Journal of the Peripheral Nervous System最新文献

{"title":"Corneal confocal microscopy detects early nerve regeneration after pharmacological and surgical interventions: Systematic review and meta-analysis","authors":"Hoda Gad,&nbsp;Einas Elgassim,&nbsp;Ahamed Lebbe,&nbsp;Ross S. MacDonald,&nbsp;Areej Baraka,&nbsp;Ioannis N. Petropoulos,&nbsp;Georgios Ponirakis,&nbsp;Nada O. Ibrahim,&nbsp;Rayaz A. Malik","doi":"10.1111/jns.12641","DOIUrl":"10.1111/jns.12641","url":null,"abstract":"<p>Corneal confocal microscopy (CCM) is an ophthalmic imaging technique that enables the identification of corneal nerve fibre degeneration and regeneration. To undertake a systematic review and meta-analysis of studies utilizing CCM to assess for corneal nerve regeneration after pharmacological and surgical interventions in patients with peripheral neuropathy. Databases (EMBASE [Ovid], PubMed, CENTRAL and Web of Science) were searched to summarize the evidence from randomized and non-randomized studies using CCM to detect corneal nerve regeneration after pharmacological and surgical interventions. Data synthesis was undertaken using RevMan web. Eighteen studies including 958 patients were included. CCM identified an early (1–8 months) and longer term (1–5 years) increase in corneal nerve measures in patients with peripheral neuropathy after pharmacological and surgical interventions. This meta-analysis confirms the utility of CCM to identify nerve regeneration following pharmacological and surgical interventions. It could be utilized to show a benefit in clinical trials of disease modifying therapies for peripheral neuropathy.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"173-184"},"PeriodicalIF":3.9,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12641","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419641","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}

{"title":"Monoclonal gammopathy-associated peripheral neuropathies: Uncovering pearls and challenges","authors":"Trajano Aguiar Pires Gonçalves,&nbsp;Camila Derminio Donadel,&nbsp;Rodrigo Siqueira Soares Frezatti,&nbsp;Pedro Manoel Marques Garibaldi,&nbsp;Rodrigo T. Calado,&nbsp;Wilson Marques Junior,&nbsp;Pedro José Tomaselli","doi":"10.1111/jns.12638","DOIUrl":"10.1111/jns.12638","url":null,"abstract":"<p>Monoclonal gammopathy-related peripheral neuropathies encompass a spectrum of clinical presentations in which the monoclonal protein directly damages the tissues, including the peripheral nervous system. Given the prevalence of both peripheral neuropathy and monoclonal gammopathy in the general population, these conditions may overlap in clinical practice, posing a challenge for clinicians in determining causality. Therefore, a comprehensive understanding of primary clinical syndromes and their neurophysiological patterns is of great importance for accurate differential diagnoses and effective treatment strategies. In this article, we examine the main forms of monoclonal gammopathies that affect the peripheral nerve. We explore the clinical and electrophysiological aspects and their correlation with each syndrome's corresponding monoclonal protein type. This knowledge is essential for healthcare professionals to diagnose better and manage patients presenting with monoclonal gammopathy-related peripheral nervous system involvement.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"161-172"},"PeriodicalIF":3.9,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141317650","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}

{"title":"The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family","authors":"Alessia Mammi,&nbsp;Alessandro Geroldi,&nbsp;Serena Patrone,&nbsp;Fabio Gotta,&nbsp;Paola Origone,&nbsp;Andrea Gaudio,&nbsp;Andrea La Barbera,&nbsp;Francesca Sanguineri,&nbsp;Clarissa Ponti,&nbsp;Michele Iacomino,&nbsp;Monica Traverso,&nbsp;Edoardo Ferlazzo,&nbsp;Angelo Schenone,&nbsp;Angelo Pascarella,&nbsp;Oreste Marsico,&nbsp;Paola Mandich,&nbsp;Emilia Bellone","doi":"10.1111/jns.12636","DOIUrl":"10.1111/jns.12636","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Biallelic mutations in the <i>PTRH2</i> gene have been associated with infantile multisystem neurological, endocrine, and pancreatic disease (IMNEPD), a rare autosomal recessive disorder of variable expressivity characterized by global developmental delay, intellectual disability or borderline IQ level, sensorineural hearing loss, ataxia, and pancreatic insufficiency. Various additional features may be included, such as peripheral neuropathy, facial dysmorphism, hypothyroidism, hepatic fibrosis, postnatal microcephaly, cerebellar atrophy, and epilepsy. Here, we report the first Italian family presenting only predominant neurological features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Extensive neurological and neurophysiological evaluations have been conducted on the two affected brothers and their healthy mother since 1996. The diagnosis of peripheral neuropathy of probable hereditary origin was confirmed through a sural nerve biopsy. Exome sequencing was performed after the analysis of major neuropathy-associated genes yielded negative results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Whole-exome sequencing analysis identified the homozygous substitution c.256C&gt;T (p.Gln86Ter) in the <i>PTRH2</i> gene in the two siblings. According to American College of Medical Genetics and Genomics (ACMG) guidelines, the variant has been classified as pathogenic.</p>\u0000 \u0000 <p>At 48 years old, the proband's reevaluation confirmed a demyelinating sensorimotor polyneuropathy with bilateral sensorineural hearing loss that had been noted since he was 13. Additionally, drug-resistant epileptic seizures occurred when he was 32 years old. No hepatic or endocrinological signs developed. The younger affected brother, 47 years old, has an overlapping clinical presentation without epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to <i>PTRH2</i> variants. We thereby hope to better define IMNEPD and facilitate the identification and diagnosis of this novel disease entity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"279-285"},"PeriodicalIF":3.9,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141317652","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}

{"title":"Reply to the Letter to the Editor “Do corticosteroids aggravate pure motor chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)?” by Kokubun N. et al.","authors":"P. Y. K. van den Bergh,&nbsp;P. A. van Doorn,&nbsp;R. D. M. Hadden,&nbsp;the EAN/PNS CIDP guideline – second revision Task Force members","doi":"10.1111/jns.12640","DOIUrl":"10.1111/jns.12640","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"288-289"},"PeriodicalIF":3.9,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141317651","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}

{"title":"A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing","authors":"Bianca R. Grosz,&nbsp;Jevin M. Parmar,&nbsp;Melina Ellis,&nbsp;Samantha Bryen,&nbsp;Cas Simons,&nbsp;Andre L. M. Reis,&nbsp;Igor Stevanovski,&nbsp;Ira W. Deveson,&nbsp;Garth Nicholson,&nbsp;Nigel Laing,&nbsp;Mathew Wallis,&nbsp;Gianina Ravenscroft,&nbsp;Kishore R. Kumar,&nbsp;Steve Vucic,&nbsp;Marina L. Kennerson","doi":"10.1111/jns.12637","DOIUrl":"10.1111/jns.12637","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Loss-of-function variants in <i>MME</i> (membrane metalloendopeptidase) are a known cause of recessive Charcot–Marie–Tooth Neuropathy (CMT). A deep intronic variant, <i>MME</i> c.1188+428A&gt;G (NM_000902.5), was identified through whole genome sequencing (WGS) of two Australian families with recessive inheritance of axonal CMT using the seqr platform. <i>MME</i> c.1188+428A&gt;G was detected in a homozygous state in Family 1, and in a compound heterozygous state with a known pathogenic <i>MME</i> variant (c.467del; p.Pro156Leufs*14) in Family 2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>We aimed to determine the pathogenicity of the <i>MME</i> c.1188+428A&gt;G variant through segregation and splicing analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The splicing impact of the deep intronic <i>MME</i> variant c.1188+428A&gt;G was assessed using an in vitro exon-trapping assay.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The exon-trapping assay demonstrated that the <i>MME</i> c.1188+428A&gt;G variant created a novel splice donor site resulting in the inclusion of an 83 bp pseudoexon between <i>MME</i> exons 12 and 13. The incorporation of the pseudoexon into <i>MME</i> transcript is predicted to lead to a coding frameshift and premature termination codon (PTC) in <i>MME</i> exon 14 (p.Ala397ProfsTer47). This PTC is likely to result in nonsense mediated decay (NMD) of <i>MME</i> transcript leading to a pathogenic loss-of-function.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>To our knowledge, this is the first report of a pathogenic deep intronic <i>MME</i> variant causing CMT. This is of significance as deep intronic variants are missed using whole exome sequencing screening methods. Individuals with CMT should be reassessed for deep intronic variants, with splicing impacts being considered in relation to the potential pathogenicity of variants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"262-274"},"PeriodicalIF":3.9,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12637","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300897","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}

{"title":"Do corticosteroids aggravate pure motor chronic inflammatory demyelinating polyneuropathy?","authors":"Norito Kokubun,&nbsp;Kei Funakoshi,&nbsp;Nobuhiro Yuki","doi":"10.1111/jns.12639","DOIUrl":"10.1111/jns.12639","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"286-287"},"PeriodicalIF":3.9,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296337","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}

{"title":"Abstract","authors":"","doi":"10.1111/jns.12627","DOIUrl":"10.1111/jns.12627","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 S2","pages":"S3-S51"},"PeriodicalIF":3.8,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12627","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141159364","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}

{"title":"Longitudinal follow-up and prognostic factors in nitrous oxide-induced neuropathy","authors":"Etienne Fortanier,&nbsp;Emilien Delmont,&nbsp;Giovanni Corazza,&nbsp;Ludivine Kouton,&nbsp;Joelle Micallef,&nbsp;Shahram Attarian","doi":"10.1111/jns.12634","DOIUrl":"10.1111/jns.12634","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aim</h3>\u0000 \u0000 <p>Recreational use of nitrous oxide (N₂O) has been associated with the development of severe nitrous oxide-induced neuropathy (N₂On). Follow-up of these patients poses challenges, and their clinical progression remains largely unknown. The identification of prognostic factors is made difficult by the lack of standardized longitudinal assessments in most studies. The objective was to document the course of neuropathy through systematic follow-up assessments in N₂On patients to identify prognostic factors for persistent disability after 6 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We gathered demographic, clinical, biological, and electrophysiological data from N₂On patients hospitalized in the Referral center in Marseille, both at baseline and during a standardized follow-up assessment at 6 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We retrospectively included 26 N₂On patients (mean age 22.6 ± 4.4). Significant improvements were observed in all main clinical scores including Rankin, ONLS, and MRC testing (<i>p</i> &lt; .01). Electrophysiological studies (EDX) revealed a predominantly motor neuropathy with marked reduction in CMAP in the lower limbs at baseline, and no significant improvement in motor parameters (<i>p</i> = .543). Rankin score at 6 months correlated with the initial weekly N₂O consumption (<i>r</i> = .43, <i>p</i> = .03) and the CMAP sum score in the lower limbs at the first EDX (<i>r</i> = −.47, <i>p</i> = .02). Patients with and without myelitis showed similar Rankin and ONLS score after 6 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The clinical course generally improved favorably at 6 months with notable amelioration in the primary disability scores, sensory deficits, and ataxia. However, distal motor impairment associated with peripheral neuropathy persisted, with distal axonal loss emerging as the main prognostic factor for long-term disability in these young patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"252-261"},"PeriodicalIF":3.9,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076156","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}

{"title":"Genotype–phenotype correlations of AR-CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China","authors":"Lei Liu,&nbsp;Sen Zeng,&nbsp;Xiaobo Li,&nbsp;Yongzhi Xie,&nbsp;Ke Xu,&nbsp;Honglan Yang,&nbsp;Shunxiang Huang,&nbsp;Huadong Zhao,&nbsp;Ruxu Zhang","doi":"10.1111/jns.12633","DOIUrl":"10.1111/jns.12633","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>This study aimed to report nine Charcot–Marie–Tooth disease (CMT) families with six novel <i>IGHMBP2</i> mutations in our CMT2 cohort and to summarize the genetic and clinical features of all AR-CMT2S patients reported worldwide.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>General information, clinical and neurophysiological data of 275 axonal CMT families were collected. Genetic screening was performed by inherited peripheral neuropathy related genes panel or whole exome sequencing. The published papers reporting AR-CMT2S from 2014 to 2023 were searched in Pubmed and Wanfang databases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In our CMT2 cohort, we detected 17 AR-CMT2S families carrying <i>IGHMBP2</i> mutations and eight were published previously. Among these, c.743 T &gt; A (p.Val248Glu), c.884A &gt; G (p.Asp295Gly), c.1256C &gt; A (p.Ser419*), c.2598_2599delGA (p.Lys868Sfs*16), c.1694_1696delATG (p.Asp565del) and c.2509A &gt; T (p.Arg837*) were firstly reported. These patients prominently presented with early-onset typical axonal neuropathy and without respiratory dysfunction. So far, 56 AR-CMT2S patients and 57 different mutations coming from 43 families have been reported in the world. Twenty-nine of 32 missense mutations were clustered in helicase domain and ATPase region. The age at onset ranged from 0.11to 20 years (Mean ± SD: 3.43 ± 3.88 years) and the majority was infantile-onset (&lt;2 years). The initial symptoms included weakness of limbs (19, 29.7%), delayed milestones (12, 18.8%), gait disturbance (11, 17.2%), feet deformity (8, 12.5%), feet drop (8, 12.5%), etc.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>AR-CMT2S accounted for 6.2% in our CMT2 cohort. We firstly reported six novel <i>IGHMBP2</i> mutations which expanded the genotypic spectrum of AR-CMT2S. Furthermore, 17 AR-CMT2S families could provide more resources for natural history study, drug research and development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"243-251"},"PeriodicalIF":3.9,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076155","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}

{"title":"A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family","authors":"Julian Theuriet,&nbsp;Sheila Marte,&nbsp;Arnaud Isapof,&nbsp;Alix de Becdelièvre,&nbsp;Marina Konyukh,&nbsp;Stephanie M. Laureano-Figueroa,&nbsp;Philippe Latour,&nbsp;Isabelle Quadrio,&nbsp;Thierry Maisonobe,&nbsp;Anthony Antonellis,&nbsp;Tanya Stojkovic","doi":"10.1111/jns.12635","DOIUrl":"10.1111/jns.12635","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Pathogenic variants in the <i>NARS1</i> gene, which encodes for the asparaginyl-tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot–Marie–Tooth (CMT) disease has been linked to heterozygous pathogenic variants in <i>NARS1</i> in nine patients. Here, we report two brothers and their mother from a French family with distal hereditary motor neuropathy (dHMN) carrying a previously unreported <i>NARS1</i> variant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The <i>NARS1</i> variant (c.1555G&gt;C; p.(Gly519Arg)) was identified through whole-genome sequencing (WGS) performed on the family members. Clinical findings, nerve conduction studies (NCS), needle electromyography (EMG), and functional assays in yeast complementation assays are reported here.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The family members showed symptoms of dHMN, including distal weakness and osteoarticular deformities. They also exhibited brisk reflexes suggestive of upper motor neuron involvement. All patients were able to walk independently at the last follow-up. NCS and EMG confirmed pure motor neuropathy. Functional assays in yeast confirmed a loss-of-function effect of the variant on NARS1 activity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our findings expand the clinical spectrum of <i>NARS1</i>-associated neuropathies, highlighting the association of <i>NARS1</i> mutations with dHMN. The benign disease course observed in our patients suggests a slowly progressive phenotype. Further reports could contribute to a more comprehensive understanding of the spectrum of NARS1-associated neuropathies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 2","pages":"275-278"},"PeriodicalIF":3.9,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12635","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141071489","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}