Clinical Neurology最新文献

Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN). 新型WDR45变体导致的不对称帕金森病，伴有β-螺旋桨蛋白相关神经变性（BPAN）。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-12 DOI: 10.5692/clinicalneurol.cn-002015

Syuichi Tetsuka, Tomoko Ogawa, Marina Mizobe, Kazuhiro Muramatsu

{"title":"Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN).","authors":"Syuichi Tetsuka, Tomoko Ogawa, Marina Mizobe, Kazuhiro Muramatsu","doi":"10.5692/clinicalneurol.cn-002015","DOIUrl":"10.5692/clinicalneurol.cn-002015","url":null,"abstract":"Beta-propeller protein-associated neurodegeneration (BPAN) encompasses a group of refractory neurodegenerative diseases that are caused by excessive iron deposition in the brain, especially in the basal ganglia. We reported a case of BPAN with a novel variant of the WDR45 gene at Xp11.23. Our patient was a 31-year-old woman who has had an intellectual disability since childhood. Approximately 3 years ago, she developed asymmetric parkinsonism affecting the distal right upper and lower limbs. Consistent with her neurological findings, dopamine transporter single-photon emission computed tomography demonstrated the differences between the left and right sides. She was diagnosed as BPAN according to genetic analysis, which showed a novel heterozygous variant (c.345-3C>G) in WDR45. To the best of our knowledge, only a few previous case reports on asymmetric BPAN have described the quantitative differences in neuroimaging parameters between the left and right sides. These neuroimaging features were similar to those of Parkinson's disease, among the other neurodegenerative diseases. Our report may provide clues to elucidate the pathological mechanism of BPAN which is a refractory neurodegenerative disease.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"802-806"},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476982","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

[A case of amyotrophic lateral sclerosis managed by tracheostomy and invasive ventilation in which air leaks occurred at the cuff]. [一例通过气管造口术和有创通气治疗的肌萎缩性脊髓侧索硬化症患者，其袖带处出现漏气]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-19 DOI: 10.5692/clinicalneurol.cn-001990

Nobuhiko Shibasaki, Kaoru Konishi, Yutaka Nishiyama, Tetsuo Miyagawa, Takaya Numayama

引用次数: 0

[Pathophysiology of vertebral artery stump syndrome]. [椎动脉残端综合征的病理生理学]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-13 DOI: 10.5692/clinicalneurol.cn-002042

Miharu Yanagida, Yasushi Hosoi, Tatsuhiro Kawano, Yusuke Otake, Hiramatsu Hisaya, Michiko Ito

引用次数: 0

[Pathophysiology of vertebral artery stump syndrome]. [椎动脉残端综合征的病理生理学]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-13 DOI: 10.5692/clinicalneurol.cn-002003

Hiroyuki Kawano, Teruyuki Hirano

引用次数: 0

[A case of primary central nervous system post-transplant lymphoproliferative disease 14 years after living donor liver transplantation]. [活体肝移植 14 年后的一例原发性中枢神经系统移植后淋巴增生性疾病】。］

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-19 DOI: 10.5692/clinicalneurol.cn-001991

Hiroaki Otsuka, Tomoaki Shima, Koichi Yoshida, Hirokazu Kurohama, Akira Tsujino

引用次数: 0

[An adult case of adenovirus type 3 infection presenting as clinically mild encephalitis/encephalopathy with a reversible splenial lesion and increased IL-6 levels in the cerebrospinal fluid]. [一例成人腺病毒 3 型感染病例，临床表现为轻度脑炎/脑病，脾脏病变可逆，脑脊液中 IL-6 水平升高]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-12 DOI: 10.5692/clinicalneurol.cn-002020

Yasutake Tada, Hiroyasu Kaya, Keisuke Shima

引用次数: 0

Meningeal carcinomatosis causing paroxysmal and reversible right midbrain symptoms: a case report. 脑膜癌导致阵发性和可逆性右中脑症状：病例报告。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-12 DOI: 10.5692/clinicalneurol.cn-001959

Haruna Akanuma, Suguru Kadowaki

引用次数: 0

[Five-year outcomes in patients with ischemic stroke or transient ischemic attack after widespread use of direct oral anticoagulants]. [广泛使用直接口服抗凝剂后缺血性中风或短暂性脑缺血发作患者的五年预后]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-12 DOI: 10.5692/clinicalneurol.cn-001988

Yoshinari Nagakane, Eijirou Tanaka, Takehiro Yamada, Masashi Hamanaka, Jun Fujinami, Shinji Ashida, Yuta Kojima, Keiko Maezono-Kandori, Shiori Ogura, Yasumasa Yamamoto

{"title":"[Five-year outcomes in patients with ischemic stroke or transient ischemic attack after widespread use of direct oral anticoagulants].","authors":"Yoshinari Nagakane, Eijirou Tanaka, Takehiro Yamada, Masashi Hamanaka, Jun Fujinami, Shinji Ashida, Yuta Kojima, Keiko Maezono-Kandori, Shiori Ogura, Yasumasa Yamamoto","doi":"10.5692/clinicalneurol.cn-001988","DOIUrl":"10.5692/clinicalneurol.cn-001988","url":null,"abstract":"The long-term outcomes of patients with stroke or transient ischemic attack (TIA) after widespread use of direct oral anticoagulants (DOACs) were investigated. Patients with ischemic stroke or TIA admitted between April 2014 and September 2015 were prospectively enrolled and followed for up to 5 years after the index stroke or TIA. Primary outcome measures were any cause of death and stroke recurrence. A total of 555 consecutive patients (323 men; mean age, 75 years; ischemic stroke, n = 520; TIA, n = 35) were analyzed. The follow-up rate was 93%, and the mean follow-up period was 48 ± 20 months. DOACs accounted for 52% of anticoagulants at discharge. During follow-up, 162 patients died, for cumulative mortality rates of 30% (particularly, 53% in cardioembolism) at 5 years. Recurrent stroke occurred in 90 patients, with cumulative risks of stroke recurrence of 19% at 5 years. The 5-year mortality rate remain even after widespread use of DOACs, and further treatment approaches are warranted.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"781-788"},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476979","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

[A case of propriospinal myoclonus at sleep onset in which video-polysomnography with additional surface electromyogram was useful for diagnosis]. [一例睡眠开始时出现本体脊髓肌阵挛的病例，其视频多导睡眠图和附加的表面肌电图有助于诊断]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-19 DOI: 10.5692/clinicalneurol.cn-001951

Yoko Fujii, Mutsumi Okura, Yaeko Kashiwai, Mitsutaka Taniguchi, Motoharu Ohi

{"title":"[A case of propriospinal myoclonus at sleep onset in which video-polysomnography with additional surface electromyogram was useful for diagnosis].","authors":"Yoko Fujii, Mutsumi Okura, Yaeko Kashiwai, Mitsutaka Taniguchi, Motoharu Ohi","doi":"10.5692/clinicalneurol.cn-001951","DOIUrl":"10.5692/clinicalneurol.cn-001951","url":null,"abstract":"Propriospinal myoclonus at sleep onset (PSM-S) is a sudden myoclonic jerk that occurs during the transition from wakefulness to sleep. It is a sleep-related movement disorder that causes difficulty falling asleep due to involuntary movements that spread caudally and rostrally through the propriospinal tract. Diagnosis requires observation of movements and polysomnography (PSG), and there are few reports. An 80-year-old man was referred to our center for insomnia due to abdominal movements at sleep onset. During the EEG test, we observed the caudal and rostral propagation of movements emanating from the abdomen. Attended video-PSG with additional surface electromyography revealed that myoclonic jerks occurred during the transition from wake to stage N1 and disappeared during sleep stage N2. EMG activity originated from the rectus abdominis muscle, followed by rostral and caudal propagation. Here, we report a case demonstrating that PSG with additional surface electromyography is important and useful for the diagnosis of PMS at sleep onset.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"813-817"},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476977","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

[Early diagnosis of a long spinal cord infarction lesion based on concurrent erector spinae muscle infarction: a case report]. [根据同时发生的竖脊肌梗死早期诊断长脊髓梗死病变：病例报告]。

Clinical Neurology Pub Date : 2024-11-21 DOI: 10.5692/clinicalneurol.cn-002029

Takuma Kato, Keisuke Imai, Takehiro Yamada, Masanori Cho, Toshi Sai, Tetsuya Ioku

{"title":"[Early diagnosis of a long spinal cord infarction lesion based on concurrent erector spinae muscle infarction: a case report].","authors":"Takuma Kato, Keisuke Imai, Takehiro Yamada, Masanori Cho, Toshi Sai, Tetsuya Ioku","doi":"10.5692/clinicalneurol.cn-002029","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002029","url":null,"abstract":"We present a case of a 53-year-old man who was admitted with lower back pain and bilateral lower limb weakness. Neurologically, he exhibited paralysis of both lower limbs, complete sensory loss below the 10th thoracic spinal level, and bladder and rectal dysfunction. Spinal MRI revealed intramedullary high-signal lesions extending from the 10th vertebral level to the conus medullaris on diffusion-weighted and T2-weighted images. By the 10th day, the extensive intramedullary lesion had progressed to the 2nd vertebral level. Although aortic angiography on the 3rd day showed no vascular abnormalities, concurrent infarction of the paraspinal muscles at the 2nd lumbar vertebral level was confirmed. Based on the spinal vascular anatomy, it was deduced that both the spinal cord and the paraspinal muscle lesions had the same vascular etiology. Therefore, the spinal cord lesion was diagnosed early as spinal cord infarction. In cases of acute spinal symptoms, the coexistence of paraspinal muscle infarction observed on contrast-enhanced CT can assist in diagnosing spinal cord infarction.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682938","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