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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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Pathogenic variants in the SMC1A gene are often dominant-negative and cause an X-linked form of Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features. However, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS. Here we describe an 11-year-old girl with epilepsy, walking disorder, and neurodevelopmental disorder. A neurophysiological examination of nerve conduction velocity showed a mixed, sensory–motor, chronic 4-limb polyneuropathy. Whole-exome sequencing identified the variant c.3145C > T p.(Arg1049*) in SMC1A (NM_006306.3), which can be classified as pathogenic. To the best of our knowledge, among 79 individuals with SMC1A -related DEE reported in the literature, altered peripheral nerve conduction has never been described. In this article, we propose that severe sensory–motor polyneuropathy could be an expansion of the SMC1A -related phenotype. [ABSTRACT FROM AUTHOR]

Background: INCbase is an international, multicenter prospective observational study using a customizable web-based modular registry to study the clinical, biological and electrophysiological variation and boundaries of chronic inflammatory demyelinating polyneuropathy (CIDP). The primary objective of INCbase is to develop and validate a clinical prediction model for treatment response. Methods: All patients meeting clinical criteria for CIDP can be included in INCbase. Collected data include demographics, clinical history, diagnostics and various domains of clinical outcomes. Data is collected at a minimum of every 6 months for two years, and more frequently at the discretion of the investigational site to allow for assessment of unexpected changes in treatment response or clinical status. Participants can be enrolled in various sub-studies designed to capture data relevant to specific groups of interest. Data is entered directly into the web-based data entry system by local investigators and/or participants. Collection and local storage of biomaterial is optional. To develop a clinical prediction model for treatment response, newly diagnosed patients with active disease warranting start of first-line treatment will be included. The study population will be split into a development and validation cohort. Univariate and multivariate logistic regression analysis will be used to identify and combine predictors at start of treatment for treatment response at six months. Model performance will be assessed through discrimination and calibration in an external validation cohort. The externally validated prediction model will be made available to researchers and clinicians on the INCbase website. Discussion: With this study, we aim to create a clinically relevant and implementable prediction model for treatment response to first line treatments in CIDP. INCbase enrollment started in April 2021, with 29 centers across 8 countries and 303 patients participating to date. This collaborative effort between academia, patient advocacy organizations and pharmaceutical industry will deepen our understanding of how to diagnose and treat CIDP. [ABSTRACT FROM AUTHOR]

Background: Anti-IgLON5 disease is an autoimmune encephalitis overlapping with neurodegenerative disorders due to pathological accumulation of hyperphosphorylated tau. It is characterized by several clinical manifestations determined by involvement of different brain areas, and mild response to first-line immunotherapies. We report a case of anti-IgLON5 disease with a multifaceted semiology and an unusually good response to glucocorticoid monotherapy. Case presentation: A 68-year-old man with type 2 diabetes was evaluated for an 8-month history of progressive gait disorder causing frequent falls. He also suffered from obstructive sleep apneas and complained of dysphonia, dysarthria, occasional dysphagia, urinary incontinence, and upper limb action tremor. Neurological examination demonstrated bilateral eyelid ptosis, limitation of ocular horizontal smooth pursuit movements, slow horizontal saccades, and lack of inhibition of the vestibulo-ocular reflex during rapid horizontal head torsions. The patient also displayed involuntary, slow, rhythmic movements of the left periorbital and perioral muscles, spreading to the ipsilateral hemipalate and hemitongue, along with bilateral negative upper limb myoclonus. There were proximal muscle wasting in the upper limbs, proximal weakness of the four limbs, and diffuse fasciculations. Ataxia of stance and gait and of the four limbs was noted. MRI of the brain and spine was unremarkable; nerve conduction studies revealed a chronic, predominantly demyelinating, sensory-motor polyneuropathy, probably due to diabetes. Routine CSF examination was unrevealing and serum GFAP level was 89.6 pg/mL; however, the autoimmunity tests revealed a high-titer positivity for anti-IgLON5 autoantibodies in both CSF and serum, leading to the diagnosis of anti-IgLON5 disease. Symptoms improved significantly after intravenous methylprednisolone. Conclusions: Hemifacial and hemiorolingual myorhythmia along with peculiar oculomotor abnormalities characterizes the multifaceted clinical picture of our case. The complex semiology of our patient may reflect multifocal targeting of the autoimmune process or sequential spreading of tau inclusions in different brain areas. Our patient's optimal response to glucocorticoid monotherapy could be underpinned by a slightly different phenotype in which autoimmunity plays a greater pathogenic role than tauopathy, with a lower burden of tau deposition. In such patients, neurodegeneration and tau accumulation could be merely secondary to immune-mediated neuronal dysfunction, supporting the existence of a group of glucocorticoid-responsive patients. [ABSTRACT FROM AUTHOR]

Background: Bartonella species are fastidious, intracellular bacteria responsible for an expanding array of human pathologies. Most are considered to be transmitted by direct inoculation with infected bodily fluids from a mammalian reservoir species or vector-transmitted through a variety of arthropod species and their excrement. However, there are mounting reports of infection in the absence of documented animal or vector contact. A variety of Bartonella species have been documented in conditions affecting both the peripheral and central nervous systems. More common conditions, including neuroretinitis, are often associated with Bartonella henselae. However, Bartonella quintana, the agent of trench fever, as well as emerging pathogens related to rodent reservoir species, B. grahamii and B. elizabethae, have also been documented. Encephalitis and encephalopathy, also most often associated with B. henselae, have been reported with B. quintana, B. washoensis (ground squirrels) and B. vinsonii subsp. vinsonii (voles) infections. Bartonella infections have also been associated with peripheral neuropathies, such as cranial nerve paresis and neuropathic pain, including infection with less commonly encountered species such as Bartonella koehlerae. Recently, molecular diagnostic testing revealed that DNA from Bartonella spp. was found to be more prevalent in blood of patients with neuropsychiatric disorders such as schizophrenia and psychoses compared to healthy controls. Methods: A systematic literature search was conducted on PubMed, Google Scholar and Web of Science. Search terms included Bartonella and specific neurological conditions and focused on peer-reviewed case reports published after 2012 pursuant to a prior review, with limited exceptions for conditions not previously covered. Published diagnostic testing, serology, molecular testing or pathology, were necessary for inclusion, except for one case which had clinical and epidemiological evidence consistent with diagnosis along with follow-up. Results: Neurobartonelloses included neuralgic amyotrophy, complex regional pain syndrome, chronic inflammatory demyelinating polyneuropathy, cranial nerve paralysis, Guillain-Barré syndrome, peripheral vasculitic polyneuropathy, acute transverse myelopathy, neuroretinitis, encephalitis/encephalopathy, cerebral vasculitis/aneurysm and neuropsychiatric conditions. Conclusions: The breadth of reported symptoms and clinical syndromes associated with an increasing number of Bartonella species continues to expand. Increased clinical awareness of this important zoonotic pathogen is necessary to advance One Health among the medical and veterinary communities. [ABSTRACT FROM AUTHOR]

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We report the case of a 13-year-old child presenting an unusual case of Guillian–Barre Syndrome (SGB). Its presentation is usually a progression of symmetrical muscle weakness that ascends from the lower extremities, moves toward a more proximal pathway, and is accompanied by absent or depressed tendon reflexes. Here, the patient presented with a rare presentation of Pharyngeal–Cervical–Brachial (PCB) variant of Guillain–Barré syndrome, where the symptomatology began with dysphagia and dyspnea, and the weakness was descending paralysis. The objective of this clinical case report is to highlight this extremely rare presentation of PCB variant of Guillain–Barré syndrome. [ABSTRACT FROM AUTHOR]

Background and purpose: The amplitude, timing, and determinants of improvement with available treatments are uncertain in chronic inflammatory demyelinating polyneuropathy (CIDP). Our primary objective was to quantify categorized outcomes with routine care. Methods: We retrospectively studied treatment response within 36 months from initiation in 112 consecutive subjects with CIDP. Response was classified into a proposed new "CIDP treatment‐response category" (CT‐RC), based on achieved endpoints. Determinants of the CT‐RC, of timing of maximum improvement, and of treatment discontinuation were ascertained. Results: The CT‐RC demonstrated high concurrent validity with current outcome measures. Thirty‐six subjects (32.1%) achieved a "complete response," 37 (33%) a "good partial response," 10 (8.9%) a "moderate partial response," and 15 (13.4%) a "poor partial response." Fourteen subjects (12.5%) were "nonresponsive." The CT‐RC was independently predicted only by age. Mean time to maximum improvement was 12.1 months (range = 1–36) and was not associated with any pretreatment covariate. Treatment discontinuation occurred in 24 of 62 (38.2%) partial responders and was only associated with shorter pretreatment disease duration. Nonresponders were older and received a similar number of treatments compared to responders. Conclusions: CT‐RC classification indicates persistent disability in >60% of treatment responders in CIDP. Timing of maximum improvement is variable, frequently delayed, and unpredictable. Treatment withdrawal without deterioration is achievable in approximately 40% of subjects and may be more likely with prompt treatment. Treatment withdrawal in partial responders and limited escalation in nonresponders suggest implication of physician‐ and patient‐related factors in suboptimal response. More effective treatments/treatment methods and better understanding of other factors influencing response are needed in CIDP. [ABSTRACT FROM AUTHOR]

The article in "Movement Disorders Clinical Practice" discusses a case of a 49-year-old man with unilateral upper-limb tremor linked to C6 radiculopathy and demyelinating neuropathy. The patient experienced left-arm tremors triggered by elbow flexion, along with sensory symptoms in the feet. Treatment with onabotulinumtoxinA improved the tremor significantly. The study suggests that the tremor's origin was peripheral due to C6 nerve root pathology and coexistent multifocal acquired demyelinating sensory and motor neuropathy (MADSAM). [Extracted from the article]

Introduction: The revised international standards for neurological classification of spinal cord injury (ISNCSCI) have facilitated the documentation of non‐spinal cord injury‐related impairments, such as chronic peripheral nerve injuries and muscle weakness due to immobility. This advancement addresses potential biases in muscle strength examinations. Utilizing electrically evoked contractions from paralyzed muscles, enhanced by electrodiagnosis, holds promise in identifying false‐negative diagnoses of non‐responsiveness to neuromuscular electrical stimulation. This concept prompts the exploration of polyneuromyopathy arising from nonuse in paralyzed muscles. Case Series Presentation: To substantiate our hypothesis, we recruited nine participants for a case series aimed at elucidating the potential benefits of incorporating the stimulus electrodiagnostic test (SET) to mitigate non‐responsiveness during preparation for functional electrical stimulation (FES)‐assisted cycling. In our convenience sample (n = 5), we conducted neurological mapping based on ISNCSCI and applied SET on the quadriceps. The SET guided optimal dosimetry for evoking contractions and revealed responses similar to those observed in peripheral neuropathies, with α coefficients equal to or lower than 2.00. This observation is likely attributable to nonuse of paralyzed muscles, indicative of an ongoing polyneuropathy in individuals with chronic spinal cord injury (SCI). Discussion: Among the nine initially recruited subjects, seven exhibited responsiveness to neuromuscular electrical stimulation (78% responsiveness), with two participants excluded based on exclusion criteria. In the final five reported cases, all displayed α coefficient values indicating impaired neuromuscular accommodation, and one presented no α coefficient within the normal range. The inclusion of electrodiagnosis appears effective in averting non‐responsiveness, suggesting the presence of ongoing polyneuropathies in paralyzed muscles. [ABSTRACT FROM AUTHOR]

Introduction: Neuropathic pain (NP) is characterised as a lesion or disease directly affecting the somatosensory system. This study aims to analyse the efficacy of botulinum toxin type A (BT-A) in the treatment of neuropathic pain. Methods: This systematic literature review, guided by PRISMA, applied the PICO strategy with the following criteria: (P = patients with neuropathic pain, I = botulinum toxin, C = placebo or active drug, and O = pain relief). Results: Fourteen articles, all randomised controlled trials with a placebo control, were included in the review. A total of 645 patients were randomised, with 353 patients receiving treatment with botulinum toxin type A in doses ranging from 25U to 400U. The evaluated studies addressed trigeminal neuralgia, diabetic polyneuropathy, post-herpetic neuralgia, spinal cord injury, phantom limb pain, and peripheral neuropathic pain after trauma or surgery. Conclusion: BT-A has emerged as a promising treatment for various origins of neuropathic pain. Therefore, future studies should adopt stricter criteria regarding dosage and routes of administration to ensure effective and consistent BT-A application. [ABSTRACT FROM AUTHOR]

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene. SLC19A2 encodes the highaffinity thiamine transport protein 1 (THTR1), which mediates the active transport of thiamine. The classical triad consists of megaloblastic anemia, sensorineural hearing loss, and non-autoimmune diabetes. Apart from this, ophthalmological, cardiological, and neurological findings have also been described. We present a case of thiamine-responsive megaloblastic anemia (TRMA) syndrome diagnosed in an adult with a novel mutation in the SLC19A2 gene. This 38-year-old female patient, a third child from a consanguineous marriage, presented with the classic TRMA triad: sensorineural deafness, megaloblastic anemia, and autoimmune diabetes. Starting thiamine treatment is essential in reducing the devel opmen t/pro gress ion of some complications; it is crucial to increase awareness of the disease and make an early diagnosis. [ABSTRACT FROM AUTHOR]

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Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare disease, and the potential risk of cancer in patients with CIDP remains an important concern during treatment. However, a comprehensive epidemiological study examining this association is yet to be conducted. This study aimed to investigate the incidence of cancer in patients with CIDP in South Korea using data from the Korean Health Insurance Review and Assessment Service (HIRA) database. Methods: Data from the HIRA database between January 2016 and June 2021 were analyzed. The actual incidence of cancer in patients with CIDP was compared with the expected incidence based on the general population statistics in South Korea, with adjustments for age. Results: In total, 888 patients with CIDP were included in the analysis, of whom 50 (5.63% of malignancy incidence) were newly diagnosed with cancer during the study period. Among the patients with CIDP diagnosed with cancer, 32 (64.00%) were aged 60 years or older, and 36 (72.00%) were male. The observed number of cancer diagnoses corresponded to an incidence rate of 5.63%, with a standardized incidence ratio (SIR) of 2.83 (95% confidence interval [CI]: 1.89-4.39) compared to the expected cancer incidence rate of 2.00%. Notably, the SIR for malignancies of lymphoid, hematopoietic, and related tissues, excluding malignant immunoproliferative diseases, multiple myeloma, and plasma cell neoplasms (C81-96, except C88 and C90), was the highest at 8.51 (95% CI: 4.18-19.83). Conclusion: Our study shows a potential association between CIDP and an increased risk of hematological malignancies, which is consistent with previous investigations. Further studies are required to better understand the relationship between CIDP and cancer. [ABSTRACT FROM AUTHOR]

Background: Hereditary transthyretin amyloidosis (ATTRv; v for variant) with polyneuropathy is a rare, progressive, and fatal autosomal dominant disorder. Therapies such as liver transplantation and TTR stabilizations have limitations. Patisiran is a small interfering RNA (siRNA), offering potential as a genetic-level therapy for hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). However, evidence on patisiran's efficacy and safety for ATTRv-PN remains limited. Objectives: This study aimed to further clarify patisiran's efficacy and safety for ATTRv-PN by meta-analysis. Design: Systematic review and meta-analysis. Methods: After literature searches in PubMed, Ovid MEDLINE, Embase, JBI EBP, Cochrane, and ClinicalTrials.gov databases on 7 June 2024, 11 studies with 503 patients were included and clinical data were extracted. Results: Results showed an 88% (95% confidence interval (CI): 81%–94%) pooled responsiveness rate. The standardized mean difference of modified Neuropathy Impairment Score plus 7 nerve tests (mNIS + 7) scores was −0.18 (95% CI: −0.32 to −0.03, p -value 0.018) and Norfolk Quality of Life–Diabetic Neuropathy was −0.21 (95% CI: −0.35 to −0.08, p -value 0.002). In total, 413 adverse events (AEs) (84.8%), 158 serious AEs (32.4%), and 37 deaths (7.6%) were recorded. Most of AEs were mild to moderate. No deaths were attributed to patisiran. However, there is no statistically significant improvement in Neuropathy Impairment Scores. Conclusion: In conclusion, patisiran was effective and safe for patients with ATTRv-PN. More large-scale clinical trials and long-term studies are necessary to further validate patisiran's efficacy and safety. Trial registration: PROSPERO registration ID: CRD42023428838. [ABSTRACT FROM AUTHOR]

Diabetes is known to cause an array of central and peripheral neurological conditions. Among the neuropathic complications associated with diabetes are distal symmetrical polyneuropathy, amyotrophy, polyradiculopathy, autonomic neuropathy, and cranial mononeuropathies. Notably, brachial plexopathy has not been documented as a complication of diabetes. A 50-year-old man with a history of diabetes mellitus presented with severe pain and progressive weakness in his right upper limb. Laboratory investigations, immunopathological analyses, and cerebrospinal fluid examination yielded normal results. The electrodiagnosis and imaging studies were consistent with bilateral brachial plexus neuritis. This unique presentation does not align with the rare diabetic polyradiculopathy of the upper limbs commonly linked to diabetic amyotrophy. The association between diabetes mellitus and brachial plexopathy is uncommon, indicating a possible occurrence of a rare subtype within diabetic neuropathies. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the efficacy and safety of a low‐dose, long‐term rituximab regimen in the treatment of idiopathic CIDP. Methods: This study included 15 CIDP patients treated with rituximab. Patients were administered 600 mg of rituximab intravenously every 6 months. Baseline evaluation was conducted before the initiation of rituximab treatment and subsequent evaluations were conducted 6 months after each rituximab infusion at on‐site visits. Clinical improvement was objectively determined by improvement of scale score at least decrease ≥1 INCAT or mRS or increase ≥4 MRC or ≥8 cI‐RODS after each infusion compared to baseline evaluation. Results: Fifteen CIDP patients were included and 10 of them were typical CIDP and five were distal CIDP. Nine in 15 (60%) patients after first infusion and three in six (50%) patients after second infusion exhibited significant clinical improvement compared to baseline evaluation. Additionally, rituximab facilitated a reduction or cessation of other medications in 73% of patients at last visit. The safety profile was favorable, with no reported adverse events. Conclusion: Rituximab presents a promising therapeutic option for idiopathic CIDP, offering both efficacy and safety with a low‐dose, long‐term regimen. [ABSTRACT FROM AUTHOR]

Objectives: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is frequently complicated by polyneuropathy (ATTRv‐PN) and cardiomyopathy (ATTRv‐CM). The long‐term efficacy of diflunisal on both polyneuropathy and cardiomyopathy in ATTRv patients, especially those with non‐V30M genotypes, has not been fully investigated and compared with that of tafamidis. Methods: We compared the structural and biochemical characteristics of A97S‐TTR complexed with tafamidis with those of diflunisal, and prospectively followed up and compared the progression of polyneuropathy and cardiomyopathy between ATTRv‐PN patients taking diflunisal and those taking tafamidis. Results: Both diflunisal and tafamidis effectively bind to the two thyroxine‐binding sites at the A97S‐TTR dimer–dimer interface and equally and almost sufficiently reduce amyloid fibril formation. Thirty‐five ATTRv‐PN patients receiving diflunisal and 22 patients receiving tafamidis were enrolled. Compared with no treatment, diflunisal treatment significantly delayed the transition of FAP Stage 1 to 2 and Stage 2 to 3 and decreased the deterioration in parameters of the ulnar nerve conduction study (NCS). The progression of FAP stage or NCS parameters did not differ between patients treated with diflunisal and those treated with tafamidis. Both diflunisal and tafamidis treatments significantly decreased radiotracer uptake on 99mTc‐PYP SPECT and stabilized cardiac wall thickness and blood pro‐B‐type natriuretic peptide levels. No significant adverse events occurred during diflunisal or tafamidis treatment. Interpretations: The binding patterns of both tafamidis and diflunisal to A97S‐TTR closely resembled those observed in the wild type. Diflunisal can effectively delay the progression of polyneuropathy and cardiomyopathy with similar efficacy to tafamidis and may become a cost‐effective alternative treatment for late‐onset ATTRv‐PN. [ABSTRACT FROM AUTHOR]

This article discusses a case study of a 30-year-old man with slowly progressive gait disturbances and imbalance since childhood. The patient also developed slurred speech and had high levels of blood cholesterol. Clinical examination revealed a wide-based gait, areflexia, and decreased vibration sense in the lower limbs, but no oculomotor apraxia. Brain MRI showed cerebellar atrophy and dentate nuclei abnormalities. Genetic testing identified a compound heterozygous mutation in the APTX gene, which is associated with ataxia with oculomotor apraxia type 1 (AOA1). The patient's phenotype was milder than typical AOA1 cases, possibly due to the specific genotype. The study highlights the importance of considering AOA1 as a diagnosis even without oculomotor apraxia, especially when suggestive brain MRI findings are present. [Extracted from the article]

Background: Neuropsychiatric systemic lupus erythematosus (NPSLE) is a poorly understood and heterogeneous manifestation of SLE. Common major NPSLE syndromes include strokes, seizures, myelitis, and aseptic meningitis. Easily obtainable biomarkers are needed to assist in early diagnosis and improve outcomes for NPSLE. A frequent end-result of major syndromes is neuronal or glial injury. Blood-based neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) have been utilized as markers for monitoring disease activity and/or severity in other neurodegenerative and neuroinflammatory diseases; however, they have not been evaluated in active major NPSLE. Methods: This was a case-control study. We enrolled patients aged 12-60 years with active major NPSLE, SLE without active major NPSLE, and healthy controls. Active NPSLE was defined as being <6 months from last new or worsening neuropsychiatric symptom. Demographics, clinical data, and serum or plasma biosamples were collected. Results: Thirteen patients with active major NPSLE, 13 age/sex/kidney function matched SLE controls without active major NPSLE, and 13 age/sex matched healthy controls (mean ages 26.8, 27.3, 26.6 years) were included. 92% of each group were female. Major syndromes included stroke (5), autonomic disorder (3), demyelinating disease (2), aseptic meningitis (2), sensorimotor polyneuropathy (2), cranial neuropathy (1), seizures (1), and myelopathy (2). Mean (standard deviation) blood NfL and GFAP were 3.6 pg/ml (2.0) and 50.4 pg/ml (15.0), respectively, for the healthy controls. Compared to healthy controls, SLE without active major NPSLE had mean blood NfL and GFAP levels 1.3 pg/ml (p =.42) and 1.2 pg/ml higher (p =.53), respectively. Blood NfL was on average 17.9 pg/ml higher (95% CI: 9.2, 34.5; p <.001) and blood GFAP was on average 3.2 pg/ml higher (95% CI: 1.9, 5.5; p <.001) for cases of active major NPSLE compared to SLE without active major NPSLE. In a subset of 6 patients sampled at multiple time points, blood NfL and GFAP decreased after immunotherapy. Conclusions: Blood NfL and GFAP levels are elevated in persons with SLE with active major NPSLE compared to disease matched controls and may lower after immunotherapy initiation. Larger and longitudinal studies are needed to ascertain their utility in a clinical setting. [ABSTRACT FROM AUTHOR]

Acute inflammatory demyelinating polyneuropathy Guillain-Barre's syndrome is typically brought on by an immunological reaction following certain post-infections. GBS causes nerve damage resulting in muscle weakness, tingling sensation and paralysis due to nerve injury. (1) It can be comparable to Sarvangavata, according to Ayurveda. The fatty myelin coating that surrounds the nerve cells protects them. The neurological system requires an insulating layer to operate properly, which is created as a result. It can also be compared to medogata vata. Since myelin contains about 40% water, the dry mass is made up of 60% to 75% lipid and 15% to 25% protein. (2) Ayurveda offers Panchakarma therapy to lessen the sickness by easing the symptoms of GBS. A 55-year-old male patient was unable to sit, stand or walk due to abrupt onset of weakness in both lower limbs. The patient was also covid 19 positive, one month before the onset of these symptoms. For the same patient has been hospitalised and underwent proper covid management. Eventually complaints of weakness in the lower limbs and GBS led the patient to seek additional medical attention and receive IV Ig injections. After receiving immunoglobulin therapy there was no expected recovery. Hence the patient has been admitted to our hospital as in patient for further management. [ABSTRACT FROM AUTHOR]

Background: Increasing evidence indicates a higher prevalence of polyneuropathy (PNP) in Parkinson's disease (PD). However, the involvement of large fiber neuropathy in PD still remains poorly understood. Given the lack of longitudinal data, we investigated the course of PNP associated with PD. Methods: In total, 41 PD patients underwent comprehensive clinical evaluation including motor and non-motor assessments as well as nerve conduction studies at baseline and at 2 years of follow-up. The definition of PNP was based on electrophysiological standard criteria. Common causes of PNP were excluded. Results: At baseline, PNP was diagnosed in 65.85% of PD patients via electroneurography. Patients with PNP presented with higher age (p = 0.019) and PD motor symptom severity (UPDRS III; p < 0.001). Over the course of 2 years, PNP deteriorated in 21.95% of cases, and 26.83% remained without PNP. Deterioration of nerve amplitude was most prevalent in the median sensory nerve affecting 57.58% of all PD cases with an overall reduction of median sensory nerve amplitude of 45.0%. With regard to PD phenotype, PNP progression was observed in 33.33% of the tremor dominant and 23.81% of the postural instability/gait difficulties subtype. Decrease of sural nerve amplitude correlated with lower quality of life (PDQ-39, p = 0.037) and worse cognitive status at baseline (MoCA, p = 0.042). Conclusion: The study confirms the high PNP rate in PD, and demonstrates a significant electrophysiological progression also involving nerves of the upper extremities. Longitudinal studies with larger cohorts are urgently needed and should elucidate the link between PD and PNP with the underlying pathomechanisms. [ABSTRACT FROM AUTHOR]

Background: Walking impairment represents a relevant symptom in patients with neurological diseases often compromising social participation. Currently, mixed methods studies on robot-assisted gait training (RAGT) in patients with rare neurological diseases are lacking. This study aimed to explore the feasibility, acceptability, goal attainment and preliminary effects of RAGT in patients with common and rare neurological diseases and understand the intervention context and process. Methods: A mixed-methods feasibility study was conducted at an Austrian rehabilitation centre. Twenty-eight inpatients after stroke in the subacute and chronic phases, with multiple sclerosis, Parkinson's disease, spinal cord injury, spinocerebellar ataxia, acute/chronic inflammatory demyelinating polyneuropathy and motor neuron disease were included. Patients received RAGT for 45 minutes, 4x/week, for 4 weeks. Baseline and post-intervention assessments included gait parameters, walking and balance, and questionnaires. Semi-structured observations were conducted twice during the intervention period and analysed using thematic analysis. Descriptive statistics within the respective disease groups and calculation of effect sizes for the total sample were performed. Triangulation was employed to develop a deeper understanding of the research topic. Results: Data from 26 patients (mean age 61.6 years [standard deviation 13.2]) were analysed. RAGT was highly accepted by patients and feasible, indicated by recruitment, retention, and adherence rates of 84.8% (95% confidence interval, CI 0.7–0.9), 92.2% (95% CI 0.7–1.0) and 94.0% (95% CI 91.4–96.2), respectively. Goal attainment was high, and only mild adverse events occurred. Improvements in walking speed (10-Metre Walk Test, effect size r = 0.876), walking distance (6-Minute Walk Test, r = 0.877), functional mobility (Timed Up and Go, r = 0.875), gait distance (r = 0.829) and number of steps (r = 0.834) were observed. Four themes were identified: familiarising with RAGT; enjoyment and acceptance through a trusting therapeutic relationship; actively interacting; and minimising dissatisfaction. Discussion: Sufficiently powered randomised controlled trials are needed to validate our results. Trial registration: German Clinical Trials Register, DRKS00027887. [ABSTRACT FROM AUTHOR]

Background: There is growing evidence that severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) or COVID-19 infection is associated with the development of immune mediated neuropathies like chronic inflammatory demyelinating polyneuropathy (CIDP), but the impact of SARS-CoV-2 vaccination and COVID-19 infection on genetic disorders such as Charcot-MarieTooth (CMT) remains unclear. Case presentation: A 42-year-old male with occulted CMT neuropathy type lA (CMT1A) who developed limb numbness and weakness after the second SARSCoV-2-vaccination was confirmed by identifying characteristic repeats in the p11.2 region of chromosome 17. Due to the progressive deterioration of muscle strength over 8weeks, limb atrophy, moderately elevated protein counts in the cerebrospinal fluid, and significant improvement with intravenous human immunoglobulin, which were characteristic of acquired inflammatory neuropathies, he was eventually diagnosed with CIDP superimposed on CMT1A. However, after a three-month plateau, the patient contracted COVID-19, which led to repeated and worsening symptoms of limb weakness and atrophy, thus was diagnosed with a recurrence of CIDP and treated with Intravenous immunoglobulin and methylprednisolone 500mg/d for 5 consecutive days, followed by oral prednisone and mycophenolate mofetil tablets. On 2month follow-up, he exhibited remarkable clinical improvement and could walk independently with rocking gait. After 1year of follow-up, the patient's condition was stable without further change. Conclusion: Our case indicates that CMT1A can deteriorate after SARS-CoV-2 vaccination. Thus, SARS-CoV-2 vaccination should be considered a potential predisposing factor for CMT1A worsening. The possible superposition of CMTIA and CIDP in the context of SARS-CoV-2 infection or immunity suggests that any clinical exacerbation in patients with CMT1A should be carefully evaluated to rule out treatable superposition inflammation. In addition, electrophysiological and imaging examination of the proximal nerves, such as the axillary nerve, is helpful for the diagnosis of CIDP. [ABSTRACT FROM AUTHOR]

Objective: Previous observational studies have suggested an association between gut microbiota and diabetic neuropathy (DN). However, confounding factors and reverse causality make the causal relationship between gut microbiota and DN uncertain. We aimed to investigate the interactive causal relationships between the abundance of gut microbiota and DN. Methods: We conducted a Mendelian randomization (MR) analysis to examine the causal relationship between gut microbiota and DN. Genomic data on gut microbiota at the genus level were obtained from the MiBioGen Consortium, including 18,340 individuals of European descent. Data on diabetic polyneuropathy (DPN) were obtained from the FinnGen Consortium, which included 1,048 cases and 374,434 controls, while data on diabetic autonomic neuropathy (DAN) were also obtained from the FinnGen Consortium, including 111 cases and 374,434 controls. Causal effects were primarily estimated using inverse variance weighted (IVW) analysis, supplemented with four validation methods, and additional sensitivity analyses to assess the pleiotropy, heterogeneity, and robustness of instrumental variables. Results: The IVW analysis indicated that Prevotella 9 had a protective effect on DPN (OR = 0.715, 95% CI: 0.521-0.982, P = 0.038), and Bacteroides also showed a protective effect (OR = 0.602, 95% CI: 0.364-0.996, P = 0.048). On the other hand, Ruminococcus 2 had a promoting effect on DPN (OR = 1.449, 95% CI: 1.008-2.083, P = 0.045). Blautia (OR = 0.161, 95% CI: 0.035-0.733, P = 0.018), Clostridium innocuum group (OR = 3.033, 95% CI: 1.379-6.672, P = 0.006), and Howardella (OR = 2.595, 95% CI: 1.074-6.269, P = 0.034) were causally associated with DAN in the IVW analysis, with no evidence of heterogeneity or pleiotropy. Sensitivity analyses showed no significant pleiotropy or heterogeneity. Conclusion: Our study identified a causal relationship between gut microbiota and the increased or decreased risk of diabetic neuropathy. These findings underscore the importance of adopting a comprehensive approach that combines gut microbiota modulation with other therapeutic interventions in the management of diabetic neuropathy. [ABSTRACT FROM AUTHOR]

Nitrous oxide, an inhalational anaesthetic, is popular with adolescents worldwide as an accessible recreational drug which induces a euphoric effect. However, chronic abuse leads to serious complications such as myeloneuropathy and bone marrow suppression by inactivation of vitamin B12. A 17-year-old girl presented with nitrous oxide-induced myeloneuropathy. She reported chronic nitrous oxide inhalation for 10 months and was admitted to the emergency department on account of repeated falls for 2 weeks. She also had ascending paraesthesia in both legs and urinary incontinence. Neurological examination demonstrated bilateral lower extremity weakness [motor power: proximal muscles 4/5, plantar flexion and extensor hallucis longus (EHL) 3/5], decreased sensation, proprioception and vibration of the lower extremities. Deep tendon reflexes were absent in the ankles and knees. Laboratory results demonstrated mild anaemia [Hb 11.2 g/dL (12.0–16.0), haematocrit 35.4% (36–50), MCV 89.4 fl (78–102)] with significant hypersegmented neutrophils in a peripheral blood smear. Serum vitamin B12 was 340 pg/mL (197–771), but serum homocysteine was increased at 65.8 µmol/L (5–15). A nerve conduction study was prolonged, and F-waves were absent from the bilateral perineal and tibial nerves, indicating diffuse demyelinating motor polyneuropathy. Magnetic resonance imaging of the whole spine demonstrated faint T2 hypersignal intensity and an inverted V-shape appearance at the posterior column of the upper thoracic cord (around T2–T6), a pathognomonic sign of vitamin B12 deficiency or subacute combined degeneration of the nitrous oxide-induced myeloneuropathy. A 7-day course of 1000 µg cyanocobalamin was given intramuscularly, followed by weekly doses for 4 weeks. Supplements of daily oral vitamin B1, B6 and B12 (65 µg vitamin B12) were administered, along with rehabilitation. At the 6-months outpatient follow-up, there were a few residual neurological abnormalities: weakness of the left EHL (grade 4/5) and an absent deep tendon reflex in the left ankle. This case emphasises the significant health consequences of chronic abuse of nitrous oxide, myeloneuropathy and megaloblastic anaemia, by inactivation of vitamin B12. The myelopathy is noticeably improved by cyanocobalamin. Abbreviations: EHL: extensor hallucis longus; MRI: magnetic resonance imaging; NCS: nerve conduction study [ABSTRACT FROM AUTHOR]

Key Clinical Message: Patients affected by chronic inflammatory demyelinating polyradiculoneuropathy require close follow up due to the neuronal demyelination along with axonal degeneration associated with the disease process, giving the opportunity to the medical team of adequating therapeutics and other medical interventions, according to the evolution of the symptoms, to prevent irreversible axonal degeneration. [ABSTRACT FROM AUTHOR]