Clinical Neurology最新文献_第2页

[A case of diagnosed pernicious anemia and subacute combined degeneration of the spinal cord with abnormally elevated serum vitamin B12]. [一例确诊为恶性贫血和脊髓亚急性联合变性且血清维生素 B12 异常升高的病例]。

Clinical Neurology Pub Date : 2025-01-29 DOI: 10.5692/clinicalneurol.cn-002023

Kazuaki Hirakata, Yoshito Ishii, Tamaki Yoshida, Fumiaki Tanaka, Yoshiharu Nakae

引用次数: 0

[Detection of brain MRI abnormalities before symptom onset in case of Creutzfeldt-Jakob disease with compound heterozygous PRNP mutation (V180I/M232R)].

Clinical Neurology Pub Date : 2025-01-29 DOI: 10.5692/clinicalneurol.cn-002025

Kyotaro Miura, Yoshitsugu Nakamura, Shoji Ogawa, Katsuya Satoh, Tetsuyuki Kitamoto, Shigeki Arawaka

引用次数: 0

[Case of ictal aphasia and post-ictal aphasia due to focal epilepsy associated with cerebral hemorrhage]. 局灶性癫痫并发脑出血致发作性失语及发作后失语1例。

Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-18 DOI: 10.5692/clinicalneurol.cn-001954

Arisa Yamamoto, Kosuke Yoshida, Yasuhiro Suzuki, Kenji Kuroda, Takashi Kimura, Yoko Aburakawa

引用次数: 0

[Rheumatoid meningitis without arthritis presenting as widespread symmetrical high-‍intensity lesions along cerebral sulci on diffusion-weighted MRI: a case report]. [无关节炎的类风湿性脑膜炎在弥散加权MRI上表现为沿脑沟广泛对称的高‍强度病变：1例报告]。

Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-18 DOI: 10.5692/clinicalneurol.cn-002022

Takanobu Kita, Hiroaki Okada, Seiji Takenouchi, Yoshiyuki Nakai, Masahiro Kanai, Keiji Yamaguchi

引用次数: 0

Clinical Neurology Pub Date : 2025-01-24 DOI: 10.5692/clinicalneurol.cn-002046

Yusuke Baba, Meiko Maeda, Kyosuke Muramatsu, Kenta Tominaga, Nunihiro Ueda, Shogo Komaki, Yoshihiko Saito, Masashi Hamada, Wataru Satake, Ichizo Nishino, Tatsushi Toda

{"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, Nunihiro Ueda, Shogo Komaki, Yoshihiko Saito, Masashi Hamada, Wataru Satake, Ichizo Nishino, Tatsushi Toda","doi":"10.5692/clinicalneurol.cn-002046","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002046","url":null,"abstract":"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.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","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}

引用次数: 0

[Two cases of Perry disease (Perry syndrome) in the same family with normal ¹²³I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy].

Clinical Neurology Pub Date : 2025-01-24 DOI: 10.5692/clinicalneurol.cn-001995

Yoshito Take, Ryuji Saigo, Hitoshi Arata, Yusuke Sakiyama, Kimiyoshi Arimura, Hideki Ohkatsu

{"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":"https://doi.org/10.5692/clinicalneurol.cn-001995","url":null,"abstract":"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.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","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}

引用次数: 0

[Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan].

Clinical Neurology Pub Date : 2025-01-24 DOI: 10.5692/clinicalneurol.cn-002049

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

{"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":"https://doi.org/10.5692/clinicalneurol.cn-002049","url":null,"abstract":"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.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","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}

引用次数: 0

[An adult case of Dravet syndrome in which seizures worsened after discontinuation of lamotrigine and administration of stiripentol].

Clinical Neurology Pub Date : 2025-01-24 DOI: 10.5692/clinicalneurol.cn-002000

Shinji Itamura, Kasumi Sasaki, Rika Okano

引用次数: 0

Clinical Neurology Pub Date : 2025-01-01 DOI: 10.5692/clinicalneurol.65_1_facilities1

引用次数: 0

[The Proceedings of the 170th Tokai-Hokuriku Regional Meeting of the Japanese Society of Neurology]. [日本神经病学学会第 170 届东海-北陆地区会议论文集]。

Clinical Neurology Pub Date : 2025-01-01 DOI: 10.5692/clinicalneurol.65_1_proceedings3

引用次数: 0