Journal of the Peripheral Nervous System最新文献

{"title":"Persistent Sciatic Artery as a Rare Cause of Sciatic Neuropathy: A Case Report","authors":"Octavian Vatavu,&nbsp;Sara Ciletti,&nbsp;Niccolò Innocenti,&nbsp;Vittoria Maria Luisa Cojazzi,&nbsp;Grazia Devigili,&nbsp;Marco Moscatelli,&nbsp;Vittoria Nazzi","doi":"10.1111/jns.70102","DOIUrl":"10.1111/jns.70102","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Persistent Sciatic Artery (PSA) is a rare congenital vascular anomaly, affecting 0.05% of the population. It arises from the failure of regression of the embryonic sciatic artery, which normally recedes as the superficial femoral artery (SFA) becomes dominant in lower limb perfusion. In cases of persistence, the sciatic artery remains as a continuation of the internal iliac artery. PSA is classified based on its persistence and anatomical relationship with the SFA and is associated with complications such as limb ischemia, aneurysmal degeneration, and thromboembolism, which may clinically manifest as gluteal pain, claudication, or acute ischemia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We describe the case of a 50-year-old woman with a longstanding history of left-sided sciatica and paresthesia, refractory to medical therapy. Neurological examination revealed a positive Tinel's sign along the course of the sciatic nerve, and imaging studies confirmed a Pillet-Gauffre type 1 PSA, in close anatomical contiguity with the nerve. Angio-CT excluded associated aneurysmal changes. In the absence of motor involvement, a conservative management strategy was adopted, with referral for vascular surgical evaluation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Sciatic nerve compression secondary to PSA is exceedingly rare, with most documented cases attributed to aneurysmal dilation exerting mass effect. Electrophysiological features of PSA-related sciatic neuropathy are unreported. This case emphasizes the possibility of including PSA within the differential diagnosis of sciatic pain, particularly when conventional aetiologies have been excluded. Recognition of this vascular anomaly is essential for accurate diagnosis and appropriate management, as surgical intervention does not uniformly result in symptoms resolution.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998453","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":"Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil","authors":"Gustavo Maximiano-Alves,&nbsp;Carolina Lavigne-Moreira,&nbsp;Marcus Vinicius Simões,&nbsp;Adilson Junior Pinto Galvão,&nbsp;Flavio Henrique Valicelli,&nbsp;Fernando Saraiva Coneglian,&nbsp;Elisa Vegezzi,&nbsp;Pedro Manoel Marques Garibaldi,&nbsp;Pedro José Tomaselli,&nbsp;Andrea Cortese,&nbsp;Wilson Marques Jr","doi":"10.1111/jns.70097","DOIUrl":"10.1111/jns.70097","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and has therapeutic implications given the availability of disease-modifying treatments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study characterizes the genetic landscape and clinical onset spectrum of ATTRv in an admixed Brazilian cohort of 175 patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seven <i>TTR</i> pathogenic variants (p.Val50Met, p.Val142Ile, p.Ile127Val, p.Ile88Leu, p.Ala39Asp, p.Phe84Leu, p.Tyr98Phe) were identified. The most common was p.Val50Met (58.8%), followed by p.Val142Ile (29.7%) and p.Ile127Val (7.4%). Notably, 44% of V122I had a neurological onset. Close clinical monitoring of presymptomatic carriers reduced age at diagnosis by 10.5 years. The median AOO was 50 years, with V30M patients presenting earlier (38.5 years) than V122I (p.Val142Ile) (60y) and I107V (p.Ile127Val) (60 years). Familial cases showed a 20.5-year earlier AOO than sporadic cases. In Brazil, late-onset (&gt; 50 years) V30M is more common than previously reported (37.5%); ethnicity can influence AOO within the same variant, and for the first time, we show a distinct geographic pattern: early-onset V30M is more frequent in São Paulo/South, whereas late-onset V30M predominates in the central region.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study emphasizes the heterogeneity of ATTRv presentation in admixed populations and underscores the need for expanded screening and multicenter studies to refine genotype–phenotypic correlations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12777902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145911664","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":"Evaluation of Nicotinamide Riboside in Prevention of Small Nerve Fiber Axon Degeneration and Promotion of Nerve Regeneration","authors":"Simone Thomas,&nbsp;Remi Ben-Davies,&nbsp;Aysel Cetinkaya-Fisgin,&nbsp;Xindan Hu,&nbsp;Xiaoling Li,&nbsp;Sarah Stewart,&nbsp;Baohan Pan,&nbsp;Jeffery L. Twiss,&nbsp;Rajiv R. Ratan,&nbsp;Dianna Willis,&nbsp;Michael Polydefkis,&nbsp;Ahmet Höke","doi":"10.1111/jns.70101","DOIUrl":"10.1111/jns.70101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Recent preclinical studies have shown that nicotinamide adenine dinucleotide (NAD⁺) plays a critical role in molecular mechanisms of axon degeneration, and reductions in NAD⁺ levels are associated with axonal degeneration. Nicotinamide riboside (NR) is a safe and widely available pyridine-nucleoside form of vitamin B3 and is an NAD⁺ precursor.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To investigate if oral supplementation of synthetic NR can act as a therapeutic agent to prevent degeneration of small somatic sensory axons innervating the skin or promote regeneration of these same fibers in humans, we utilized a validated experimental model of cutaneous nerve degeneration and regeneration and conducted a placebo-controlled, double-blinded Phase 2 study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>NR supplementation did not result in elevation of plasma NAD⁺ levels but resulted in a small increase in NAD⁺ in the skin samples. NR supplementation did not prevent capsaicin-induced degeneration of the epidermal sensory nerve fibers, and there was no difference in the amount of epidermal reinnervation at the 90-day visit. Although there was a small but statistically significant increase in the number of epidermal sensory nerve fibers at the 60-day visit, these results are preliminary and will need to be validated in larger studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>At present oral NR supplementation, at the doses used in this study, cannot be recommended to prevent neuropathy or to improve nerve regeneration.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145916973","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":"Utility of the “Modified Erasmus GBS Respiratory Insufficiency Score” in Axonal and Demyelinating Guillain–Barré Syndrome","authors":"Yukari Sekiguchi,&nbsp;Sonoko Misawa,&nbsp;Marie Morooka,&nbsp;Tomoki Suichi,&nbsp;Yuki Shiko,&nbsp;Kohei Takahashi,&nbsp;Satoshi Kuwabara","doi":"10.1111/jns.70096","DOIUrl":"10.1111/jns.70096","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The modified Erasmus GBS Respiratory Insufficiency Score (mEGRIS) has been proposed to be a useful tool for predicting the risk of mechanical ventilation (MV) in Guillain–Barré syndrome (GBS), whereas most of the patients included in previous studies had classical demyelinating GBS. This study validated the utility of the mEGRIS in axonal, as well as demyelinating GBS, defined by electrophysiologic criteria in Japan.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 214 consecutive patients diagnosed with GBS at our institution within 28 days from disease onset between 1998 and 2023 were reviewed and 200 patients with adequate data were analyzed. Acute motor axonal neuropathy (AMAN) and acute inflammatory demyelinating polyneuropathy (AIDP) were diagnosed by sequential nerve conduction studies and mEGRIS was applied to each group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 200 GBS patients were classified as AMAN (<i>n</i> = 73 [37%]), AIDP (<i>n</i> = 72 [36%]), or unclassified (<i>n</i> = 55 [28%]) and 27 (14%) patients required MV (18% of AMAN, 15% of AIDP). Patients with MV had a significantly higher mEGRIS than those without MV (17 [median range: 5–29] vs. 6 [0–22]). Approximately 81% of the patients in the moderate- or high-risk group (mEGRIS ≧ 18) required MV. Area under the curves (AUCs) of the mEGRIS prediction formulas was 0.89 (95% CI, 0.82–0.96) for total GBS group and 0.92 (95% CI, 0.85–1.00) for the AMAN group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The mEGRIS is useful for predicting MV risk in patients with AMAN, as well as AIDP. Close monitoring was required for patients who were classified as moderate or high-risk by mEGRIS, irrespective of GBS subtypes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145906216","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":"Patient Outcomes Among Medicare Beneficiaries With Guillain–Barré Syndrome","authors":"Brad Wright,&nbsp;Samantha R. Eiffert,&nbsp;Abagail Cirincione,&nbsp;Joshua Nardin,&nbsp;James F. Howard Jr,&nbsp;Rebecca E. Traub","doi":"10.1111/jns.70094","DOIUrl":"10.1111/jns.70094","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Understanding of population-level outcomes for patients with Guillain–Barré syndrome (GBS) remains limited. We identified which GBS patients are most likely to experience worse outcomes using the largest and most current GBS cohort in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective cohort study used 2005–2020 fee-for-service Medicare claims to identify individuals newly diagnosed with GBS (<i>N</i> = 16 280). We used three person-level modified Poisson regressions to estimate hospital and intensive care unit (ICU) lengths of stay and GBS episode length as a function of sociodemographic characteristics, comorbid conditions, and year of diagnosis. We also documented hospital-acquired pressure ulcers and deep vein thromboses as quality indicators.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median hospital length of stay was 9 days [IQR: 6–18 days] and median GBS episode length was 26 days [IQR: 10–60 days]. Approximately 43% of patients spent time in the ICU, with most of those stays (57%) lasting ≤ 1 week. On average, stays and episodes were significantly longer for men, those with a disability, and those diagnosed with an impulse control disorder, other nervous system diagnoses, or certain cancers, but significantly shorter for Black individuals and those dually eligible for Medicare and Medicaid. Most patients avoided developing pressure ulcers (96%) or deep vein thromboses (91%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The GBS disease course varies significantly among Medicare enrollees. We identified some factors associated with worse GBS outcomes and others suggesting structural barriers to care. Our findings can improve care delivery by helping clinicians identify high-risk patients, facilitate early interventions, and reduce morbidity and mortality.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12748927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145856773","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":"Prospective Evaluation of Machine-Assisted Electrophysiologic and Online Clinical Diagnostic Support Tools in Chronic Inflammatory Demyelinating Polyradiculoneuropathy","authors":"Michael P. Skolka,&nbsp;Grace Swart,&nbsp;Shahar Shelly,&nbsp;Thapat Wannarong,&nbsp;Stefan Stålberg,&nbsp;Benjamin Stålberg,&nbsp;Abe Gardner,&nbsp;Jacob Price,&nbsp;Ruple S. Laughlin,&nbsp;Divyanshu Dubey,&nbsp;John R. Mills,&nbsp;Jay Mandrekar,&nbsp;Christopher J. Klein","doi":"10.1111/jns.70084","DOIUrl":"10.1111/jns.70084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a common, treatable, autoimmune, neuropathy frequently misdiagnosed. The complex electrodiagnostic (EDX) criteria required for diagnosis are challenging to apply in routine practice. This study evaluates the effectiveness of a machine-assisted EDX tool in real-time identification of demyelinating nerve conduction studies (NCS) stipulated by 2021-EAN/PNS CIDP criteria in conjunction with an online CIDP clinical probability calculator.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We prospectively evaluated 100 consecutive patients with referral or EDX diagnosis of polyradiculoneuropathy beginning January 1, 2024. Fifty patients were included, each from Jacksonville and Rochester Mayo Clinics. Routine electromyography (EMG) reports were compared to a machine-assisted support tool applying 2021-EAN/PNS CIDP EDX criteria to NCS assessing demyelination. The EDX-assistant performance was compared to the final clinical diagnosis and our previously reported online CIDP clinical prediction tool (https://news.mayocliniclabs.com/cidp-calculator/).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 100 patients (60% male; median age 64), 30 had a final clinical CIDP diagnosis with 29 having intravenous immunoglobulin follow-up; 27 (93%) improved and 2 (7%) stabilized. Routine EMGs reported demyelination in 14 of 30 (47%), with 46% sensitivity and 79% specificity. The EDX-assistant identified CIDP demyelination in 28 of 30 (93%), with 93% sensitivity and 57% specificity. The clinical calculator detected CIDP in 30 of 30 (100%) with 86% specificity, increasing to 94% after excluding false positives lacking demyelinating features on the EDX tool.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>A real-time machine-assisted EDX support tool, used with a clinical web-based calculator, streamlines CIDP assessment by improving standardized identification of 2021-EAN/PNS CIDP demyelinating NCS criteria and aiding clinical decisions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781638","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":"Longitudinal Assessment of Quality of Life and Functionality by CAP-PRI in Patients With Active Chronic Inflammatory Demyelinating Polyradiculoneuropathy","authors":"Ivo Bozovic,&nbsp;Kelly Gwathmey,&nbsp;Stojan Peric,&nbsp;Aleksandra Kacar,&nbsp;Jelena Lazovic,&nbsp;Reza Sadjadi,&nbsp;Ivana Basta","doi":"10.1111/jns.70091","DOIUrl":"10.1111/jns.70091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>In most studies to date, generic health-related quality of life (QoL) questionnaires have been used in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Unfortunately, these tools are often considered insufficient for capturing the unique characteristics of this specific, rare disease. The Chronic Acquired Polyneuropathy Patient-Reported Index (CAP-PRI) is a measure which specifically targets patients with chronic immune-mediated polyneuropathies. This is the first study which longitudinally assessed QoL and functionality by CAP-PRI in patients with active CIDP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>CAP-PRI testing was conducted at three time points (baseline, year one and year four) in 57 CIDP patients with active disease at baseline. In addition, the Medical Research Council Sum Score (MRC-SS), Inflammatory Neuropathy Cause and Treatment (INCAT) disability score, Inflammatory Rasch-built Overall Disability Scale (I-RODS), and the generic QOL instrument, the Short Form 36 (SF-36) were used in all tested patients at all three time points.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At the baseline and two other time points, CAP-PRI showed strong correlations with impairment (MRC-SS), functionality (INCAT, I-RODS), and the SF-36. At year one and year four, CAP-PRI was able to make a differentiation between patients whose impairment/disability improved compared to patients who deteriorated, and it performed better than SF-36. One- and four-year changes in CAP-PRI correlated with a change in MRC-SS, INCAT, and I-RODS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>CAP-PRI is a highly reliable and sensitive measure for assessing QoL in patients with active CIDP. Its consistent performance over time supports its utility in monitoring CIDP patients with active disease in clinical and research settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774840","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":"Impact of High-Dose Tafamidis on Hereditary ATTR (ATTRv) Amyloidosis With Central Nervous System Involvement: Two Case Reports With Clinical, Radiological and Cerebrospinal Fluid Follow Up","authors":"Victor Jia Wei Zhang,&nbsp;Laura Mantoan Ritter,&nbsp;Chandrashekar Hoskote,&nbsp;Ata Siddiqui,&nbsp;Michael Lunn,&nbsp;Julian Gillmore,&nbsp;Mary M. Reilly","doi":"10.1111/jns.70088","DOIUrl":"https://doi.org/10.1111/jns.70088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Treatment options for central nervous system (CNS) manifestations of ATTRv amyloidosis remain limited, with no disease-modifying therapy. However, previous case series have indicated that tafamidis (a transthyretin stabiliser) crosses the blood–brain barrier in small quantities. We present long-term follow-up data on two patients with CNS manifestations of ATTRv who received high-dose (61 mg) oral tafamidis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patient one is a 48-year-old man with p.Gly73Ala ATTRv peripheral neuropathy and commenced on gene-silencing therapy. He was subsequently diagnosed with early ATTRv CNS involvement, prompting the addition of tafamidis since age 45. Patient two is a 27-year-old woman with p.Gly67Arg ATTRv with significant CNS involvement resulting in epilepsy and encephalopathy. Since age 21, she has been on gene-silencing therapy and tafamidis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Following 3 years of therapy, patient one has remained clinically asymptomatic. However, brain magnetic resonance imaging (MRI) and cerebrospinal fluid assessment have demonstrated progression of his CNS ATTRv. Followed 6 years of therapy, patient two has continued to have seizures requiring escalation of anti-seizure medications and MRI brain has shown progression of CNS disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In our two patients, progression of CNS disease occurred whilst on high-dose tafamidis, highlighting the importance of further studies into the monitoring and treatment of CNS manifestations of ATTRv.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145739641","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":"Blood 1-Deoxysphingolipid Levels Are Associated With Epidermal Denervation in Small Fiber Neuropathy","authors":"Luisa Kreß,&nbsp;Caren Meyer zu Altenschildesche,&nbsp;Nadine Egenolf,&nbsp;Claudia Sommer,&nbsp;Thorsten Hornemann,&nbsp;Nurcan Üçeyler","doi":"10.1111/jns.70089","DOIUrl":"10.1111/jns.70089","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Dysfunctional sphingolipid metabolism leads to nerve fiber degeneration, particularly of small caliber Aδ and C fibers, in hereditary sensory and autonomic neuropathies. We aimed to investigate the association of blood 1-deoxysphingolipid (1-deoxySL) profiles and skin denervation in idiopathic small fiber neuropathy (SFN).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Seventy-five patients with idiopathic SFN were recruited prospectively. Patients underwent a skin punch biopsy at the lower leg and upper thigh for intraepidermal nerve fiber density (IENFD) quantification. IENFD was correlated with individual blood 1-deoxySL levels, amino acid profiles, and determinants of glucose and lipoprotein metabolism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median distal IENFD in SFN patients was 5.3 fibers/mm. In 38/75 (51%) patients, IENFD was ≤ 5.3 fibers/mm (i.e., “low fiber density,” LFD), while in 37/75 (49%) patients, IENFD was &gt; 5.3 fibers/mm (i.e., “high fiber density,” HFD). 1-deoxySL was higher in patients with LFD compared to HFD (<i>p</i> &lt; 0.05). Fasting plasma glucose was also higher in patients with LFD than in patients with HFD (<i>p</i> &lt; 0.01), while HDL was lower in patients with LFD compared to HFD (<i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>1-deoxySL, lipoprotein metabolism, and glucose levels are associated with the extent of epidermal denervation in SFN, supporting the role of this metabolic axis in small nerve fiber pathology.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70089","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145723998","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":"Nonsystemic Vasculitic Neuropathy—A Brazilian Case Series","authors":"Victor Evangelista Rodrigues Pereira,&nbsp;Roberto Pereira Santos,&nbsp;Marcos Raimundo Gomes de Freitas,&nbsp;Manuella Lima Gomes Ochtrop,&nbsp;Ana Caroline Siquara-De-Souza,&nbsp;Salim L. Balassiano,&nbsp;Marcia Rodrigues Jardim","doi":"10.1111/jns.70086","DOIUrl":"10.1111/jns.70086","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Vasculitides are a heterogeneous group of immune-mediated inflammatory disorders that compromise the vascuar wall, leading to luminal narrowing and tissue ischemia. When inflammation selectively affects the vasa nervorum without systemic involvement, it results in nonsystemic vasculitic neuropathy (NSVN), an underrecognized condition. NSVN presents diagnostic challenges due to its variable clinical manifestations and reliance on nerve biopsy for definitive diagnosis. This study aimed to characterize the clinical, neurophysiological, and histopathological features of NSVN in a Brazilian cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a cross-sectional, ambispective cohort study combining retrospective chart review and prospective patient assessments. Inclusion required histopathological confirmation of isolated peripheral nerve vasculitis; cases with systemic or secondary vasculitis were excluded. Data collection included clinical evaluation, neurophysiology, and nerve biopsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 14 patients were included (9 female, 64%; mean age: 61). Most (<i>n</i> = 8, 57%) had subacute onset of painful sensory or sensorimotor deficits. Multiple mononeuropathies predominated (<i>n</i> = 11, 78%), but a subset exhibited chronic progression (<i>n</i> = 5, 35%) and axonal polyneuropathy (<i>n</i> = 3, 21%). Electrophysiological studies revealed a consistent axonal pattern. Biopsies confirmed possible vasculitis in six (43%), and probable vasculitis in six (42%), with only two (14%) fulfilling criteria for definite vasculitis. Serologies were nonspecific. Treatment involved corticosteroid pulse therapy, with immunosuppression in refractory cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These findings highlight that NSVN often presents with painful sensorimotor symptoms and may clinically mimic progressive axonal polyneuropathies. Given its potential for significant morbidity if left untreated, early recognition and consideration of nerve biopsy remain critical. The diagnostic complexity and variability in presentation suggest that NSVN may be underrecognized. We hope this cohort contributes to a broader understanding of its clinical spectrum and informs future diagnostic strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708469","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}