Language：English   Publishing type：Research paper (scientific journal)   Publisher：Journal of Sleep Research  

We report a case of monozygotic twin sisters with hereditary spastic paraplegia type 4 (SPG4) and epilepsy, only one of whom had a diagnosis of narcolepsy type 1 (NT1). The older sister with NT1 exhibited excessive daytime sleepiness, cataplexy, sleep-onset rapid eye movement period in the multiple sleep latency test, and decreased orexin levels in cerebrospinal fluid. Both sisters had HLA-DRB1*15:01-DQB1*06:02 and were further identified to have a novel missense mutation (c.1156A > C, p.Asn386His) in the coding exon of the spastin (SPAST) gene. The novel missense mutation might be involved in the development of epilepsy. This case is characterised by a combined diagnosis of SPG4 and epilepsy, and it is the first report of NT1 combined with epilepsy and genetically confirmed SPG4. The fact that only one of the twins has NT1 suggests that acquired and environmental factors are important in the pathogenesis of NT1.

DOI： 10.1111/jsr.14102

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：European Journal of Medical Genetics  

Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive. Case presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years. Appetite loss, motor and cognitive decline became evident at age 12 years. Electrophysiological studies identified paroxysmal discharges on myoclonic seizure and a giant somatosensory evoked potential. Perampanel was effective for controlling myoclonic seizures. Exome sequencing revealed that the patient carried compound heterozygous variants in NGLY1, NM_018297.4: c.857G > A and c.-17_12del, which were inherited from mother and father, respectively. A literature review confirmed that myoclonic seizures were observed in 28.5% of patients with epilepsy. No other patients had progressive myoclonic epilepsy or cognitive decline in association with loss-of-function variations in NGLY1. Conclusion: Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.

DOI： 10.1016/j.ejmg.2023.104895

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Societas Neurologica Japonica  

<p>Temporal lobe epilepsy is known to present with various cognitive impairments, among which memory deficits are frequently reported by patients. Memory deficits can be classified into two types: classical hippocampal amnesia, which is characterized by abnormalities detected in neuropsychological assessments, and atypical memory deficits, such as accelerated long-term amnesia and autobiographical memory impairment, which cannot be identified using standard testing methods. These deficits are believed to arise from a complex interplay among structural brain abnormalities, interictal epileptic discharges, pharmacological factors, and psychological states. While fundamental treatments are limited, there are opportunities for interventions such as environmental adjustments and rehabilitation. This review article aims to provide a comprehensive overview of the types, underlying pathophysiology, and intervention methods for memory disorders observed in patients with temporal lobe epilepsy.</p>

DOI： 10.5692/clinicalneurol.cn-001886

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CiNii Research

Language：English   Publishing type：Research paper (scientific journal)   Publisher：Transplantation Proceedings  

Autoimmune encephalitis after liver transplantation (LT) is a rare disorder. This is because patients are usually in an immunosuppressed state after LT. Here, we report a rare case of autoantibody-negative autoimmune-encephalitis-induced coma after living-donor (LD) LT. A 45-year-old woman who underwent LDLT for primary biliary cholangitis (PBC) was brought to our hospital with the chief complaint of cognitive deficiency and an episode of memory loss. Physical examination, laboratory tests, and cerebrospinal fluid analysis revealed no significant findings. However, diffusion-weighted magnetic resonance imaging showed hyperintensity in the bilateral hippocampus. No autoantibodies associated with autoimmune encephalitis were detected. The diagnosis of antibody-negative autoimmune encephalitis was made on the basis of low immunosuppressive drug levels in the blood (indicative of poor adherence) and the presence of PBC as the autoimmune disease. The patient regained consciousness after intravenous methylprednisolone pulse therapy and plasma exchange. This case highlights that when examining patients with impaired consciousness after LDLT, it is important to consider autoimmune encephalitis as a potential diagnosis.

DOI： 10.1016/j.transproceed.2023.07.005

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Neurology and Clinical Neuroscience  

Chromosomally integrated human herpesvirus 6 (ciHHV6) is a condition where HHV6-DNA is integrated into the host germline genome. ciHHV6 can be misdiagnosed as active HHV6 infection. We report a 30-year-old woman presenting with psychological symptoms without a history of immunodeficiency. She had an ovarian teratoma and anti-N-methyl-D-aspartate receptor (NMDAR) antibodies in the cerebrospinal fluid (CSF) with HHV6-DNA in the serum and CSF. The final diagnosis was anti-NMDAR encephalitis and ciHHV6 because laparoscopic oophorectomy and immunotherapy ameliorated her symptoms and HHV6-DNA was detected in her oral mucosa cells. This case suggests the need to assess whether HHV6-DNA is related to infection or ciHHV6 when HHV6-DNA is detected in the CSF of patients with encephalitis.

DOI： 10.1111/ncn3.12681

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Surgical Neurology International  

Background: We previously demonstrated the usefulness of periorbital electrodes in supplemental recording to detect epileptiform discharges in patients with mesial temporal lobe epilepsy (MTLE). However, eye movement may disturb periorbital electrode recording. To overcome this, we developed mandibular (MA) and chin (CH) electrodes and examined whether these electrodes could detect hippocampal epileptiform discharges. Methods: This study included a patient with MTLE, who underwent insertion of bilateral hippocampal depth electrodes and video-electroencephalographic (EEG) monitoring with simultaneous recordings of extra- and intracranial EEG as part of a presurgical evaluation. We examined 100 consecutive interictal epileptiform discharges (IEDs) recorded from the hippocampus and two ictal discharges. We compared these IEDs from intracranial electrodes with those from extracranial electrodes such as MA and CH electrodes in addition to F7/8 and A1/2 of international EEG 10-20 system, T1/2 of Silverman, and periorbital electrodes. We analyzed the number, rate of laterality concordance, and mean amplitude of IEDs detected in extracranial EEG monitoring and characteristics of IEDs on the MA and CH electrodes. Results: The MA and CH electrodes had nearly the same detection rate of hippocampal IEDs from other extracranial electrodes without contamination by eye movement. Three IEDs, not detected by A1/2 and T1/2, could be detected using the MA and CH electrodes. In two ictal events, the MA and CH electrodes detected the ictal discharges from the hippocampal onset as well as other extracranial electrodes. Conclusion: The MA and CH electrodes could detect hippocampal epileptiform discharges as well as A1/A2, T1/T2, and peri-orbital electrodes. These electrodes could serve as supplementary recording tools for detecting epileptiform discharges in MTLE.

DOI： 10.25259/SNI_1164_2022

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Frontiers in Neurology  

Purpose: Interictal epileptic discharges (IEDs) are known to affect cognitive function in patients with epilepsy, but the mechanism has not been elucidated. Sleep spindles appearing in synchronization with IEDs were recently demonstrated to impair memory consolidation in rat, but this has not been investigated in humans. On the other hand, the increase of sleep spindles at night after learning is positively correlated with amplified learning effects during sleep for motor sequence learning. In this study, we examined the effects of IEDs and IED-coupled spindles on motor sequence learning in patients with epilepsy, and clarified their pathological significance. Materials and methods: Patients undergoing long-term video-electroencephalography (LT-VEEG) at our hospital from June 2019 to November 2021 and age-matched healthy subjects were recruited. Motor sequence learning consisting of a finger-tapping task was performed before bedtime and the next morning, and the improvement rate of performance was defined as the sleep-dependent learning effect. We searched for factors associated with the changes in learning effect observed between the periods of when antiseizure medications (ASMs) were withdrawn for LT-VEEG and when they were returned to usual doses after LT-VEEG. Results: Excluding six patients who had epileptic seizures at night after learning, nine patients and 11 healthy subjects were included in the study. In the patient group, there was no significant learning effect when ASMs were withdrawn. The changes in learning effect of the patient group during ASM withdrawal were not correlated with changes in sleep duration or IED density; however, they were significantly negatively correlated with changes in IED-coupled spindle density. Conclusion: We found that the increase of IED-coupled spindles correlated with the decrease of sleep-dependent learning effects of procedural memory. Pathological IED-coupled sleep spindles could hinder memory consolidation, that is dependent on physiological sleep spindles, resulting in cognitive dysfunction in patients with epilepsy.

DOI： 10.3389/fneur.2022.979333

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Neuropsychology Association of Japan  

<p>The present study investigated the ability of facial emotion recognition in patients with temporal lobe epilepsy (TLE). Total of 12 TLE patients and 32 healthy controls were participated. Two tasks consisted of morphing movie task and static picture task were used. Emotions of happiness, anger, sadness and surprise were examined. In the morphing movie task, movies in which face was gradually morphed from neutral emotion expression to maximum emotion expression were presented to the participants, then they were asked to respond when they judged that facial emotion was changed from neutral expression. Reaction time from onset of movie presentation to response was used to calculate facial emotion discrimination threshold. In the static picture task, static image in which face with maximum facial emotion expression was presented, and participants were asked to judge type of emotion. The results showed that the facial emotion discrimination thresholds in emotions of surprise and anger were significantly higher in TLE patients compared with healthy control in the morphing task. No errors were found in the static picture task. TLE patients were able to recognize the facial expression of static image with maximum emotion expression as well as the healthy group, but showed the increase of facial emotion discrimination threshold. The morphing movie task could be detectable increase of facial emotion discrimination threshold in TLE patients.</p>

DOI： 10.20584/neuropsychology.17142

CiNii Research

Language：English   Publishing type：Research paper (scientific journal)  

DOI： 10.1002/epi4.12616

PubMed

Language：English   Publishing type：Research paper (scientific journal)   Publisher：Epilepsy and Behavior Reports  

Exercise-induced reflex seizures are a rare form of reflex seizures that are exclusively induced by a specific type of exercise. Many patients with exercise-induced reflex seizures exhibit drug-resistance, and are therefore advised to avoid the triggering exercise. Here, we describe a focal epilepsy patient with shadowboxing-induced reflex seizures. His semiology included focal aware seizures with speech and behavioral arrest that evolved to head version to the right, preceded by cephalic aura. We identified a specific motion that induced these seizures during shadowboxing using video-electroencephalographic recording, and the patient was able to continue boxing by avoiding this motion. We speculate that a broad brain network may be the pathological substrate of his exercise-induced reflex seizures. Identification of the specific motion that induces exercise-induced reflex seizures is useful for not only understanding the underlying pathophysiology, but also for minimizing the therapeutic restriction of the exercise.

DOI： 10.1016/j.ebr.2022.100543

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脳脊髄液(CSF)で抗NMDA受容体(NMDAR)抗体とヒトヘルペスウイルス6(HHV6)-DNA陽性を示し、抗NMDAR脳炎および染色体に組み込まれたHHV6(ciHHV6)と最終診断された1例について報告した。症例は30歳女性で、Day0に亜急性の情動不安と錯乱状態を呈し頭痛を伴い、Day39に自宅の二階から飛び降りた。救急搬送されたが妄想が認められたため精神病院に移送され、移送先の医療施設で自己免疫性脳炎が疑われたことから、Day67に見当識障害、幻視、被害妄想、妄想気分、情緒不安定、激越を伴った状態で当院に移送された。CSFには軽度の髄液細胞増加、高タンパク血症、抗NMDAR抗体が検出され、血清とCSFからはHHV6-DNA陽性が示されたが、他のヘルペスウイルスDNAは陰性であった。脳波では突発活動を伴わないdiffuse background slowingが検出され、脳MRI検査では正常所見であったが、HHV6脳炎と抗NMDAR脳炎を疑い、抗ウイルス薬投与とメチルプレドニゾロン静注後に、静注免疫グロブリンが投与された。Day82に左卵巣腫瘍に対し腹腔鏡下卵巣摘出術を行い、血漿交換を行ったところ症状は改善され、CSF中細胞数とタンパク質も正常値に低下し、脳波も正常化した。しかし、6週間のガンシクロビル投与後も血清/CSFともにHHV6-DNA陽性、口腔粘膜細胞もHHV6-DNA陽性で、ガンシクロビル投与を中止したが、症状の増悪はみられなかった。以上の所見から、本例は抗NMDAR脳炎とciHHV6と最終診断された。

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Language：English   Publishing type：Research paper, summary (international conference)  

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Language：Japanese   Publishing type：Article, review, commentary, editorial, etc. (trade magazine, newspaper, online media)   Publisher：(株)メディカルレビュー社  

Language：Japanese   Publishing type：Article, review, commentary, editorial, etc. (scientific journal)   Publisher：(一社)日本臨床神経生理学会  

ノンレム関連睡眠時随伴症の覚醒障害,レム関連睡眠時随伴症のレム睡眠行動障害,睡眠関連運動障害のひとつである周期性四肢運動障害は発作性に生じるため,てんかん発作との鑑別が必要になる。前頭葉てんかんは睡眠時に生じやすく,過運動発作を生じる場合は錯乱性覚醒や睡眠時驚愕症との鑑別が必要になる。前頭葉てんかん含め,てんかん発作後に朦朧として歩き回る時は睡眠時遊行症との鑑別が必要になる。前頭葉てんかんの脳波では発作間欠期にてんかん性異常が出現するのは6割程度,発作時には動きのアーチファクトが入るので局在異常を捉えられる割合は3～4割程度にすぎない。睡眠時脳波にはてんかん性異常との鑑別が難しい所見もある。鑑別が困難な時には,詳細な症状や発作頻度の問診,症状出現時の動画記録,睡眠ポリグラフや長時間ビデオ脳波モニタリングを用いた発作出現タイミングの把握,などが参考になる。(著者抄録)

Language：English   Publishing type：Research paper, summary (international conference)  

DOI： 10.1182/blood-2024-199102

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Authorship：Lead author   Language：Japanese   Publishing type：Article, review, commentary, editorial, etc. (scientific journal)   Publisher：Japanese Society of Clinical Neurophysiology  

<p>In recent years, the widespread use of continuous EEG monitoring in intensive care units has made the diagnosis of nonconvulsive status epilepticus increasingly important for patients with impaired consciousness. The American Clinical Neurophysiology Society published the latest neurocritical care EEG terminology in 2021 (ACNS 2021), which clarified the diagnostic criteria for nonconvulsive status epilepticus. This definition has enabled clear classification of electrographic seizures and electroclinical seizures on EEG. Based on our experience at our hospital, the ACNS 2021 definitions have been confirmed to provide specificity and clarity in diagnosis, leading to early diagnosis and appropriate treatment. However, challenges such as inter-rater reliability and practical application in clinical settings have been pointed out, necessitating further research and validation. In emergency settings, the ACNS 2021 terminology is becoming the standard, and it is crucial to become proficient with the new definitions.</p>

DOI： 10.11422/jscn.52.216

CiNii Research

Authorship：Lead author   Language：Japanese   Publishing type：Article, review, commentary, editorial, etc. (scientific journal)   Publisher：(一社)日本臨床神経生理学会  

近年,集中治療室での持続脳波モニタリングの普及により,意識障害患者において非痙攣性てんかん重積状態の診断が重要視されている。アメリカ臨床神経生理学会(ACNS)は,2021年に最新の神経救急脳波用語(ACNS2021)を発表し,非痙攣性てんかん重積状態の診断基準を具体化した。この定義により,脳波上の発作や脳波臨床発作などが明確に分類されるようになった。当院での経験でも,ACNS2021の定義は診断の具体性と明確さが確認でき,早期診断と適切な治療に繋がると考えている。一方で,評価者間の一致率や実臨床での適用における課題も指摘されており,今後の研究と検証が必要である。救急現場ではACNS2021の用語が標準となりつつあり,新しい定義を習熟していくことが重要である。(著者抄録)