Journal of the Peripheral Nervous System最新文献

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Imbalance and lower limb tremor in chronic inflammatory demyelinating polyradiculoneuropathy 慢性炎性脱髓鞘性多根神经病变的失衡和下肢震颤
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-14 DOI: 10.1111/jns.12574
Matthew Silsby, Con Yiannikas, Alessandro F. Fois, Karl Ng, Matthew C. Kiernan, Victor S. C. Fung, Steve Vucic
{"title":"Imbalance and lower limb tremor in chronic inflammatory demyelinating polyradiculoneuropathy","authors":"Matthew Silsby,&nbsp;Con Yiannikas,&nbsp;Alessandro F. Fois,&nbsp;Karl Ng,&nbsp;Matthew C. Kiernan,&nbsp;Victor S. C. Fung,&nbsp;Steve Vucic","doi":"10.1111/jns.12574","DOIUrl":"10.1111/jns.12574","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Imbalance is a prominent symptom of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Although upper limb tremor in CIDP is described, lower limb tremor has not been assessed. The aim of this study was to determine whether lower limb tremor was present in CIDP and assess potential relationships with imbalance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a cross-sectional observational study of prospectively recruited consecutive patients with typical CIDP (<i>N</i> = 25). Clinical phenotyping, lower limb nerve conduction and tremor studies, and posturography analyses were performed. The Berg Balance Scale (BBS) divided CIDP patients into those with “good” and “poor” balance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Lower limb tremor was evident in 32% of CIDP patients and associated with poor balance (BBS<sub>Tremor</sub> 35 [23–46], BBS<sub>No Tremor</sub> 52 [44–55], <i>p</i> = .035). Tremor frequency was 10.2–12.5 Hz with legs outstretched and on standing, apart from four patients with a lower frequency tremor (3.8–4.6 Hz) while standing. Posturography analysis revealed a high-frequency spectral peak in the vertical axis in 44% of CIDP patients (16.0 ± 0.4 Hz). This was more likely in those with “good” balance (40% vs. 4%, <i>p</i> = .013).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Lower limb tremor is present in one third of CIDP patients and is associated with poor balance. A high-frequency peak on posturography is associated with better balance in CIDP. Lower limb tremor and posturography assessments could serve as important biomarkers of balance in a clinical setting.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 3","pages":"415-424"},"PeriodicalIF":3.8,"publicationDate":"2023-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12574","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10184231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset EGR2基因相关的遗传性神经病在症状发作时呈现双峰年龄分布
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-12 DOI: 10.1111/jns.12572
Andoni Echaniz-Laguna, Cécile Cauquil, Jean-Baptiste Chanson, Céline Tard, Lucie Guyant-Marechal, Thierry Kuntzer, Ioana Maria Ion, Anne-Sophie Lia, Jérôme Bouligand, Vianney Poinsignon
{"title":"EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset","authors":"Andoni Echaniz-Laguna,&nbsp;Cécile Cauquil,&nbsp;Jean-Baptiste Chanson,&nbsp;Céline Tard,&nbsp;Lucie Guyant-Marechal,&nbsp;Thierry Kuntzer,&nbsp;Ioana Maria Ion,&nbsp;Anne-Sophie Lia,&nbsp;Jérôme Bouligand,&nbsp;Vianney Poinsignon","doi":"10.1111/jns.12572","DOIUrl":"10.1111/jns.12572","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mutations in the <i>Early-Growth Response 2</i> (<i>EGR2</i>) gene cause various hereditary neuropathies, including demyelinating Charcot–Marie-Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine–Sottas syndrome (DSS), and axonal CMT (CMT2).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, we identified 14 patients with heterozygous <i>EGR2</i> mutations diagnosed between 2000 and 2022.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Mean age was 44 years (15–70), 10 patients were female (71%), and mean disease duration was 28 years (1–56). Disease onset was before age 15 years in nine cases (64%), after age 35 years in four cases (28%), and one patient aged 26 years was asymptomatic (7%). All symptomatic patients had <i>pes cavus</i> and distal lower limbs weakness (100%). Distal lower limbs sensory symptoms were observed in 86% of cases, hand atrophy in 71%, and scoliosis in 21%. Nerve conduction studies showed a predominantly demyelinating sensorimotor neuropathy in all cases (100%), and five patients needed walking assistance after a mean disease duration of 50 years (47–56) (36%). Three patients were misdiagnosed as inflammatory neuropathy and treated with immunosuppressive drugs for years before diagnosis was corrected. Two patients presented with an additional neurologic disorder, including Steinert's myotonic dystrophy and spinocerebellar ataxia (14%). Eight <i>EGR2</i> gene mutations were found, including four previously undescribed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation.</h3>\u0000 \u0000 <p>Our findings demonstrate <i>EGR2</i> gene-related hereditary neuropathies are rare and slowly progressive demyelinating neuropathies with two major clinical presentations, including a childhood-onset variant and an adult-onset variant which may mimic inflammatory neuropathy. Our study also expands the genotypic spectrum of <i>EGR2</i> gene mutations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 3","pages":"359-367"},"PeriodicalIF":3.8,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10182562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CYBA allelic variants are associated with severity and recovery in Guillain–Barré syndrome CYBA等位基因变异与格林-巴-巴综合征的严重程度和恢复有关
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-08 DOI: 10.1111/jns.12571
Andreas Törnell, Nina Lagerström, Natalia Mossberg, Roberta Kiffin, Helen Farman, Jan Lycke, Oluf Andersen, Markus Axelsson, Kristoffer Hellstrand, Anna Martner
{"title":"CYBA allelic variants are associated with severity and recovery in Guillain–Barré syndrome","authors":"Andreas Törnell,&nbsp;Nina Lagerström,&nbsp;Natalia Mossberg,&nbsp;Roberta Kiffin,&nbsp;Helen Farman,&nbsp;Jan Lycke,&nbsp;Oluf Andersen,&nbsp;Markus Axelsson,&nbsp;Kristoffer Hellstrand,&nbsp;Anna Martner","doi":"10.1111/jns.12571","DOIUrl":"10.1111/jns.12571","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Guillain–Barré syndrome (GBS) is a rare, acute neuropathy characterized by ascending muscle weakness. Age, axonal GBS variants, and antecedent <i>Campylobacter jejuni</i> infection are associated with severe GBS, but the detailed mechanisms of nerve damage are only partly explored. Pro-inflammatory myeloid cells express NADPH oxidases (NOX) that generate tissue-toxic reactive oxygen species (ROS) that are implicated in neurodegenerative diseases. This study analyzed the impact of variants of the gene encoding the functional NOX subunit CYBA (p22<sup>phox</sup>) on acute severity, axonal damage, and recovery in adult GBS patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Extracted DNA from 121 patients was genotyped for allelic variation at rs1049254 and rs4673 within <i>CYBA</i> using real-time quantitative polymerase chain reaction. Serum neurofilament light chain was quantified by single molecule array. Patients were followed for severity and motor function recovery for up to 13 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>CYBA</i> genotypes linked to reduced formation of ROS, i.e. rs1049254/<b>G</b> and rs4673/<b>A</b>, were significantly associated with unassisted ventilation, shorter time to normalization of serum neurofilament light chain and shorter time to regained motor function. Residual disability at follow-up was confined to patients carrying <i>CYBA</i> alleles associated with high formation of ROS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These findings implicate NOX-derived ROS in GBS pathophysiology and <i>CYBA</i> alleles as biomarkers of severity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 3","pages":"407-414"},"PeriodicalIF":3.8,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12571","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10192841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nodes of Ranvier in health and disease 朗维耶淋巴结在健康和疾病中的作用
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-05 DOI: 10.1111/jns.12568
Yael Eshed-Eisenbach, Peter J. Brophy, Elior Peles
{"title":"Nodes of Ranvier in health and disease","authors":"Yael Eshed-Eisenbach,&nbsp;Peter J. Brophy,&nbsp;Elior Peles","doi":"10.1111/jns.12568","DOIUrl":"10.1111/jns.12568","url":null,"abstract":"<p>Action potential propagation along myelinated axons depends on the geometry of the myelin unit and the division of the underlying axon to specialized domains. The latter include the nodes of Ranvier (NOR), the paranodal junction (PNJ) flanking the nodes, and the adjacent juxtaparanodal region that is located below the compact myelin of the internode. Each of these domains contains a unique composition of axoglial adhesion molecules (CAMs) and cytoskeletal scaffolding proteins, which together direct the placement of specific ion channels at the nodal and juxtaparanodal axolemma. In the last decade it has become increasingly clear that antibodies to some of these axoglial CAMs cause immune-mediated neuropathies. In the current review we detail the molecular composition of the NOR and adjacent membrane domains, describe the function of different CAM complexes that mediate axon-glia interactions along the myelin unit, and discuss their involvement and the underlying mechanisms taking place in peripheral nerve pathologies. This growing group of pathologies represent a new type of neuropathies termed “nodopathies” or “paranodopathies” that are characterized by unique clinical and molecular features which together reflect the mechanisms underlying the molecular assembly and maintenance of this specialized membrane domain.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 S3","pages":"S3-S11"},"PeriodicalIF":3.8,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12568","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9834540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The autoimmune vulnerability of the node of Ranvier Ranvier淋巴结的自身免疫易感性
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-05 DOI: 10.1111/jns.12570
Luis Querol, Emilien Delmont, Cinta Lleixà
{"title":"The autoimmune vulnerability of the node of Ranvier","authors":"Luis Querol,&nbsp;Emilien Delmont,&nbsp;Cinta Lleixà","doi":"10.1111/jns.12570","DOIUrl":"10.1111/jns.12570","url":null,"abstract":"<p>The nodes of Ranvier (NoR) are essential domains for nerve conduction and their disruption plays a key role in the pathophysiology of immune-mediated neuropathies. Our understanding of the specialized nodal regions and the immune mechanisms that affect them is growing and has led to the update of peripheral neuropathy classification to include the autoimmune nodopathies, defined by the site of the autoimmune attack. Autoantibodies directed against molecules of the nodal region (as neurofascin-140/186, neurofascin-155, contactin-1, contactin-associated protein 1, contactin-associated protein 2, gangliosides, LGI4, or myelin-associated glycoprotein), macrophage-induced paranodal demyelination, and phenotypic changes of the nodal domains of Schwann cells have been identified as key mechanisms in the pathogenesis of the autoimmune neuropathies. This review explores the current knowledge of the autoimmune vulnerability of the NoR, including the underlying mechanisms leading to dysfunction in the diverse autoimmune disorders.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 S3","pages":"S12-S22"},"PeriodicalIF":3.8,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9834545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Autoimmune nodo-paranodopathies 10 years later: Clinical features, pathophysiology and treatment 10年后自身免疫性淋巴结副病:临床特征、病理生理和治疗
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-05 DOI: 10.1111/jns.12569
Antonino Uncini
{"title":"Autoimmune nodo-paranodopathies 10 years later: Clinical features, pathophysiology and treatment","authors":"Antonino Uncini","doi":"10.1111/jns.12569","DOIUrl":"10.1111/jns.12569","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Autoimmune neuropathies are classified, on the basis of pathophysiology, as demyelinating or axonal. The term nodo-paranodopathy, introduced in 2013 to better categorize the neuropathies with antiganglioside antibodies and later expanded to include neuropathies with antibodies to nodal and paranodal axoglial complexes, characterizes disorders in which the nodal region is critical in the pathogenesis. These neuropathies, although presenting electrophysiologic demyelinating features do not show pathologic evidence of segmental demyelination, or, although being classified as axonal, can show reversible nerve conduction failure and rapid recovery contrary with the communal concept of an axonal neuropathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this personal view is reported, with a splitting approach, an update on autoimmune nodo-paranodopathies, classified according to the domains of peripheral nerve fiber, the target antigens and the antibody class and subclass involved. The clinical features, the electrophysiologic findings, the results of the immunopathological and ultrastructural studies, the pathophysiology and treatment are also described.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and Interpretation</h3>\u0000 \u0000 <p>The nodo-paranodopathy category integrates the clinical classification of autoimmune neuropathies and expands the traditional dichotomous demyelinating and axonal classification. It helps to a better systematization pointing to the domain and target antigens of the autoimmune process, it resolves conflicting pathologic and electrophysiologic findings, reconciles the contradiction that axonal neuropathies may be rapidly reversible, avoids taxonomical confusion and possible misdiagnoses. Finally this categorization, through the identification of the specific antibody and its prevalent class and subclass, clarifies the pathophysiological mechanisms and addresses to a more targeted therapeutic approach.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 S3","pages":"S23-S35"},"PeriodicalIF":3.8,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12569","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9834543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions COVID-19大流行期间招募国际罕见病临床试验准备研究:挑战和解决方案
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-06-04 DOI: 10.1111/jns.12559
Katy Eichinger, Steffen Behrens-Spraggins, Janet E. Sowden, Davide Pareyson, Mary M. Reilly, Steven S. Scherer, Michael E. Shy, David N. Herrmann, the ACT-CMT Study Group
{"title":"Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions","authors":"Katy Eichinger,&nbsp;Steffen Behrens-Spraggins,&nbsp;Janet E. Sowden,&nbsp;Davide Pareyson,&nbsp;Mary M. Reilly,&nbsp;Steven S. Scherer,&nbsp;Michael E. Shy,&nbsp;David N. Herrmann,&nbsp;the ACT-CMT Study Group","doi":"10.1111/jns.12559","DOIUrl":"10.1111/jns.12559","url":null,"abstract":"The Accelerate Clinical Trials in","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 3","pages":"528-529"},"PeriodicalIF":3.8,"publicationDate":"2023-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10175111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toxic medications in Charcot–Marie–Tooth patients: A systematic review Charcot-Marie-Tooth患者的毒性药物:系统回顾
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-05-30 DOI: 10.1111/jns.12566
Guido Cavaletti, Katherine Forsey, Paola Alberti
{"title":"Toxic medications in Charcot–Marie–Tooth patients: A systematic review","authors":"Guido Cavaletti,&nbsp;Katherine Forsey,&nbsp;Paola Alberti","doi":"10.1111/jns.12566","DOIUrl":"10.1111/jns.12566","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Several widely used medications, with a relevant efficacy profile, are toxic to the peripheral nervous system and an even larger number of agents are suspected to be neurotoxic. There are concerns about the use of these drugs in patients with Charcot–Marie–Tooth disease (CMT), a hereditary motor and sensory neuropathy. This review provides evidence-based updated recommendations on this clinically relevant topic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic review of the available studies/reports written in English was performed from July to September 2022 including in the search string all reported putative neurotoxic drugs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results of our systematic review provide evidence-based support for the statement that use of vincristine, and possibly paclitaxel, can occasionally induce an atypical, and more severe, course of drug-related peripheral neurotoxicity in CMT patients. It is therefore reasonable to recommend caution in the use of these compounds in CMT patients. However, no convincing evidence for a similar recommendation could be found for all other drugs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>It is important that patients with CMT are not denied effective treatments that may prolong life expectancy for cancer or improve their health status if affected by non-oncological diseases. Accurate monitoring of peripheral nerve function in CMT patients treated with any neurotoxic agent remains mandatory to detect the earliest signs of neuropathy worsening and atypical clinical courses. Neurologists monitoring CMT patients as part of their normal care package or for natural history studies should keep detailed records of exposures to neurotoxic medications and support reporting of accelerated neuropathy progression if observed.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 3","pages":"295-307"},"PeriodicalIF":3.8,"publicationDate":"2023-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12566","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10240436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1 携带HSPB1 p.Pro39Leu变异的迟发性远端遗传性运动神经病家族的临床特征
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-05-30 DOI: 10.1111/jns.12567
Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
{"title":"Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1","authors":"Hiroya Naruse,&nbsp;So Okubo,&nbsp;Atsushi Sudo,&nbsp;Jun Mitsui,&nbsp;Takashi Mikata,&nbsp;Hiroyuki Ishiura,&nbsp;Shinichi Morishita,&nbsp;Shoji Tsuji,&nbsp;Tatsushi Toda","doi":"10.1111/jns.12567","DOIUrl":"10.1111/jns.12567","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Pathogenic variants of <i>HSPB1</i>, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot–Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu variant of <i>HSPB1</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Whole-exome sequence analysis identified a heterozygous pathogenic variant (Pro39Leu) of <i>HSPB1</i> in the proband. The presence of the <i>HSPB1</i> Pro39Leu variant in two affected individuals was confirmed using direct nucleotide sequence analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both patients exhibited distal muscle weakness with lower extremity predominance and no obvious sensory deficits, leading to a clinical diagnosis of late-onset dHMN. Nerve conduction studies (NCSs) revealed a subclinical complication of sensory disturbance in one of the patients. The clinical and electrophysiological findings of patients with the <i>HSPB1</i> Pro39Leu variant in this study and previous reports are summarized.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study suggests that the clinical spectrum of patients carrying <i>HSPB1</i> Pro39Leu variants, especially the disease onset, might be broader than expected, and <i>HSPB1</i> variants should be considered in patients diagnosed with late-onset dHMN. Furthermore, patients with dHMN may have concomitant sensory deficits that should be evaluated using NCSs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"28 3","pages":"518-521"},"PeriodicalIF":3.8,"publicationDate":"2023-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12567","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10537201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response Caspr1抗体自身免疫性副病伴严重四全:抗体滴度监测治疗反应的潜在相关性
IF 3.8 3区 医学
Journal of the Peripheral Nervous System Pub Date : 2023-05-29 DOI: 10.1111/jns.12565
Lorenzo Bresciani, Alessandro Salvalaggio, Elisa Vegezzi, Andrea Visentin, Andrea Fortuna, Mariagiulia Anglani, Mario Cacciavillani, Stefano Masciocchi, Silvia Scaranzin, Miryam Carecchio, Andrea Martinuzzi, Matteo Gastaldi, Chiara Briani
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