Journal of Clinical Neuromuscular Disease最新文献_第7页

A Case Series Examining Clinic, Laboratory, and Physical Function After Administration of Nusinersen in Adults With Spinal Muscular Atrophy, a Single-Center Study. 单中心研究：对成人脊髓性肌肉萎缩症患者服用奴西能生后的临床、实验室和身体功能进行检查的病例系列。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000512

Tulio Bertorini, Janna Knickerbocker, Hagar Anwar, William Mays, Kimberly Carter, E Jeffrey Metter, Laura A Talbot

{"title":"A Case Series Examining Clinic, Laboratory, and Physical Function After Administration of Nusinersen in Adults With Spinal Muscular Atrophy, a Single-Center Study.","authors":"Tulio Bertorini, Janna Knickerbocker, Hagar Anwar, William Mays, Kimberly Carter, E Jeffrey Metter, Laura A Talbot","doi":"10.1097/CND.0000000000000512","DOIUrl":"10.1097/CND.0000000000000512","url":null,"abstract":"Abstract: Spinal muscular atrophy is an incurable inherited disease caused by lower motor neuron death from mutations of the survival motor neuron genes. Intrathecal therapy with the antisense oligonucleotide, nusinersen, has been demonstrated to be beneficial in children with this disease, but the experience in adults, particularly ambulatory patients, is limited. We present a prospective observational case series from a single center using nusinersen therapy where we categorize 6 adult patients with spinal muscular atrophy into 2 functional categories: ambulatory (n = 3) or nonambulatory (n = 3). All received therapy that was administered intrathecally every 4 months. We monitored the course and laboratory data for 1 year and observed for side effects. There was no significant deterioration for 1 year. There was some minor improvement particularly in subjective changes. The benefit seems to decrease after 3 months. No significant complications were observed.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 2","pages":"82-89"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733177","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

Progressive Acute Onset Demyelinating Polyneuropathy in a 64-Year-Old Man. 一名 64 岁男性的进行性急性脱髓鞘多发性神经病

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000499

Seyed Jalaleddin Hadei, Bardiya Ghaderi Yazdi, Soroor Advani, Ali Asghar Okhovat

引用次数: 0

What Is in the Neuromuscular Junction Literature? 神经肌肉接头文献中有哪些内容？

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000504

David Lacomis

引用次数: 0

Ultrasonography of Recurrent Brachial Plexopathies in Hereditary Neuropathy With Liability to Pressure Palsies. 遗传性压迫性神经病复发性臂丛神经病的超声波检查。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000503

James B Meiling, Araya Puwanant, Marisa Barclay Mcghee

引用次数: 0

Small-Vessel Vasculitis or Perifolliculitis in Small-Fiber Neuropathy With TS-HDS, FGFR-3, or Plexin D1 Antibodies. 带有 TS-HDS、FGFR-3 或 Plexin D1 抗体的小纤维神经病中的小血管炎或毛周炎

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000492

Lawrence A Zeidman, Todd Levine, John Cangelosi

{"title":"Small-Vessel Vasculitis or Perifolliculitis in Small-Fiber Neuropathy With TS-HDS, FGFR-3, or Plexin D1 Antibodies.","authors":"Lawrence A Zeidman, Todd Levine, John Cangelosi","doi":"10.1097/CND.0000000000000492","DOIUrl":"10.1097/CND.0000000000000492","url":null,"abstract":"Introduction: Small-fiber neuropathy (SFN) is highly prevalent but often idiopathic. TS-HDS, FGFR-3, and Plexin D1 autoantibodies (seropositive) may be present in more than 40% of idiopathic cases. Another autoimmune biomarker is a non-length-dependent (NLD) skin biopsy pattern. Our goal was to demonstrate that small-vessel vasculitis and perifolliculitis (inflammation) on skin biopsies are additional biomarkers.Methods: All pure SFN skin biopsy reports were reviewed for inflammation, and their charts were examined for other relevant history.Results: Seven of 80 patients with pure SFN had inflammation (8.8%); 5 patients were female (71%) and 2 were male (29%); average age was 45 (16-67). All 7 patients with inflammation were seropositive (100%, P = 0.0495), and 6 patients (86%) had either NLD inflammation or NLD pathology (P = 0.0003).Discussion: Inflammation is present only in a small portion of punch biopsies, but may be another autoimmune SFN biomarker. It is strongly associated with seropositivity and NLD-pathology. Further studies are likely indicated to assess inflammation pathophysiology and immunotherapy responsiveness.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 2","pages":"63-69"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733284","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 Initial Diagnosis of the Myopathic Form of Carnitine Palmitoyl Transferase Type II Deficiency Made in a 65-year-Old. 肉碱棕榈酰转移酶 II 型缺乏症肌病形式在一名 65 岁老人身上的初步诊断。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000506

Floyd D Silva, Elina Zakin

引用次数: 0

Diagnostic Difficulty in a Girl With Anti-Signal Recognition Particle Myopathy With a Slow Progressive Course. 一名女孩的抗信号识别粒子肌病诊断困难，且病程进展缓慢。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000489

Ken Imai, Takenori Nastume, Maki Shirai, Mistuo Motobayashi, Akihiko Ishiyama, Shigeaki Suzuki, Ichizo Nishino, Akinori Nakamura, Yuji Inaba

引用次数: 0

Progressive Multifocal Leukoencephalopathy in Myasthenia Gravis With Selective Hypogammaglobulinemia. 伴有选择性低丙种球蛋白血症的肌无力 Gravis 进行性多灶性白质脑病

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000497

Rachana K Gandhi Mehta, James B Meiling

引用次数: 0

Seronegative Isaac Syndrome Presenting as Focal Limb Stiffness Responsive to Plasma Exchange Therapy. 血清阴性艾萨克综合征表现为局部肢体僵硬，对血浆置换疗法有反应。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000488

Nadia Khalil, Andrea Medina, Anthony Bradshaw

引用次数: 0

Utility of the Repetitive Nerve Stimulation Test and Needle EMG in the Trapezius Muscle for the Early Diagnosis of ALS. 重复神经刺激测试和斜方肌针刺肌电图在早期诊断渐冻人症中的实用性。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000479

Kazusa Takahashi, Yuichi Hamada, Masahito Kobayashi, Shunsuke Kobayashi, Takamichi Kanbayashi, Yuki Hatanaka, Takahiro Nakayama, Ichiro Imafuku, Hiromasa Matsuno, Yasuyuki Iguchi, Fumiaki Katada, Toshio Fukutake, Tetsuo Ando, Takashi Mikata, Toru Usui, Katsuyuki Uchino, Kazutoshi Nishiyama, Masahiro Sonoo

{"title":"Utility of the Repetitive Nerve Stimulation Test and Needle EMG in the Trapezius Muscle for the Early Diagnosis of ALS.","authors":"Kazusa Takahashi, Yuichi Hamada, Masahito Kobayashi, Shunsuke Kobayashi, Takamichi Kanbayashi, Yuki Hatanaka, Takahiro Nakayama, Ichiro Imafuku, Hiromasa Matsuno, Yasuyuki Iguchi, Fumiaki Katada, Toshio Fukutake, Tetsuo Ando, Takashi Mikata, Toru Usui, Katsuyuki Uchino, Kazutoshi Nishiyama, Masahiro Sonoo","doi":"10.1097/CND.0000000000000479","DOIUrl":"10.1097/CND.0000000000000479","url":null,"abstract":"Objectives: To document the utility of decremental responses in the repetitive nerve stimulation test (RNS) and spontaneous activities in needle electromyography (EMG) in the trapezius muscle for the diagnosis of amyotrophic lateral sclerosis.Methods: Subjects were retrospectively identified from our EMG database. Cervical spondylosis was represented as a disease control group. We investigated the sensitivity and specificity of RNS and EMG in the trapezius muscle and those of diagnostic criteria including the Gold Coast criteria (GCC).Results: We reviewed 120 patients with amyotrophic lateral sclerosis and 17 patients with cervical spondylosis. \"RNS or EMG\" achieved the highest sensitivity (85%). The specificity was the highest for RNS (94%). Addition of RNS of the deltoid muscle achieved 98% sensitivity in the upper-limb onset amyotrophic lateral sclerosis. The sensitivity of the GCC was very high (88%).Conclusions: Neurophysiological parameters investigated in this study having close to 100% specificities or sensitivities are useful as complements to the GCC.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009646","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