Clinical Neurology最新文献

{"title":"[A case of anti-IgLON5 disease with recurrent respiratory failure].","authors":"Shintaro Akamatsu, Heisuke Mizukami, Akio Kimura, Takayoshi Shimohata, Makoto Shiraishi, Yoshihisa Yamano","doi":"10.5692/clinicalneurol.cn-002014","DOIUrl":"10.5692/clinicalneurol.cn-002014","url":null,"abstract":"<p><p>A 72-year-old woman with a seven-year history of Parkinson's disease, characterized by gait instability, rigidity, and postural instability, was admitted to our department for evaluation of recurrent episodes of hypoxemia and altered consciousness. During hospitalization, she experienced recurrent episodes of respiratory failure, prompting the measurement of anti-IgLON5 antibodies, which were found to be positive, leading to a diagnosis of anti-IgLON5 disease. The respiratory failure could not be attributed to vocal cord paralysis or respiratory muscle weakness, leading to the hypothesis that subglottic laryngeal spasm was the cause. Treatment with steroid pulse therapy resulted in improved ventilation. While several cases of anti-IgLON5 disease presenting with respiratory failure due to respiratory muscle weakness have been reported, this case suggests that subglottic laryngeal spasm may also be an underlying cause of respiratory failure in anti-IgLON5 disease.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"218-223"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Rapidly progressive muscle weakness in anti-myelin associated glycoprotein (MAG) neuropathy successfully treated with intravenous immunoglobulin].","authors":"Mari Fukuda, Kazutoshi Ikeda, Kentaro Yamakawa, Yohei Takenobu, Akihiko Ozaki","doi":"10.5692/clinicalneurol.cn-002030","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002030","url":null,"abstract":"<p><p>Anti-myelin associated glycoprotein (MAG) neuropathy typically progresses slowly, but rare cases exhibit rapid deterioration. We report an 83-year-old man with a two-year history of paresthesia in both feet and recent-onset gait ataxia who developed rapidly progressive muscle weakness in all four limbs over several days. Nerve conduction studies and positive anti-MAG antibodies confirmed the diagnosis of anti-MAG neuropathy. The patient's muscle weakness improved with intravenous immunoglobulin (IVIg) therapy. This case highlights the existence of atypical anti-MAG neuropathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with a rapid deterioration course and suggests the potential efficacy of IVIg in such presentations.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of amyotrophic lateral sclerosis complicated by syringomyelia associated with Chiari type I malformation].","authors":"Miki Aikawa, Tetsuo Ando, Hidehiro Shibayama, Motoo Kubota, Masahiro Sonoo, Toshio Fukutake","doi":"10.5692/clinicalneurol.cn-002045","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002045","url":null,"abstract":"<p><p>The patient was a 78-year-old woman. She underwent foramen magnum decompression for syringomyelia associated with Chiari type I malformation, which had developed with difficulty in raising the left upper limb and muscle weakness in both upper limbs. One year after surgery, weight loss of 20 ‍kg, progressive muscle atrophy and weakness in the extremities, paralytic dysarthria, and fasciculation in the bilateral anterior thighs were observed, and needle electromyography showed acute denervation and chronic denervation in the medial vastus muscle. The rapid postoperative progression of symptoms and lower motor neuron symptoms in the lower extremities could not be explained by syringomyelia associated with Chiari type I malformation and were considered a possible complication of amyotrophic lateral sclerosis (ALS). It is possible that the surgery may have caused ALS progression, and attention to the rate of progression of neurologic symptoms may be important in the diagnosis of ALS complications.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of heparin-induced thrombocytopenia (HIT) developing into seizure and respiratory arrest caused by continuous intravenous heparin infusion for multiple cerebral infarcts].","authors":"Naohiko Seike, Yasuyuki Matsuno, Taiji Ishii, Takashi Mizobe, Hideo Aihara, Kunimitsu Kawahara, Toshiyuki Uehara","doi":"10.5692/clinicalneurol.cn-002062","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002062","url":null,"abstract":"<p><p>A 67-year-old man who was on medication for hypertension and unstable angina pectoris developed mild left hemiparesis on day X-1. He made an emergency call at 4 am on day X due to persistent symptoms. Brain magnetic resonance imaging performing following admission showed multiple acute cerebral infarcts, resulting in the initiation of treatment by continuous intravenous heparin was started. One hour later, after initial heparinization, he developed generalized seizure and stopped breathing on echocardiography. Emergency tracheal intubation was performed, and contrast-enhanced brain computed tomography showed hypoperfusion of the right middle cerebral artery; consequently, we performed mechanical thrombectomy. During emergency thrombectomy, multiple new thrombi were observed on cerebral angiography. We suspected heparin-induced thrombosis (HIT), and therefore changed heparin treatment to argatroban, following which the thrombi disappeared immediately. The diagnosis of HIT was comfirmed by complete blood count and serological examination, which revealed thrombocytopenia and anti-HIT antibodies, respectively. As was observed in our patient, spontaneous HIT without recent exposure to heparin can occur in rare circumstances; as such, heparin treatment should be administered with caution. As mechanical thrombectomy is usually performed under heparinization, it is important to consider the risk of HIT in cases of new thrombi during thrombectomy.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of unilateral chorea associated with cortical infarction with transient cortical and striatal hyperperfusion].","authors":"Yuta Madokoro, Hiroyasu Inoue, Teppei Fujioka, Masayuki Mizuno, Masahiro Oomura, Noriyuki Matsukawa","doi":"10.5692/clinicalneurol.cn-002037","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002037","url":null,"abstract":"<p><p>Although disruption of basal ganglia loops due to reduced cortical blood flow has been postulated as a possible mechanism for chorea after cortical infarction, detailed studies have not been conducted. We report a case of cardiogenic cerebral embolism of the right frontal to insular cortex due to occlusion of the right M2 branch, followed by the appearance of chorea in the left upper limb on the next day, recanalization of the occluded vessel, and hyperperfusion detected in the same area of brain via single-photon emission computed tomography (SPECT). Interestingly, the blood flow to the right striatum, which was not infarcted, was increased; however, this was not observed after the disappearance of chorea. We speculated that hyperperfusion after cortical infarction affected the striatum, which resulted in the emergence of chorea. In addition to cortical infarction, increased cortical blood flow due to recanalization should be considered as a possible mechanism for chorea development due to cortical infarction.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Is neurofilament light chain useful as a disease progression marker for ATTRv amyloidosis? A literature review].","authors":"Yoshiki Sekijima, Mitsuharu Ueda, Kentaro Takahashi, Hiroaki Kitaoka","doi":"10.5692/clinicalneurol.cn-002063","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002063","url":null,"abstract":"<p><p>ATTRv amyloidosis is an autosomal-dominant disorder characterized by mutations in the transthyretin (TTR) gene, systemic deposition of transthyretin amyloid fibrils, and progressive polyneuropathy. Current scoring systems developed for ATTRv amyloidosis to measure the severity of polyneuropathy are not sufficiently sensitive or are difficult to implement in daily practice. Results of phase 3 trials for oligonucleotide therapeutics and real-world evidence have shown that neurofilament light chain (NfL), a key structural component of axons, is a reliable blood biomarker for assessing disease progression and treatment response in patients with ATTRv amyloidosis with polyneuropathy. Because blood NfL levels can be affected by factors such as age, body mass index (BMI), and renal function, its significance in patient monitoring needs to be assessed carefully while considering the clinical characteristics of each patient.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Severe eosinophilic granulomatosis with polyangiitis-related peripheral neuropathy after the cessation of mepolizumab. A case report].","authors":"Tomoki Kawasaki, Akiko Tamura, Masunari Shibata, Kazuto Nishinaka, Satoko Nozato, Fukashi Udaka","doi":"10.5692/clinicalneurol.cn-001992","DOIUrl":"10.5692/clinicalneurol.cn-001992","url":null,"abstract":"<p><p>A 78-years-old man was treated for asthma and pansinusitis for >5 years, and mepolizumab was initiated two years previously. Two months after the cessation of mepolizumab treatment, the asthma symptoms worsened and acute progressive muscle weakness and sensory disturbance developed. On day 8 after the onset of weakness and hypoesthesia, the patient presented with complete flaccid tetraplegia and diffuse hypoesthesia of all extremities, without paresthesia or pain, and was admitted to our hospital. Blood tests revealed eosinophilia without anti-neutrophil cytoplasmic antibody elevation. Nerve conduction studies revealed severe axonal polyneuropathy and multifocal absent F-waves. Cerebrospinal fluid was normal. Eosinophilic granulomatosis with polyangiitis (EGPA) and Guillain-Barré syndrome (GBS) were suspected, and high-dose methylprednisolone was administered, followed by oral prednisolone. Eosinophils rapidly disappeared; however, the neurological symptoms did not improve. On day 16, sural nerve biopsy revealed myelinated fiber loss in most of the fibers in every nerve bundle regardless of fiber size, while eosinophilic infiltration in the epineurium and findings suggestive of necrotizing vasculitis were not observed. The results did not fulfill the pathological criteria for EGPA but supported the changes in vasculitis; hence, EGPA was diagnosed. Intravenous immunoglobulin, azathioprine, and rituximab were administered, and the prednisolone dose was gradually reduced to 10 ‍mg/d. The eosinophil count increased to 50/μl without pneumonia recurrence or worsening asthma. Neuropathy in the upper limbs gradually improved over two years, whereas that in the lower limbs did not change. This is the first reported case of sequential exacerbation of asthma and onset of EGPA after mepolizumab discontinuation. Among patients with asthma, the cessation of mepolizumab treatment may lead to the development of EGPA with an atypical clinical course, such as rapidly progressive severe neuropathy mimicking GBS.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"108-114"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].","authors":"Yusuke Baba, Meiko Maeda, Kyosuke Muramatsu, Kenta Tominaga, Kunihiro Ueda, Shogo Komaki, Yoshihiko Saito, Masashi Hamada, Wataru Satake, Ichizo Nishino, Tatsushi Toda","doi":"10.5692/clinicalneurol.cn-002046","DOIUrl":"10.5692/clinicalneurol.cn-002046","url":null,"abstract":"<p><p>The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with \"non-Fukuyama congenital muscular dystrophy\" via muscle biopsy. Difficulties in independent walking and standing emerged by 14 years of age, progressing to significant mobility challenges by 21 years of age. The patient was referred to our department at 33 years of age for the transition to adult care. The examination revealed predominant trunk muscle weakness, persistent scoliosis, restricted neck and trunk mobility, significant restrictive ventilatory impairment, and mild intellectual developmental delay. Reanalysis of the muscle biopsy pathology was conducted, and genetic testing identified a known homozygous mutation, c.1574T>G (p.M525R), in the SELENON (SEPN1) gene, leading to a diagnosis of SELENON-related myopathy. The pediatric-to-adult healthcare transition can provide a valuable opportunity for the reassessment of diagnoses and disabilities.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"139-145"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Two cases of Perry disease (Perry syndrome) in the same family with normal ¹²³I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy].","authors":"Yoshito Take, Ryuji Saigo, Hitoshi Arata, Yusuke Sakiyama, Kimiyoshi Arimura, Hideki Ohkatsu","doi":"10.5692/clinicalneurol.cn-001995","DOIUrl":"10.5692/clinicalneurol.cn-001995","url":null,"abstract":"<p><p>This study investigated two cases. Case 1 involves a 53-year-old man who suffered from sleep apnea syndrome at age 48. Moreover, he was involved in a rear-end collision while driving and was admitted to the hospital at age. He exhibited impaired consciousness, postural tremors, and bradykinesia in the upper extremities. Subsequently, he was managed on a ventilator due to unexplained alveolar hypoventilation. Case 2 is his younger sister, a 46-year-old woman, who was being treated for depression and began to show signs of parkinsonism around age 43. The metaiodobenzylguanidine (MIBG) myocardial scintigraphy results were normal in both cases. Given that their father was also managed on a ventilator due to unexplained alveolar hypoventilation, exome analyses were performed. Both were found to have a previously reported heterozygous mutation (p.Y78C) in the DCTN1 gene and were diagnosed with Perry disease. Although MIBG myocardial scintigraphy is a useful test for diagnosing Perry disease, it is important to note that there are cases where it may yield normal results.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"115-119"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan].","authors":"Yuka Shibata, Hyangri Chang, Katsuya Nakamura, Shinichiro Yamada, Masaaki Matsushima, Kazumasa Saigoh, Hiroyuki Ishiura, Yoshiki Sekijima, Hirofumi Maruyama, Takeshi Ikeuchi, Kazuko Hasegawa, Masashi Aoki, Masahisa Katsuno, Tatsushi Toda, Ichiro Yabe","doi":"10.5692/clinicalneurol.cn-002049","DOIUrl":"10.5692/clinicalneurol.cn-002049","url":null,"abstract":"<p><p>In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society. During their development, Delphi surveys were conducted among individuals with extensive experience in presymptomatic testing throughout Japan, with 42 experts participating in all three surveys, and a consensus-building process was undertaken. Finally, the guidelines consist of 45 recommendations for performing presymptomatic testing for adult-onset inherited neurological and muscular diseases.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"101-107"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}