった。本症例は関節リウマチ未発症である点、脳脊髄液中抗ガラクトースIgG抗体を測定した点が初報告であり、貴重な症例と考えられた。(著者抄録)

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  

脊髄硬膜外膿瘍患者で、頭痛や意識障害などを伴い、膿瘍の浸潤などを原因とした細菌性髄膜炎の合併が疑われた場合、その合併は予後不良因子とされ、合併有無の診断は抗菌薬の選択など治療方針決定に際し重要である。脊髄硬膜外膿瘍の髄液検査所見は、教科書的には、多型核球優位の細胞数増多、蛋白高値、糖正常が特徴とされているが、疾患の希少性も手伝い、多数例での検討は乏しい。今回、2012年までに報告された脊髄硬膜外膿瘍の症例に関する日本国内の施設からの症例報告を参照し、髄液検査所見に関する具体的記載があった83報告、89例に、明らかな髄膜炎の徴候を伴わないものの髄液検査から当初細菌性髄膜炎の合併を否定できなかった脊髄硬膜外膿瘍の自験1例を加えた計90例を対象とし、本文中の記載に基づき、髄膜炎合併の記載のある18例と記載のない72例について比較検討した。結果としては、髄膜炎非合併例で、多形核球優位の細胞数増多が多数を占め、全例で蛋白は上昇していたのみならず、髄液糖の低下も35例中17例(49%)にみられた。また、発熱と項部硬直は陽性のものが多く、意識障害を認めた例も僅かながらあった(4/65例)。頭痛は37%(13/35例)にみられた。以上から、細菌性髄膜炎合併の有無を髄液検査により判断することは極めて困難であり、細菌性髄膜炎を伴わずとも髄液糖低下をきたしうることに留意する必要がある。(著者抄録)

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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  

経過16年、Parkinson病の56歳男性。hypersexualityの改善目的に入院。L-DOPA、ドパミンアゴニスト3種(pergolide、cabergoline、ropinirole)、selegiline、entacapone、amantadineを内服しており、cabergoline、selegiline、pergolideの順に減量中止。この際、運動症状の増悪はない中で焦燥発作と悪夢が出現増悪し、ドパミンアゴニスト離脱症候群を疑った。抗Parkinson病薬の再開を躊躇し、抑肝散を内服開始したところ、症状の改善を得た。抑肝散は近年認知症に対する効果が注目されているが、Parkinson病患者の精神症状にも有用と考えられる。(著者抄録)

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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  

症例は緊張型頭痛を契機に受診した68歳男性である。約1年の経過の認知症があり、観念運動性失行、不全型Gerstmann症候群(失計算、失書、手指失認)がみられ、MRIで左大脳半球に著明な嚢胞状病変が多発、周囲の一部にFLAIR高信号域がみられ、血管周囲腔の拡大がうたがわれた。MRSで病変部の乳酸増加、MRAで左中大脳動脈と左後大脳動脈に局所の狭窄をともなわない描出低下があり、脳血流ECD-SPECTで左大脳半球の集積低下、脳波で左優位の徐波がみられた。患者の徴候は通常優位側頭頂葉病変を示唆し、左大脳半球に限局した多発性の嚢胞状病変との因果関係がうたがわれた。(著者抄録)

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  

症例は50歳女性である。出産歴、発達歴に異常なく、神経疾患の家族歴をみとめない。約6年間の経過で進行する頸部ジストニア、口部ジスキネジアおよび腱反射亢進を主とする症候をみとめた。原因不明の痙性対麻痺と考えたが、脳MRI上小脳虫部の軽度の萎縮をみとめたため遺伝子検査を施行したところATXN2の一方のアレルにおいてCAGリピートが38と異常伸長をみとめたため、脊髄小脳失調症2型(SCA2)と診断した。本症例ではSCA2に特徴的とされる小脳性運動失調、緩徐眼球運動、腱反射低下がみとめられず痙性対麻痺様の症候を呈したため、SCA2の臨床像の多様性を示す貴重な症例と考えられた。(著者抄録)

DOI： 10.5692/clinicalneurol.50.641

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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：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。

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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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