Search

Objective: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune neuropathy characterized by progressive or relapsing–remitting weakness and sensory deficits. This study aims to evaluate the utility of corneal confocal microscopy (CCM) in diagnosing and monitoring CIDP. Methods: We analysed 100 CIDP patients and 31 healthy controls using CCM to measure corneal nerve fiber density (CNFD), length (CNFL), and branch density (CNBD). Standardized clinical and electroneurographic evaluation were conducted, and statistical analyses were performed to compare CCM parameters between groups and across disease stages. Results: CIDP patients and subgroups exhibited significant reduction in CNFD, CNFL, and CNBD compared to controls. This reduction was observed in late disease stages and severe overall disability sum score (ODSS), and Inflammatory Neuropathy Cause and Treatment Sensory Sum Score (ISS). CCM parameters correlated with axonal pathology in electroneurography of sensory, but not motor nerves. Despite the significant differences, the diagnostic sensitivity (41%) and specificity (77%) of CCM parameters were limited. Conclusion: While CCM effectively differentiates CIDP patients from healthy controls and was associated with disease severity, its diagnostic accuracy for routine clinical use is a posteriori. However, CCM shows promise as a non-invasive tool for monitoring sensory axonal pathology in CIDP. [ABSTRACT FROM AUTHOR]

The article discusses the case of an 18-year-old male who sustained a severe traumatic brain injury (TBI) and multiple fractures in a motor vehicle accident. Initially, he presented with a Glasgow Coma Scale of 7, left temporal subdural hematoma, bifrontal intraparenchymal hemorrhagic contusions, and fractures in the left upper extremity (LUE), requiring decompressive craniectomy, hematoma evacuation, and surgical fixation of fractures.

Obesity management through laparoscopic sleeve gastrectomy can occasionally lead to rare but severe complications, including Guillain-Barré Syndrome (GBS). This report analyzes two cases of GBS following LSG, highlighting differences in symptoms, diagnosis, and management. The first patient experienced rapid onset neurological symptoms post-surgery, confirmed as GBS through clinical and electrophysiological assessments, and responded well to intravenous immunoglobulin. The second patient showed similar symptoms but received only multivitamins and physiotherapy due to financial constraints, with a slow but progressive recovery. These cases underscore the necessity for vigilant postoperative monitoring for GBS, reflecting on potential immune dysregulation and microbiota changes as contributory factors. This awareness is crucial for improving patient outcomes and understanding the neurological impacts of bariatric surgery. [ABSTRACT FROM AUTHOR]

Guillain-Barré syndrome (GBS) is a complex autoimmune disorder characterized by acute onset of motor weakness, often following an infectious illness. The pathophysiology of GBS involves a multifaceted interplay between immune mechanisms and environmental factors, leading to demyelination or axonal degeneration. This systematic review aims to elucidate the autoimmune mechanisms underlying the various subtypes of GBS, including acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), acute motor and sensory axonal neuropathy (AMSAN), and Miller Fisher syndrome (MFS). A thorough literature search identified 71 studies published between 2010 and 2024 that provided insights into the immunopathological features, clinical implications, and future directions for research. Key findings indicate that specific autoantibodies, such as anti-GM1 and anti-GQ1b, are associated with distinct subtypes of GBS, contributing to the disease's heterogeneity. Understanding these autoimmune mechanisms is crucial for improving diagnostic accuracy, therapeutic strategies, and prognostic indicators in GBS. This review highlights significant gaps in current research, emphasizing the need for further studies to explore the genetic and environmental factors that influence GBS susceptibility and the role of vaccinations in triggering autoimmune responses. Trial registration: PROSPERO CRD42024606718. [ABSTRACT FROM AUTHOR]

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) syndrome is a paraneoplastic syndrome associated with an underlying plasma cell neoplasm. According to the current diagnostic criteria for POEMS syndrome, the presence of characteristic polyneuropathy and clonal plasma cell disorder are required for diagnosis. We report a case of a Castleman disease variant of POEMS syndrome without monoclonal protein (M protein) expression, which presented with polyneuropathy, organomegaly, endocrinopathy, skin lesions, and sclerotic bone lesions. The patient was treated with lenalidomide and dexamethasone (RD), after which her symptoms improved. The findings in this case suggest that the diagnostic criteria for POEMS syndrome might require reconsideration. [ABSTRACT FROM AUTHOR]

Background: Metabolic disorders are significant risk factors for peripheral neuropathy (PN) diseases. However, current clinical observational studies cannot fully determine the causal relationships between hypothyroidism (HT) and PN diseases. Methods: We performed univariate Mendelian randomization (MR) analyses using single nucleotide polymorphisms (SNPs) associated with hypothyroidism and two diseases clinically presented as HT (autoimmune thyroid disease and benign neoplasm of the pituitary gland and craniopharyngeal duct) as instrumental variables. We selected eight peripheral neuropathy diseases (diabetic neuropathy, nerve root/plexus disorder, carpal tunnel syndrome, polyneuropathies, sciatica with lumbago, trigeminal neuralgia, postherpetic neuralgia, small fiber neuropathy) as outcomes. Genetic data were sourced from authoritative genome-wide association study (GWAS) datasets. We primarily used the inverse variance-weighted (IVW) method and conducted a comprehensive sensitivity analysis to ensure robustness. Results: The IVW results indicated that HT was significantly associated with an increased risk of diabetic peripheral neuropathy (OR = 1.22, p = 6.49E-05). HT was also significantly linked to nerve root/plexus disorder (OR = 1.04, p = 6.43E-06) and carpal tunnel syndrome (OR = 1.04, p = 0.004), but appeared to be a potential protective factor for polyneuropathies (OR = 0.93, p = 0.0009). Additionally, autoimmune thyroid disease (AITD) was identified as a potential risk factor for carpal tunnel syndrome (OR = 13.79, p = 0.006) and a protective factor for polyneuropathies (OR = 0.0011; p = 4.44E-5). Conclusions: This study provides genetic evidence supporting potential causal links between hypothyroidism and various peripheral neuropathy diseases. [ABSTRACT FROM AUTHOR]

Background& Objective: Giant axonal neuropathy (GAN) is a serious progressive neurodegenerative disease. The aim of this study is to evaluate the frequency and phenotypic-genotypic characteristics of GAN patients, which, like many rare diseases, is disguised under the name of polyneuropathy, and to present our experience. Methods: In this retrospective observational study, 105 pediatric patients with polyneuropathy were screened. Demographic characteristics and clinical diagnoses were reviewed. The mean age of the patients was 10.9 years (2-18), 59 were boys (56%) and 46 were girls (44%). GAN patients who were genetically diagnosed by single gene analysis were clinically evaluated in detail. Results: Regarding the etiology of polyneuropathy, 43% of patients had acquired and 57% had hereditary causes. Among hereditary cases, 29% had an unknown diagnosis, and 5% were diagnosed with GAN, presenting first with gait disturbance. These patients exhibited axonal sensorimotor polyneuropathy and diverse hair types (20% straight, 20% kinky, 40% curly, 20% slightly curly). Findings included carious teeth (40%), hyperplexia (20%), and apnea (20%). Disease progression included worsening scoliosis and limb deformities (pes cavus), with pathological cranial MRI findings. Literature identified 5 GAN patients with a homozygous deletion of GAN gene exon 2-5, classified as likely pathogenic (Class 4). Conclusion: This study highlights the frequency of GAN among undiagnosed polyneuropathies in childhood. Although the phenotype-genotype correlation for giant axonal neuropathy has not yet been determined, we hope that further studies in the field of molecular biology will increase the chances of a better quality of life. [ABSTRACT FROM AUTHOR]

Immune checkpoint inhibitors (ICIs) are highly effective in treating cancer and are increasingly used. Thus, awareness of various complications in the form of immunity-related adverse events is increasing. Transverse myelitis following ICIs is a rare but severe neurological adverse event, and information about this entity is minimal. ICI-associated transverse myelitis should be considered a rapid and comprehensive differential diagnosis after evaluating infective, metabolic, or other inflammatory-autoimmune pathologies. After diagnosis, early immunomodulation is required through intravenous high-dose methylprednisolone, IVIg, or plasmapheresis. It should be kept in mind that different etiologies may coexist or a superimposed condition may cause each other, and concurrent treatment should not be delayed. Further studies are needed to investigate the neurological manifestations that may develop in association with these therapies further and help establish guidelines for their management. In this case report, a rare case of ICI-associated transverse myelitis in a 62-year-old male patient was presented. [ABSTRACT FROM AUTHOR]

The prevalence of chronic polyneuropathy will increase due to the aging population, and therefore, it becomes ever so important to optimize the diagnostic process. However, it is uncertain which blood tests are required and when nerve conduction studies (NCS) should be done in the workup of chronic polyneuropathy. We aimed to investigate the methodology used to develop national polyneuropathy guidelines and to provide an overview and strength of evidence of the recommendations. We searched PubMed and websites of national neurological associations as listed on the website of the World Federation of Neurology to identify national guidelines pertaining to the workup of chronic polyneuropathy by neurologists in an outpatient clinic setting. We identified three national guidelines in the United States and seven national guidelines in Denmark, France, Germany, the Netherlands, Norway, Spain, and Turkey. The methodology used to develop the guidelines differed greatly. All guidelines recommend a series of blood tests. Some guidelines advise to conduct NCS in all patients, while other guidelines advise to conduct NCS when certain symptoms are present. There is variation in recommendations about the extensiveness of NCS, but all mention measuring the sural nerve and the motor peroneal nerve. The evidence for the recommendations is graded as low. Despite some overlap, there are disparities between guidelines regarding the workup that is advised to do in patients with chronic polyneuropathy. It remains unclear which combination of blood tests are to be strongly recommended. Furthermore, it is undetermined whether NCS are always necessary. [ABSTRACT FROM AUTHOR]

Background and Aims: Ultrasound nerve cross‐sectional area (CSA) of patients affected with axonal neuropathy usually shows normal value. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) seems to represent an exception, showing smaller CSA, but previous reports did not test for biallelic RFC1 gene repeat expansions. Methods: We compared nerve CSA from CANVAS patients (tested positive for biallelic RFC1 gene repeat expansions) with the CSA from a group of patients with chronic idiopathic axonal polyneuropathy (CIAP) who tested negative for RFC1 gene repeat expansions, hereditary axonal neuropathy (Charcot‐Marie‐Tooth type 2, CMT2), and Friedreich ataxia (FRDA). Results: We enrolled 15 CANVAS patients (eight men, mean age 66.3 ± 11.5 years, mean disease duration 9.3 ± 4.1 years), affected with sensory axonal neuronopathy. Controls consisted of 13 CIAP (mean age 68.5 ± 12.8 years, seven men), seven CMT2 (mean age 47.9 ± 18.1 years, four men), 12 FRDA (mean age 33.7 ± 8.8, five men). Nerve ultrasound was performed at median, ulnar, sciatic, sural, and tibial nerves and brachial plexus, bilaterally. The nerve CSA from CANVAS patients was significantly smaller than the one from the other cohorts at several sites with significant and high accuracy at Receiver‐operating characteristic (ROC) curve analyses. RFC1 AAGGG pentanucleotide expansion, disease duration, and disability did not correlate with CSA at any site, after Bonferroni correction. Interpretation: Decreased sonographic nerve sizes, in arms and legs, in patients with sensory neuropathy and normal motor conduction studies could point to CANVAS‐spectrum disease and help guide appropriate genetic testing. [ABSTRACT FROM AUTHOR]

Peripheral nerve disorders refer to any condition that damages the peripheral nervous system with variable presentations and numerous causes. The diagnosis is usually suspected clinically and then confirmed using electrophysiology. Yet electrodiagnostic studies lack precise anatomical delineation and often cannot determine the underlying cause of the peripheral neuropathy. However, thanks to recent technological advances, high-resolution ultrasound (HRUS) and magnetic resonance (MR) imaging have emerged as exceptional modalities to identify the exact site of pathology and demonstrate the underlying etiology. These developments have led to a multimodality approach to peripheral nerve disorders. Imaging provides anatomical and morphological information while functional evaluation remains derived from electrodiagnostic study. This article reviews the HRUS features of common as well as less frequent peripheral nerve disorders: entrapment neuropathies, traumatic injuries, neuralgic amyotrophy, polyneuropathies, and nerve tumors. [ABSTRACT FROM AUTHOR]

Background: Hereditary transthyretin amyloidosis (ATTRv) is a hereditary disease that affects multiple bodily systems. Although sonography generally reveals enlargement of nerves in the limbs, the brachial plexus, and vagus nerve, the clinical significance of these findings remains unclear. Methods: We performed sonographic measurements of the median nerve, cervical spinal nerves at the C5–C7 level, and the vagus nerve in patients with ATTRv and healthy controls. Clinical profiles and cardiac and gastrointestinal examination results were also collected for linear regression analysis. Results: We recruited 47 patients with ATTRv (males/females: 34/13, age: 65.6 ± 5.3 years). The sampled segments were all significantly larger than those of the controls. In the clinical profiles, the sum of the Z scores of the neck triangle nerves (cervical spinal nerves and vagus nerve) and of all nerves (cervical spinal nerves, vagus nerve, and median nerve at the wrist) significantly correlated with the familial amyloid polyneuropathy stage, onset of autonomic nervous system (ANS) symptoms, and autonomic symptom scores. On cardiac examinations, several ultrasonography and magnetic resonance imaging parameters (primarily those that reflect heart volume) were found to be significantly correlated with the sum of the Z scores of the cervical spinal nerves but not with the Z score of the vagus nerve. In gastrointestinal evaluation, the cross‐sectional area of the vagus nerve was correlated with gastric emptying time parameters on scintigraphy. Conclusions: Neck triangle nerve enlargement on sonography correlated with parameters related to ANS dysfunction, indicating that nerve enlargement observed on ultrasonography may serve as a potential surrogate biomarker of ATTRv. [ABSTRACT FROM AUTHOR]

Objectives: Nitrous oxide has long been used as an anesthetic agent. The recreational use and abuse are rapidly increased in Western countries and lead to many neurological complications. Methods: Retrospectively review of seven patients. Results: Seven patients aged 19–32 years, mean 22.6 years. They inhaled nitrous oxide between 1 month to 1 year prior to the symptom onset. They all presented with acute or subacute ataxia or motor, and sensory dysfunction. The two had coexisting encephalopathy. Electrodiagnosis showed sensorimotor axonal polyneuropathy. All patients had borderline or low serum vitamin B12 level. Two had high serum homocysteine or methylmalonic acid levels. Cervical spine MRI in two patients showed posterior column lesion. At average 2 month-follow up, all patients had minimal improvement. While at more than 6 month-follow up, most patients had moderate to complete recovery. Conclusion: Seven patients with nitrous oxide induced neurological disease are reported. All patients present with acute myelopathy and sensorimotor polyneuropathy. Short term outcome is generally not favorable while long term outcome shows remarkable improvement. [ABSTRACT FROM AUTHOR]

ABSTRACT Introduction/Aims Methods Results Discussion Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a paraneoplastic syndrome due to an underlying plasma cell dyscrasia. Polyneuropathy in POEMS syndrome may present as a subacute or chronic symmetric sensorimotor polyneuropathy, with electrophysiological features suggesting demyelination. Motor conduction block (CB), which is mostly seen in chronic inflammatory demyelinating polyneuropathy (CIDP), is considered an atypical electrophysiological feature in POEMS syndrome. We examined the frequency of motor CB in POEMS syndrome.Patients with POEMS syndrome from the database of our department who had been examined between August 2017 and December 2022 were included in this study. All of the patients' clinical and electrophysiological data were retrospectively collected and analyzed.We present the data of seven POEMS syndrome patients. Twenty‐eight upper extremity motor nerve conduction studies were performed on these patients, and partial CB was detected in seven upper extremity motor nerves (25%) of six of the patients. One patient had motor CB in both the median and ulnar nerves.The distinction between POEMS syndrome and CIDP is important since these conditions require different treatments. Motor CB in POEMS may be more common than has been generally believed. Clinicians should consider this when evaluating patients with demyelinating polyneuropathies and be meticulous in identifying CB. Data from much larger numbers of patients are needed. [ABSTRACT FROM AUTHOR]

A great proportion of neuromuscular diseases are immune-mediated, included myasthenia gravis, Lambert-Eaton myasthenic syndrome, acute- and chronic-onset autoimmune neuropathies (anti-MAG neuropathy, multifocal motor neuropathy, Guillain-Barré syndromes, chronic inflammatory demyelinating polyradiculoneuropathy, CANDA and autoimmune nodopathies), autoimmune neuronopathies, peripheral nerve hyperexcitability syndromes and idiopathic inflammatory myopathies. The detection of autoantibodies against neuromuscular structures has many diagnostic and therapeutic implications and, over time, allowed a better understanding of the physiopathology of those disorders. In this paper, we will review the main autoantibodies described in neuromuscular diseases and focus on their use in clinical practice. [ABSTRACT FROM AUTHOR]

Background and Objectives: The use, easy applicability, and costs of accurate diagnostic tools and their utility for early diagnosis, efficient treatment, and follow-up are important. In this study, we aimed to evaluate how electrophysiologic data were reflected in the clinical data of the patients with carpal tunnel syndrome (CTS). Methods: This study included 102 patients with definitive CTS based on electroneuromyography. The Boston Carpal Tunnel Syndrome Questionnaire (BCTQ), the 36-item Short Form (SF-36) questionnaire of the general quality of life, the Visual Analog Scale (VAS), and the painDETECT (PD-Q) neuropathic pain questionnaire were administered by a clinical practitioner. Results: We found a moderate correlation between electrophysiologic measurements and VAS and a weak correlation between PD-Q scores. When we tested the mean scores of the SF-36 quality of life scale subscales for differences across the CTS groups, we found significant differences in the mean scores of the physical functioning, bodily pain, and social functioning subdomains by disease severity (P < 0.05 for each). While the BCTQ Symptom Severity Scale (BCTQ-SSS) was predictive of the early stages of CTS, we found that both BCTQ-SSS and BCTQ-Functional Status Scale scores increased in correlation with advanced stage CTS. Conclusion: In addition to the electrophysiological data, self-report measures may help to pursue a multidirectional approach in patient management by acting as a reference for the diagnosis, treatment, and monitoring of CTS. The correlation between objective data and time-saving, practical, subjective measurements can serve as markers to facilitate a diagnosis. [ABSTRACT FROM AUTHOR]

ABSTRACT: Guillain–Barre syndrome (GBS) is an autoimmune disorder affecting the peripheral nervous system, often triggered by infections. This important medical emergency can also have noninfectious causes, such as trauma, surgery, medication (including vaccinations), and other systemic disorders. Here, we present a rare case of GBS following a snakebite. A 19-year-old man presented to the emergency department with quadriparesis and areflexia after showing initial recovery from a snakebite. Nerve conduction studies revealed motor axonal polyneuropathy. He was treated with intravenous immunoglobulin, which improved his clinical condition. This case report highlights a rare cause of GBS and emphasizes that timely recognition and treatment can significantly reduce morbidity and mortality. Additionally, we reviewed past literature of this rare association. [ABSTRACT FROM AUTHOR]

Background: Gabapentin, a widely prescribed medication for various neuropathic pain conditions, has demonstrated efficacy in managing diverse neurological disorders. While conventional side effects are well‐documented, a growing body of evidence suggests the existence of atypical side effects, necessitating comprehensive exploration. This paper aims to systematically review and summarize the literature on the atypical side effects of gabapentin, shedding light on manifestations beyond the conventional spectrum. Methods: A systematic review was conducted, encompassing peer‐reviewed articles published up to the knowledge cutoff date in November 2023. Databases, specifically PubMed, were searched for relevant studies, focusing on atypical side effects such as myoclonus, ataxia, pediatric aggression, respiratory depression, pneumonia, pregnancy complications, sleep interference, encephalopathy, peripheral edema, suicidal ideation, dyskinesia, anorgasmia, and myopathy. Inclusion criteria comprised studies with a focus on gabapentin‐related atypical side effects, published in recognized journals and involving human subjects. Results: The review identified a spectrum of atypical side effects associated with gabapentin use, ranging from neurological manifestations like myoclonus and ataxia to behavioral changes such as pediatric aggression and suicidal ideation. Additionally, respiratory complications, pregnancy‐related issues, sleep disturbances, and rare complications like encephalopathy and myopathy were observed. Literature synthesis provided insights into the incidence, clinical presentation, and potential mechanisms underlying these atypical side effects. Conclusion: This comprehensive review highlights the diverse range of atypical side effects associated with gabapentin use, expanding beyond conventional knowledge. Healthcare practitioners must be cognizant of these manifestations, recognizing their potential impact on patient well‐being. As clinical decision‐making relies on a thorough understanding of a medication's side effect profile, this review contributes to enhancing awareness and fostering informed practices in the prescription and management of gabapentin. Further research is warranted to elucidate the mechanisms and risk factors associated with these atypical side effects, refining our understanding of gabapentin's safety profile. [ABSTRACT FROM AUTHOR]

The article discusses a case of α‐Methylacyl‐CoA racemase (AMACR) deficiency in a 56-year-old female with unique neurological features, including ataxia, spasticity, and segmental dystonia. AMACR deficiency is a rare disorder characterized by elevated levels of certain acids and can manifest in adulthood or the neonatal period. The patient's diagnosis was confirmed through genetic testing and laboratory findings, highlighting the importance of considering AMACR deficiency in patients with undiagnosed cerebellar ataxia and seizure. The article emphasizes the need for timely diagnosis and appropriate management in such cases. [Extracted from the article]

To identify clinical factors and biomarkers that could contribute to early differential diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) in the pediatric population, with limited evidence. We conducted an observational retrospective study of children diagnosed with AIDP and A-CIDP between January 2014 and December 2022. Demographic data, clinical features, and routine biomarkers were also analyzed. Statistical analysis was used to identify significant features with high sensitivity and specificity. We included 91 AIDP and 17 A-CIDP patients. The A-CIDP group had an older median age (6.33 vs. 4.33 years, p = 0.017), required more complex immunotherapies (p < 0.001), and showed a longer time to nadir over 2 weeks (76.5 % vs. 7.7 %, p < 0.001). Gastrointestinal dysfunction (29.4 % vs. 6.59 %, p = 0.014) and numbness (35.3 % vs. 12.1 %, p = 0.027) were more prevalent in A-CIDP. The AIDP patients had a longer median hospitalization stays (13 vs. 11 days, p < 0.05), more prodromal events (90.1 % vs. 64.7 %, p = 0.013), and more frequent cranial nerve palsy (61.5 % vs. 5.88 %, p < 0.001). The disability scores on admission, discharge, and peak were worse in the AIDP group (p < 0.001). AIDP patients showed higher cerebrospinal fluid protein (p = 0.039), albumin quotient (p = 0.048), leukocytes (p = 0.03), neutrophils (p = 0.010), platelet count (p = 0.005), systemic inflammatory index (SII) (p = 0.009), and gamma-glutamyl transferase (p = 0.039). Multivariable regression identified two independent predictors of early A-CIDP detection: time from onset to peak beyond 2 weeks (OR = 37.927, 95%CI = 7.081–203.15) and lower modified Rankin Scale score on admission (OR = 0.308, 95%CI = 0.121–0.788). Our study found that when the condition continued to deteriorate beyond two weeks with a lower mRS on admission and possibly less cranial nerve involvement, we may favor the diagnosis of pediatric A-CIDP rather than AIDP. • The time to nadir beyond 2 weeks and lower mRS on admission are the strongest predictors of A-CIDP compared to AIDP. • A-CIDP were older, needed complex immunotherapies, showed slower progression, and had more gastrointestinal issues and numbness. • AIDP showed more cranial nerve palsy and higher CSF protein, Qalb, leukocytes, neutrophils, platelet count, SII, and GGT. • The disability scores on admission, discharge, and peak were worse in the AIDP group. [ABSTRACT FROM AUTHOR]

Aim of study. To determine whether a high dose of levodopa-carbidopa intestinal gel (LCIG), expressed as levodopa equivalent daily dose (LE daily dose), is a risk factor for acute polyneuropathy in patients treated with LCIG. Clinical rationale for study. Treatment with LCIG is an effective device-assisted therapy in the advanced stages of Parkinson's Disease (PD). Polyneuropathy is a well-known complication of PD treatment. Patients treated with oral levodopa usually suffer from sub-clinical or mild chronic sensory polyneuropathy. However, severe acute polyneuropathy occurs in patients treated with LCIG, which is causally related to the treatment and leads to its immediate discontinuation. The etiology is not yet clear, but some patients with acute polyneuropathy have been given high doses of LCIG. Material and methods. A retrospective multicentre study of patients treated with LCIG was performed. Patients with acute polyneuropathy were subjected to a detailed analysis including statistical processing. Results. Of 183 patients treated with LCIG in seven centres, six patients (five females, median age 63 years) developed acute polyneuropathy with LCIG discontinuation. The median (interquartile range) initial and final LE daily dose in patients with and without acute polyneuropathy was 3,015 (2,695-3,184) and 1,898 (1,484-2,167) mg, respectively. The final LE daily dose of 2,605 mg cut-off had 83% sensitivity and 93% specificity for the prediction of acute polyneuropathy. Conclusions and clinical implications. The risk of acute polyneuropathy in LCIG-treated patients was associated with a daily LE dose of greater than 2,605 mg or with more than a 62% increase in the daily LE dose during LCIG treatment. [ABSTRACT FROM AUTHOR]

Background Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese).

Distal sensory polyneuropathy (DSP) is a disabling, chronic condition in people with HIV (PWH), even those with viral suppression of antiretroviral therapy (ART), and with a wide range of complications, such as reduced quality of life. Previous studies demonstrated that DSP is associated with inflammatory cytokines in PWH. Adhesion molecules, essential for normal vascular function, are perturbed in HIV and other conditions linked to DSP, but the link between adhesion molecules and DSP in PWH is unknown. This study aimed to determine whether DSP signs and symptoms were associated with a panel of plasma biomarkers of inflammation (d-dimer, sTNFRII, MCP-1, IL-6, IL-8, IP-10, sCD14) and vascular I integrity (ICAM-1, VCAM-1, uPAR, MMP-2, VEGF, uPAR, TIMP-1, TIMP-2) and differed between PWH and people without HIV (PWoH). A cross-sectional study was conducted among 143 participants (69 PWH and 74 PWoH) assessed by studies at the UC San Diego HIV Neurobehavioral Research Program. DSP signs and symptoms were clinically assessed for all participants. DSP was defined as two or more DSP signs: bilateral symmetrically reduced distal vibration, sharp sensation, and ankle reflexes. Participant-reported symptoms were neuropathic pain, paresthesias, and loss of sensation. Factor analyses reduced the dimensionality of the 15 biomarkers among all participants, yielding six factors. Logistic regression was used to assess the associations between biomarkers and DSP signs and symptoms, controlling for relevant demographic and clinical covariates. The 143 participants were 48.3% PWH, 47 (32.9%) women, and 47 (33.6%) Hispanics, with a mean age of 44.3 ± 12.9 years. Among PWH, the median (IQR) nadir and current CD4+ T-cells were 300 (178-448) and 643 (502-839), respectively. Participants with DSP were older but had similar distributions of gender and ethnicity to those without DSP. Multiple logistic regression showed that Factor 2 (sTNFRII and VCAM-1) and Factor 4 (MMP-2) were independently associated with DSP signs in both PWH and PWoH (OR [95% CI]: 5.45 [1.42-21.00], and 15.16 [1.07-215.22]), respectively. These findings suggest that inflammation and vascular integrity alterations may contribute to DSP pathogenesis in PWH, but not PWoH, possibly through endothelial dysfunction and axonal degeneration.

Polyneuropathies are common, with the incidence increasing with older age. The causes of polyneuropathies are diverse and numerous, and it can be challenging for clinicians to determine the etiology of a particular patient's neuropathy. In this article, we systematically detail a practical approach to polyneuropathies, beginning with the most important aspects of the workup, the history and physical. We then discuss the limited diagnostic approach required for patients who present with a distal symmetric polyneuropathy and the more comprehensive approach for patients who present with other neuropathy subtypes. [ABSTRACT FROM AUTHOR]

This article provides an overview of the most common mononeuropathies. It includes a description of the neuroanatomy and function of each nerve which allows clinical localization of the lesion. It also describes the clinical presentation, findings in electrodiagnostic studies, updates in imaging including neuromuscular ultrasound and magnetic resonance neurography, and recommended treatment. While mononeuropathies may be part of polyneuropathy, this scenario is beyond the scope of this article. The most common mononeuropathy is carpal tunnel syndrome. Its prevalence in the United States is estimated at 50 per 1,000. The second most common entrapment neuropathy is ulnar neuropathy at the elbow. The incidence was calculated as 20.9% in a 2005 study. The most common compressive neuropathy of the lower extremity is peroneal neuropathy. Other common mononeuropathies included in this article are radial neuropathy, tibial neuropathy, and femoral neuropathy. [ABSTRACT FROM AUTHOR]

The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot–Marie–Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies. [ABSTRACT FROM AUTHOR]