Journal of Clinical Neuromuscular Disease最新文献

{"title":"Progressive Multifocal Leukoencephalopathy in Myasthenia Gravis With Selective Hypogammaglobulinemia.","authors":"Rachana K Gandhi Mehta, James B Meiling","doi":"10.1097/CND.0000000000000497","DOIUrl":"10.1097/CND.0000000000000497","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"48-49"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009644","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":"Acute Multiple Cranial Neuropathies in Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report and Scoping Review of the Literature.","authors":"Shima Shahjouei, Michelle Calmet, James Grogan, Mansoureh Mamarabadi","doi":"10.1097/CND.0000000000000495","DOIUrl":"10.1097/CND.0000000000000495","url":null,"abstract":"<p><strong>Objectives: </strong>Cranial nerve (CN) involvement is not a common feature of typical chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with acute presentation of CN palsy in CIDP may be misdiagnosed and treated as other pathologies.</p><p><strong>Methods: </strong>We report a patient with multiple cranial neuropathies at the onset of CIDP in detail. In addition, we reviewed a large cohort of patients with CN involvement in CIDP and summarized their characteristics and clinical findings.</p><p><strong>Results: </strong>We presented a 28-year-old woman who presented with progressive weakness and involvement of CN III, VII, X, XII in the subacute phase who was diagnosed as CIDP and was treated accordingly. A scoping review of the literature resulted in a total of 59 patients with available patient-level data [61.2% men, median age of 32 (Q1-Q3; 20-51.5) years]. CN impairment was present in the acute phase of the polyneuropathy in 10 out of 43 patients (23.3%), while it took a median of 7.7 [Q1-Q3; 3-13] years for other patients to present CN palsy. Sensitivity analysis did not reveal any difference among patients with acute-phase presentation of CN symptoms (N = 11) compared with those with delayed CN palsy (N = 33) in terms of demographics, patterns of CN involvement, associated diminished sensorimotor findings, or relapse. However, patients with acute presentation of CN palsy underwent plasmapheresis approximately 4 times more than those with delayed CN presentations (45.5% vs. 12.1%, P = 0.02).</p><p><strong>Conclusion: </strong>In this case presentation and review study, we observed that in one-fourth of patients with CIDP and CN neuropathy, CN involvement occurred in the acute phase. This finding indicates the necessity of considering CIDP among differential diagnoses of patients with CN involvement and polyneuropathies.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"32-41"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009640","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":"Fluoroquinolone-Induced Demyelinating Polyneuropathy.","authors":"Mustafa Al-Chalabi, Armando Martinez Salazar, Anthony Bradshaw","doi":"10.1097/CND.0000000000000496","DOIUrl":"10.1097/CND.0000000000000496","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"49-53"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009643","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":"Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.","authors":"Nicholas Purcell, Georgios Manousakis","doi":"10.1097/CND.0000000000000501","DOIUrl":"10.1097/CND.0000000000000501","url":null,"abstract":"<p><strong>Abstract: </strong>Welander distal myopathy is a rare myopathy with prominent and early involvement of distal upper extremity muscles, prevalent in individuals of Scandinavian origin, and caused by a founder mutation in the cytotoxic granule-associated RNA-binding protein (T-cell intracellular antigen-1; TIA1), E384K. Different pathogenic variants in the TIA1 gene, distinct from the founder 1, have recently been associated with frontotemporal dementia and amyotrophic lateral sclerosis (ALS), suggesting that TIA1-related disorders belong to the group of multisystem proteinopathies. We describe the first case of a two-generation family with the founder E384K TIA1 mutation demonstrating phenotypic variability; the mother manifested as Welander myopathy, whereas 2 daughters manifested as ALS. No other genetic cause of ALS was found in 1 of the affected daughters. We also discuss the possible mechanisms explaining this pleotropic presentation of the founder mutation.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"42-46"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009642","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":"Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings.","authors":"Vanessa Dwairi, Alaina Giacobbe, Sasa Zivkovic, David Lacomis","doi":"10.1097/CND.0000000000000500","DOIUrl":"10.1097/CND.0000000000000500","url":null,"abstract":"<p><strong>Abstract: </strong>X-linked myopathy with excessive autophagy is a rare disorder caused by a mutation in the vacuolar ATPase assembly factor gene which causes slowly progressive early onset proximal weakness and loss of ambulation by the age of 50-70 years. Electrodiagnostic (EDx) testing usually shows widespread complex repetitive and myotonic discharges, even in muscles unaffected clinically. We report a 65-year-old man who presented with progressive proximal weakness since his teenage years. Extensive workup over 30 years revealed inconclusive EDx and muscle histopathology findings. The diagnosis was finally made with genetic testing. Subsequent neuromuscular ultrasound was more informative of disease severity than repeat EDx and directed a muscle biopsy that showed an autophagic vacuolar myopathy and the novel identification of vacuoles in capillary endothelial cells. Although genetic testing is required for confirmation, in milder cases of X-linked myopathy with excessive autophagy, neuromuscular ultrasound may aid in diagnosis even when EDx findings are inconclusive.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"12-15"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009641","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":"Effectiveness of IVIG on Non-Length-Dependent Skin Biopsies in Small Fiber Neuropathy With Plexin D1, Trisulfated Heparin Disaccharide, and Fibroblast Growth Factor Receptor 3 Autoantibodies.","authors":"Lawrence A Zeidman","doi":"10.1097/CND.0000000000000485","DOIUrl":"10.1097/CND.0000000000000485","url":null,"abstract":"<p><strong>Objectives: </strong>To demonstrate treatment efficacy on composite and non-length-dependent (NLD) punch biopsy specimens from intravenous immunoglobulin (IVIG) in pure small-fiber neuropathy (SFN) with trisulfated heparin disaccharide (TS-HDS), fibroblast growth factor-3 (FGFR-3), or Plexin D1 antibodies. SFN has an increasing prevalence, and over 30% of cases may be immune-mediated. TS-HDS, FGFR-3, and Plexin D1 autoantibodies have been shown to be present in 44%-55% of cryptogenic SFN cases, suggesting an immune mechanism. Reports have shown IVIG to be effective for this condition, but some controversy exists based on length-dependent (LD) post-IVIG treatment data in a recent trial.</p><p><strong>Methods: </strong>In a retrospective review, all pure SFN cases tested for the 3 antibodies from January 2021 to May 2022 were tabulated, and patients who underwent IVIG treatment were separated and analyzed for changes in epidermal nerve fiber density (ENFD) on skin biopsy, as well as SFN-specific questionnaire and pain scores.</p><p><strong>Results: </strong>Ninety-one patients with pure SFN had antibody testing. Sixty of these (66%) were seropositive, and 31 (34%) were seronegative. Seventeen seropositive patients (13 female patients, 4 male patients, 6 FGFR-3, 2 TS-HDS, 4 Plexin D1, 2 with all 3 antibodies, 1 with FGFR-3 and Plexin D1, 1 with FGFR-3 and TS-HDS, and 1 with TS-HDS and Plexin D1) underwent IVIG treatment. Of these, 2 patients stopped treatment due to side effects, and the remaining 15 completed at least 6 months of IVIG. Of these, 12 had a post-IVIG skin biopsy, and of these, 11 (92%) had a 55.1% improved mean composite ENFD (P = 0.01). NLD-ENFD specimens improved by 42.3% (P = 0.02), and LD-ENFD specimens improved by 99.7% (P = 0.01). Composite ENFD in Plexin D1-SFN patients improved by 139% (P = 0.04). In addition, 14 patients had questionnaires pre-IVIG/post-IVIG, and average pain decreased by 2.7 (P = 0.002).</p><p><strong>Conclusions: </strong>IVIG shows disease-modifying effect in immune SFN with novel antibodies, especially Plexin D1-SFN, as well as significantly improved pain. NLD-ENFD should be examined as well as LD-ENFD to see this effect. Further randomized controlled trials looking at NLD-ENFD as well as LD-ENFD improvement, along with pain and SFN-specific questionnaires, are needed to confirm these findings.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 4","pages":"184-196"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072155","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":"The Course of Double Seronegative Myasthenia During Pregnancy May Depend on Diagnostic Criteria and Study Design.","authors":"Josef Finsterer","doi":"10.1097/CND.0000000000000490","DOIUrl":"10.1097/CND.0000000000000490","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 4","pages":"202-203"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072160","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":"Chronic Inflammatory Axonal Polyneuropathy: An Entity by Itself.","authors":"Ali Sreij, Raja Sawaya","doi":"10.1097/CND.0000000000000494","DOIUrl":"10.1097/CND.0000000000000494","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 4","pages":"205-207"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072152","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":"Myopathy With Crescent of Nuclei: A Novel Histopathologic Finding in Desminopathy.","authors":"Andre Granger, Eric J Sorenson, Duygu Selcen, Teerin Liewluck","doi":"10.1097/CND.0000000000000493","DOIUrl":"10.1097/CND.0000000000000493","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 4","pages":"197-198"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072158","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":"Scleroderma-Polymyositis Overlap Syndrome as a Potential Bulbar Amyotrophic Lateral Sclerosis Mimic.","authors":"Alessandra Maccabeo, Emanuela Salustro, Mauro Sanna, Pietro Garau, Maria Antonietta Maioli, Roberta Coa, Monica Puligheddu, Giuseppe Borghero","doi":"10.1097/CND.0000000000000467","DOIUrl":"10.1097/CND.0000000000000467","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 4","pages":"199-200"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072159","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}