Sensory Axonal Neuropathy Research Articles

An Unusual Presentation of Generalized Tetanus Following Post-Exposure Vaccination Complicated by Acute Motor Sensory Axonal Neuropathy: A Case Report

An Unusual Presentation of Generalized Tetanus Following Post-Exposure Vaccination Complicated by Acute Motor Sensory Axonal Neuropathy: A Case Report

Clinical and Video-Oculographic Characteristics of Spinocerebellar Ataxia Type 27B (GAA-FGF14 Ataxia): A Single-Center Retrospective Study

An intronic GAA repeat expansion in the FGF14 gene was recently identified as a common cause of autosomal dominant GAA-FGF14 ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We genotyped the FGF14 GAA repeat expansion in 52 patients with unsolved late-onset cerebellar ataxia. Brain MRI and nerve conduction study, as well as video-oculographic (VOG) assessment, were performed. Eight patients (15.4%) with pathogenic GAA repeat expansion in the FGF14 gene were found. The median age at onset was 51 years (range—23–63 years). Sensory axonal neuropathy was found in 5/8 patients. Cerebellar atrophy was observed in 5/8 patients, and in one case, pontocerebellar atrophy was found. All tested patients had impaired smooth pursuit, 5/6 patients had impaired vestibulo-ocular reflex suppression, nystagmus, and an increased number of square wave jerks, 4/6 patients had horizontal gaze-evoked nystagmus, 3/6 had spontaneous downbeat nystagmus, and 1/6 had an upbeat one. Video head impulse test gain was lower than 0.8 on both sides in 2/4 patients, along with the presence of overt saccades. Further studies in different cohorts are needed to complete the phenotype of the FGF14-related disorders.

Guillain-Barrè Syndrome-Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.

Background and Objectives: Guillain-Barré syndrome (GBS) is the most frequent cause of acute flaccid paresis in children. The aim of this study was to describe the clinical and electrophysiological findings and outcomes of children with GBS diagnosed in our unit. Moreover, the literature on pediatric GBS cases from the past 5 years was reviewed. In this retrospective study, we reported data on 12 patients (9 male and 3 female patients; mean age: 5 y, 4 mo; range: 9 mo-11 y) clinically diagnosed at the Child Neurology Unit of the AUSL-IRCCS of Reggio Emilia, Italy, between 2000 and 2017 and a brief analysis/comparison with data from the literature. Materials and Methods: Data were collected from medical charts. Results: In our cohort, male patients were more frequent than female ones (9 vs. 3), and upper respiratory tract infection (n = 8, 66.7%) was the most frequent triggering factor. The main clinical symptoms on admission were distal lower limbs' weakness with gait difficulties (83.3%), pain (50%), upper limbs' weakness (50%), and dysphagia for liquids (25%). Peripheral neurophysiological studies revealed acute inflammatory demyelinating polyradiculoneuropathy (AIDP) in 66.6% of the children, acute motor and sensory axonal neuropathy (AMSAN) in 25%, and acute motor axonal neuropathy (AMAN) in 8.3%. Ten individuals (83.3%) received timely treatment with intravenous immunoglobulins (IVIG), and, out of these ten patients, 58% received concomitant treatment with IV methylprednisolone because of a progressive disease course. Complete remission was observed in the majority of individuals (91.6%) within 6 months of symptom onset. Conclusions: Different subtypes of GBS can affect children; however, the outcome is usually positive. Early treatment appears to be important for a favorable outcome.

Vasculitis associated with psoriatic arthritis: a case report

BackgroundPsoriatic arthritis is a chronic inflammatory condition associated with psoriasis, which affects joints. The coexistence of vasculitis, an inflammation of blood vessels, with psoriatic arthritis is rare, highlighting a complex interplay between autoimmune diseases that affect both joints and vascular structures.Case presentationWe report on a 56-year-old male with a long-standing history of psoriasis and psoriatic arthritis, who presented with new-onset skin lesions and neurological symptoms. Clinical evaluations confirmed the presence of leukocytoclastic vasculitis and asymmetric sensory motor axonal neuropathy. The absence of positive results from various standard tests led to a challenging diagnostic process, ultimately pointing towards vasculitis associated with psoriatic arthritis. The patient was treated with corticosteroids and immunosuppressive therapy, leading to partial symptom improvement.ConclusionsThis case underlines the complex and often overlapping nature of autoimmune conditions, particularly the occurrence of vasculitis in patients with psoriatic arthritis, which is rare. It stresses the importance of considering vasculitis in patients with psoriatic arthritis who present with unexplained skin lesions and neurological symptoms. This case adds to the spectrum of psoriatic disease manifestations and suggests a need for further research to explore the underlying mechanisms and improve management strategies.

Median nerve lesions in pediatric displaced supracondylar humerus fracture: A prospective neurological, electrodiagnostic and ultrasound characterization.

Supracondylar humerus fractures (SCHFs) are the most common elbow fractures in children. Traumatic median nerve injury and isolated lesions of its pure forearm motor branch, anterior interosseus nerve (AIN), have both been independently reported as complications of displaced SCHFs. Our main objectives were to characterize the neurological syndrome to distinguish median nerve from AIN lesions and to determine the prognosis of median nerve lesions after displaced SCHFs. Ten children were prospectively followed for an average of 11.6 months. Patients received a standardized clinical examination and high-resolution ultrasound of the median nerve every 1-3 months starting 1-2 months after trauma. Electrodiagnostic studies were performed within the first 4 months and after complete clinical recovery. All children shared a clinical syndrome with predominant but not exclusive affection of AIN innervated muscles. High-resolution ultrasound uniformly excluded persistent nerve entrapment and neurotmesis requiring revision surgery but visualized post-traumatic median nerve neuroma at the fracture site in all patients. Electrodiagnostic studies showed axonal motor and sensory median nerve neuropathy. All children achieved complete functional recovery under conservative management. Motor recovery required up to 11 months and differed between involved muscles. It was shown that neurological deficits of the median nerve in displaced SCHFs exceeded an isolated AIN lesion. Notably, detailed neurological follow-up examinations and sonographic exclusion of persistent nerve compression were able to guide conservative therapy in affected children. Under these conditions the prognosis of median nerve lesions was excellent despite severe initial deficits, development of neuroma and axonal injury.

A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia

Cytochrome-c oxidase (COX) is part of the mitochondrial complex IV (CIV). COX deficiency is usually associated with tRNA variants, and less frequently with variants in COX assembly factors. Mutations in COX subunits encoded by mitochondrial DNA and nuclear DNA are rare, likely because most of them are associated to very severe phenotypes with early lethality. COX18, an assembly factor of CIV, has long been analyzed as a potential cause of mitochondrial disease. To date, only one patient has been identified carrying a homozygous missense variant in COX18, associated with neonatal encephalo-cardiomyopathy and axonal sensory neuropathy. Here, we describe a 40-year-old patient, asymptomatic until 7 months of age, who presented with progressive muscle weakness resembling spinal muscle atrophy type-2, associated with oculofacial apraxia and dysarthric speech. Electrophysiology analysis highlighted a severe sensory-motor neuropathy. Muscle biopsy showed striking and diffuse decreases of COX staining and a substantial reduction of CIV activity. Muscle biopsy showed no ragged-red fibers, although ultrastructural mitochondrial alterations were evident. A novel homozygous variant (c.598G>A), located in the last nucleotide of exon 3, was detected in COX18 by whole-exome sequencing, which affected the splicing donor site, as demonstrated by cDNA-seq. The patient fibroblasts express a truncated form of COX18 (COX18Δ112-240) capable of assembling CIV and CIV-involving supercomplexes. However, CIV activity was decreased. COX18 full-length (COX18-fl) overexpression partially rescued CIV activity in the patient fibroblasts. The rescue of the null CIV activity in COX18-KO-HEK293 cells by overexpressing of COX18Δ112-240 was significantly lower than in cells with COX18-fl. In addition, cox-18 downregulation in C. elegans resulted in slow growth and, diminished reduced motility phenotypes and as well as severe fragmentation of the mitochondrial network. Our case expands the phenotypes associated with COX18 variants and supports the pathogenic role of COX18 as the cause of a severe encephaloneuropathy syndrome.

Comprehensive Evaluation of Sporadic Late-Onset Cerebellar Ataxias: Clinical Presentation, Diagnostic Challenges, and Treatment Outcomes.

Sporadic late-onset cerebellar ataxias (SLOCA) present a diagnostic challenge due to their heterogeneous etiologies and complex clinical manifestations. This retrospective study aimed to conduct a comprehensive evaluation of six male patients diagnosed with SLOCA, with a mean age of 55 years and an average symptom onset at 47 years. All patients presented with gait and balance disturbances, with additional sensory abnormalities observed in two cases. Neurological examinations revealed varied cerebellar syndromes, including static and static-kinetic presentations, accompanied by peripheral neurogenic syndromes in some instances. Brain MRI findings showed cerebellar atrophy, predominantly involving the vermis, in a subset of patients. Biochemical and serological investigations yielded mostly unremarkable results, although two patients exhibited significant vitamin E deficiency and anti-Hu antibodies (anti-neuronal nuclear antibody type 1). Electromyography confirmed sensory axonal neuropathy in those with peripheral neurogenic syndromes. Treatment with TOCO 500 mg (Vitamin E) was administered to four patients, with follow-up indicating stable disease progression in two cases. This study underscores the complexity of SLOCA and the need for a multidisciplinary approach to diagnosis and management. Further research is warranted to elucidate the underlying mechanisms and improve clinical outcomes for affected individuals.

Peripheral Nerve and Muscle Disorders Associated with Sjögren's Syndrome

Sjögren's syndrome is often accompanied by various neurological complications, among which peripheral neuropathy is the most common. A variety of clinical phenotypes of peripheral neuropathy, including axonal polyneuropathy and sensory ataxic neuropathy are reported in the literature. We present an overview of the pathophysiology and differential diagnosis of each phenotype. Immunotherapy using corticosteroids and high-dose intravenous immunoglobulin therapy tends to elicit varied therapeutic responses depending on the peripheral neuropathy phenotype. We also discuss myositis, a possible complication of Sjögren's syndrome.

Acute Motor and Sensory Axonal Neuropathy (AMSAN) Relapse After COVID-19 Infection: A Case Report and Literature Review (P3-13.010)

Acute Motor and Sensory Axonal Neuropathy (AMSAN) Relapse After COVID-19 Infection: A Case Report and Literature Review (P3-13.010)

A study on the role of serum uric acid in differentiating acute inflammatory demyelinating polyneuropathy from acute-onset chronic inflammatory demyelinating polyneuropathy.

Clinical symptoms and laboratory indices for acute inflammatory demyelinating polyneuropathy (AIDP), a variant of Guillain-Barré syndrome, and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) were analyzed to identify factors that could contribute to early differential diagnosis. A retrospective chart review was performed on 44 AIDP and 44 A-CIDP patients looking for any demographic characteristics, clinical manifestations or laboratory parameters that might differentiate AIDP from acutely presenting CIDP. In Guillain-Barré syndrome patients (N = 63), 69.84% (N = 44) were classified as having AIDP, 19.05% (N = 12) were found to have acute motor axonal neuropathy, 6.35% (N = 4) were found to have acute motor and sensory axonal neuropathy, and 4.76% (N = 3) were found to have Miller Fisher syndrome. Serum uric acid (UA) was higher in A-CIDP patients (329.55 ± 72.23 μmol/L) than in AIDP patients (221.08 ± 71.32 μmol/L) (p = 0.000). Receiver operating characteristic analyses indicated that the optimal UA cutoff was 283.50 μmol/L. Above this level, patients were more likely to present A-CIDP than AIDP (specificity 81.80%, sensitivity 81.80%). During the follow-up process, serum samples were effectively collected from 19 AIDP patients during the rehabilitation phase and 28 A-CIDP patients during the remission stage, and it was found that UA levels were significantly increased in A-CIDP (remission) (298.9 ± 90.39 μmol/L) compared with AIDP (rehabilitation) (220.1 ± 108.2 μmol/L, p = 0.009). These results suggest that serum UA level can help to differentiate AIDP from A-CIDP with high specificity and sensitivity, which is helpful for early diagnosis and guidance of treatment.

Nerve ultrasound in Friedreich’s Ataxia: enlarged nerves as a biomarker of disease severity

ObjectiveIn Friedreich's ataxia research, the focus is on discovering treatments and biomarkers to assess disease severity and treatment effects. Our study examines high-resolution nerve ultrasound in these patients, seeking correlations with established clinical markers of disease severity. MethodTen patients with Friedreich’s Ataxia underwent a comprehensive clinical assessment with established scales (SARA, FARS, mFARS, INCAT, ADL 0-36, IADL). Additionally, they underwent nerve conduction studies and high-resolution nerve ultrasound. Quantitative evaluation of nerve cross-sectional area, conducted at 24 nerve sites using high-resolution nerve ultrasound, was compared with data obtained from 20 healthy volunteers. ResultsAll the patients had a severe sensory axonal neuropathy. High-resolution nerve ultrasound showed significant increase, in cross sectional area, of median and ulnar nerves at the axilla and arm. The cumulative count of affected nerve sites was directly associated with clinical disability, as determined by SARA, FARS, mFARS, ADL 0-36, and INCAT score, while displaying an inverse correlation with IADL. ConclusionsOur study shows that high-resolution ultrasound reveals notable nerve abnormalities, primarily in the upper limbs of patients diagnosed with Friedreich’s Ataxia. The observed correlation between these nerve abnormalities and clinical disability scales indicates the potential use of this technique as a biomarker for evaluating disease severity and treatment effects. SignificanceNerve Ultrasound is a potential biomarker of disease severity in Friedreich’s Ataxia.

Nerve conduction study findings in females with systemic lupus erythematosus

Aim of the workTo investigate the frequency, characteristics, and associated factors of systemic lupus erythematosus-related peripheral neuropathy (SLE-PN) using nerve conduction study (NCS). Patients and methodsA retrospective chart review was conducted at the Rheumatology clinics of King Abdulaziz University Hospital, Jeddah, Saudi Arabia from 2016 to 2020. Eligibility included systemic lupus erythematosus (SLE) diagnosed patients with at least one NCS result in their clinical records. Demographic, clinical, and biological characteristics were collected. ResultsAmong 101 female SLE patients, abnormal NCS findings were observed in 11 (10.9%) patients. Of those with abnormal NCS, 27.3% showed mixed axonal and demyelinated motor neuropathy, 18.2% had sensory-motor axonal neuropathy, another 18.2% presented with axonal left common peroneal neuropathy, and the same percentage was observed for axonal sensory neuropathy. Comparisons between abnormal and normal NCS groups in a study population revealed that the abnormal NCS group had significantly higher proportions of non-Saudi nationality, lupus nephritis, seizures, and high SLICC DI. Furthermore, this group was associated with higher ANA titers and exhibited a non-significant trend towards increased positive anti-DNA frequency. Multivariate analysis identified non-Saudi nationality and the presence of end-organ damage as two significant predictors of SLE-related PN. ConclusionPeripheral neuropathy in SLE patients in Saudi Arabia is not uncommon, specifically those with heightened disease activity, organ damage, or disadvantaged socioeconomic backgrounds. Predominantly, the condition presents as axonopathy impacting sensory nerves, with possible motor involvement. The critical role of electrophysiological studies in early detection and improved patient management is high lightened.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Xeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DNA repair systems, thus defining eight different genotypes (XPA, XPB, XPC, XPD, XPE, XPF, XPG and XP variant or XPV). In addition to cutaneous and ophthalmological features, some patients present with XP neurological disease. It is unknown whether the different neurological signs and their progression differ among groups. Therefore, we aim to characterize the XP neurological disease and its evolution in the heterogeneous UK XP cohort. Patients with XP were followed in the UK National XP Service, from 2009 to 2021. Age of onset for different events was recorded. Cerebellar ataxia and additional neurological signs and symptoms were rated with the Scale for the Assessment and Rating of Ataxia (SARA), the Inventory of Non-Ataxia Signs (INAS) and the Activities of Daily Living questionnaire (ADL). Patients' mutations received scores based on their predicted effects. Data from available ancillary tests were collected. Ninety-three XP patients were recruited. Thirty-six (38.7%) reported neurological symptoms, especially in the XPA, XPD and XPG groups, with early-onset and late-onset forms, and typically appearing after cutaneous and ophthalmological symptoms. XPA, XPD and XPG patients showed higher SARA scores compared to XPC, XPE and XPV. SARA total scores significantly increased over time in XPD (0.91 points/year, 95% confidence interval: 0.61, 1.21) and XPA (0.63 points/year, 95% confidence interval: 0.38, 0.89). Hyporeflexia, hypopallesthaesia, upper motor neuron signs, chorea, dystonia, oculomotor signs and cognitive impairment were frequent findings in XPA, XPD and XPG. Cerebellar and global brain atrophy, axonal sensory and sensorimotor neuropathies, and sensorineural hearing loss were common findings in patients. Some XPC, XPE and XPV cases presented with abnormalities on examination and/or ancillary tests, suggesting underlying neurological involvement. More severe mutations were associated with a faster progression in SARA total score in XPA (0.40 points/year per 1-unit increase in severity score) and XPD (0.60 points/year per 1-unit increase), and in ADL total score in XPA (0.35 points/year per 1-unit increase). Symptomatic and asymptomatic forms of neurological disease are frequent in XP patients, and neurological symptoms can be an important cause of disability. Typically, the neurological disease will be preceded by cutaneous and ophthalmological features, and these should be actively searched in patients with idiopathic late-onset neurological syndromes. Scales assessing cerebellar function, especially walking and speech, and disability can show progression in some of the groups. Mutation severity can be used as a prognostic biomarker for stratification purposes in clinical trials.

Prevalence of Peripheral Neuropathy (PN) Among Patients with Asymptomatic Monoclonal Gammopathies: A Clinical & Electrophysiological Study

Introduction: Asymptomatic monoclonal gammopathies (MGUS, SMM or aWM) are common among adults >50y. Peripheral neuropathy (PN) refers to any disorder of the peripheral nervous system including mononeuropathies, and symmetrical or asymmetrical polyneuropathy. PN is also common among individuals >50y. Common risk factors include diabetes, vitamin deficiencies, alcohol, renal insufficiency, hypothyroidism, autoimmune diseases and exposure to neurotoxic medication. Epidemiological studies have shown an association between monoclonal gammopathies and PN but a mechanistic link has been established only for some (anti-MAG IgM-related PN, amyloidosis, POEMS syndrome etc). However, the true prevalence of PN among patients (pts) with monoclonal gammopathies is unknown and remains challenging to associate monoclonal gammopathy with PN. The aim of our study is to establish the prevalence of PN in a large cohort of pts with asymptomatic monoclonal gammopathy and identify potential determinants. Methods: This is an ongoing prospective, non-invasive study aiming to screen ~1500 pts with asymptomatic monoclonal gammopathies for PN. Pts under regular follow-up at the Department of Therapeutics, University of Athens, Greece are screened for neuropathic symptoms using the Michigan Neuropathy Screening Instrument (MNSI), a validated screening tool for the presence of PN that consists of 15 yes/no items. A cut off ≥ 4 has been proposed as a screening cut off in diabetic PN. All pts scoring ≥4 on MNSI and pts scoring <4 but without risk factors for PN were assessed clinically and electrophysiologically (EDX) with standard nerve conduction studies (NCS), sympathetic skin response (SSR) test and - if needed - electromyography (EMG) by a specialist. NCS protocol includes assessment of the median nerve (motor and sensory), superficial radial nerve (sensory), tibial nerve (motor) and sural nerve (sensory) conduction studies. Axonal PN was diagnosed when the sural to radial ratio (SRAR) is below 0.25 and/or the sural nerve action potential is below 6μV, demyelinating PN if the EAN/PNS criteria for demyelination are fulfilled and sympathetic dysfunction when the SSR amplitude was <500 uV. Results: As of to date, 320 pts (42.8% males, median 67y) with asymptomatic monoclonal gammopathy have been screened; 64.3% had a diagnosis of MGUS (72.3% IgG, 14.1% IgA, 6.3% IgM, 7.3% light chain only), 23.9% had SMM and 11.8% had aWM. Among enrolled pts, 217 (68%) had no common risk factors for PN and 82 pts (25.6%) had an MNSI score ≥4; the commonest symptoms were cramps (48.4%), weakness (26.9%) and pain when walking (26.3%). Among pts without risk factors for PN, 42 (19.4%) had an MNSI score ≥ 4 and the commonest symptoms were cramps (44.7%), pain when walking (22.1%) and weakness (21.7%) (Table 1). There was no difference in the prevalence of MNSI score ≥4 among pts with different paraprotein types. To date, 105 pts (41.9% males, median 66y) had EDX evaluation, of which 77 (73%) had no common risk factors for PN. Among the EDX evaluated pts, 23 (21.9%) had large fiber PN, 42 (40%) had sudomotor dysfunction and 53 (50.5%) had large fiber PN and/or sudomotor dysfunction. Among the cohort of pts without risk factors for PN, 13 (16.9%) had large fiber PN, 25 (32.5%) had sudomotor dysfunction and 34 (44.2%) had large fiber PN and/or sudomotor dysfunction. Nineteen pts that went through EDX were asymptomatic (MNSI=0), of those 4 (21.1%) had large fiber PN, 4 (21.1%) had sudomotor dysfunction and 7 (33.3%) had large fiber PN and/or sudomotor dysfunction. Only one patient, without other risk factors, had a demyelinating neuropathy while all other pts had a length-dependent axonal sensory or sensorimotor neuropathy. Pts with large fiber PN were older (73.7±11.4 vs 63±9.4, p<0.001) but no significant differences were found regarding sex, or paraprotein or light chain type. Pts with sudomotor dysfunction were more likely to have a non-IgM monoclonal gammopathy (90.2% vs 72.6 %, p=0.029). Conclusion: Peripheral neuropathy is common in pts with monocloncal gammopathies affecting ~20% of those without any other risk factors for PN. Although most pts with PN describe mild symptoms, both large fiber PN and sudomotor dysfunction may remain completely asymptomatic. This data provides a new insight into the prevalence of PN in pts with monoclonal gammopathies with implications for future research. The study is ongoing and updated results will be presented.

Dengue-induced Guillain–Barre syndrome: a case series

BackgroundDengue virus is an RNA virus that is associated with a myriad of neurological manifestations. Less than 5% of patients develop neuromuscular complications. Guillain–Barre syndrome (GBS) is an uncommon neurological sequelae of dengue fever. Studies have shown acute motor axonal neuropathy (AMAN) and acute motor sensory axonal neuropathy (AMSAN) to be the most common variants associated with dengue fever in Asian countries. Very few cases have been reported from Pakistan to date.Case presentationWe present four adult patients with dengue-associated GBS. The time interval between onset of symptoms of dengue fever and development of lower limb weakness in all patients was between 6 and 20 days. Dengue was diagnosed based on either serology or dengue NS1 antigen testing. Acute inflammatory demyelinating polyneuropathy (AIDP) (n = 1), AMAN (n = 1), and AMSAN (n = 2) variants were identified. One patient had a coexisting myopathy which has not been previously reported. All patients showed good recovery after treatment with plasmapheresis or intravenous immunoglobulins.ConclusionsOur case series is valuable in contributing to the limited pool of reported cases of dengue fever complicated by GBS. Early detection of new onset symmetrical limb weakness during or after a dengue infection is imperative for early treatment and to limit disability.

Neurophysiological Grading of Ulnar Nerve Entrapment Across wrist and Across Elbow

Ulnar nerve entrapment across the elbow (UNEAE) and across the wrist (UNEAW) is the second most common entrapment of the hand after carpal tunnel syndrome. There are few grading available for UNEAE and fewer in UNEAW. None of those gradings compares the involvements of both (wrist and elbow). None of the literature looks at the involvement of sensory axonal neuropathy in different stages. The aim of this research are;1. To see the relation of sensory nerve involvement across the wrist with the entrapment across the elbow and to evaluate its effectiveness in each level without going for any invasive tests like needle EMG examination. 2. To identify the lesion below and across the wrist in terms of support, the clinical Physiologist (CP) grades them properly and helps the consultant decide to treat with conservative or surgical treatment.3. To compare the recording from the first dorsal interosseous (FDI) muscles with the abductor digiti minimi (ADM) muscle to see which muscle is more sensitive and shows early changes in ulnar nerve entrapment. 4. To differentiate the grading of Guyon’s canal with sensory entrapment below the wrist.5. To analyse the severity of entrapment in both areas (below/across wrist and elbow).The proposed revised grading system is based on more nuanced, descriptive categories, ranging from "early”, "mild”, "moderate” and "severe”. To create a full grading system of UNEAW and UNEAE some additional clinical grading is proposed.Method: Data was collected based on the extensive and detailed grading system previously described by Padua. The tests were performed by a qualified clinical physiologist (neurophysiology) using a Key Point 9033A07 machine, used in line with the departmental protocol (peripheral protocol 1, 2022). The Association of Neurophysiological Scientists (ANS) and British Society of Clinical Neurophysiology (BSCN) (2014) guidelines and minimum standards for the practice of clinical neurophysiology in the United Kingdom were followed. All data was recorded numerically to ensure methodological reliability.Result: The data was collected over one year six months from January 2022 till June 2023. A total of 313 abnormal hands and 200 normal hands were included in this study. Martin Gruber anomalies, which are normal variant, are not included in this study. Out of 313 abnormal hands, 149 hands were right hands and 164 were left hands. 46 hand shows lesion below the wrist and 56 hands shows lesion around Guyon’s canal. Across the elbow shows more mild cases as compared to early, moderate, and severe cases. Moderate ulnar nerve lesion across the elbow are more associated with sensory axonal and double crush cases, which were seen more in mild and moderate cases compared to early and severe cases. Conclusion: Findings show that FDI is more sensitive compared to ADM to recording early changes in ulnar nerve entrapment across the elbow. Additionally, the results show that sensory axonal involvement and double crush syndrome need to be included in the grading system which is not accounted for in any present research publication.

Systemic Lupus Erythematosus Initially Presenting as Acute Motor andSensory Axonal Neuropathy Variant ofGuillain-Barre Syndrome ina Healthy Active Duty Female.

Guillain-Barre syndrome (GBS) is an acute monophasic immune-mediated polyradiculoneuropathy characterized by rapidly evolving ascending weakness, mild sensory loss, and hypo- or areflexia, typically progressing to peak symptoms over the course of 4 weeks. The precise mechanism is unclear but is proposed to be an immune-mediated reaction with the generation of antibodies against peripheral nerves triggered by a preceding viral infection. Acute motor and sensory axonal neuropathy (AMSAN) is a rare and severe variant of Guillain-Barre syndrome with limited published literature. Discussion of risk factors for this subtype has not been done in a systematic way. This case report involves a 34-year-old, active duty, West African female, who immigrated to the United States in 2019. She presented with worsening diplopia, bilateral distal upper and lower extremity paresthesias as well as progressively worsening bilateral upper extremity weakness. Her clinical picture was complicated by constitutional symptoms, diffuse lymphadenopathy, no preceding viral illness, and marked clinical deterioration. Ultimately, she was diagnosed with acute motor and sensory axonal neuropathy in the setting of a new diagnosis of systemic lupus erythematosus, a rarely described association emphasizing the importance of a thorough evaluation for underlying causes of acute neurologic pathologies.

GUILLAIN-BARRÉ SYNDROME

Guillain-Barré Syndrome (GBS) is an infection-preceded autoimmune disease attacking myelin sheath of neurons through molecular mimicry, causing neuron demyelination and conduction disruption. GBS is classified into four subtypes: Acute Inflammatory Demyelinating (AIDP), Acute Motor Axonal Neuropathy (AMAN), Acute Motor Sensory Axonal Neuropathy (AMSAN), and Miller Fisher Syndrome. It affects spinal radix which resulted in polyneuropathy, showing mainly symptoms of ascending paresis of the extremity and areflexia. Cerebrospinal fluid evaluation is essential to distinguish GBS from its vast differential diagnosis, with main finding of albuminocytologic dissociation. GBS needs to be managed as fast as possible with intravenous immunoglobulin administration or fresh frozen plasma exchange due to its fast progression.

Targeting SARM1 improves autophagic stress-induced axonal neuropathy

ABSTRACT Macroautophagy/autophagy, a lysosome-dependent self-degradative process, is a critical mechanism for the clearance of misfolded proteins and dysfunctional organelles in neurons. In the peripheral nervous system, autophagic stress is associated with the development of peripheral neuropathy. However, the molecular mechanism of axonal neuropathy induced by autophagic stress due to dysfunction of autophagy in peripheral neurons in vivo is still unclear. We found that dorsal root ganglion (DRG) neuron-specific atg7 (autophagy related 7) knockout (atg7-cKO) mice employing two different Cre recombinase systems exhibited sensory neuropathy approximately 2 months after birth. In electron microscopy analysis, axon degeneration was clearly observed in the myelinated fibers of the sciatic nerve before the appearance of neuronal cell death. Dystrophic axons filled with abnormal vesicular accumulations and amorphous inclusions were specifically localized in the myelinated axons within the DRG in atg7-cKO mice, indicating the presence of autophagic stress in proximal axons. In line with the EM findings, the mutant mice showed preferential induction of axonal injury-associated genes, including ATF3 (activating transcription factor 3), in large-size DRG neurons that constitute myelinated fibers without axotomy. SARM1 (sterile alpha and HEAT/Armadillo motif containing 1), the central executioner of Wallerian degeneration, was activated in the sciatic nerves of atg7-cKO mice, and axonal degeneration and sensory neuropathy in atg7-cKO mice were prevented via expression of a dominant-negative Sarm1 transgene. Our findings demonstrate the importance of SARM1-dependent axon degeneration in the development of peripheral sensory neuropathy induced by impairment of autophagy. Abbreviations AAV: adeno-associated virus; ATF3: activating transcription factor 3; ATG7: autophagy related 7; AVIL: advillin; cADPR: cyclic ADP ribose; CALC: calcitonin/calcitonin-related polypeptide; CMT: Charcot-Marie-Tooth disease; cKO: conditional knockout; DEG: differentially expressed gene; DRG: dorsal root ganglion; FE-SEM: field emission scanning electron microscopy; IF: immunofluorescence; NCV: nerve conduction velocity; PVALB: parvalbumin; RAG: regeneration-associated gene; ROS: reactive oxygen species; SARM1: sterile alpha and HEAT/Armadillo motif containing 1; SYN1: synapsin I

Guillain-Barré Syndrome in Children: A Narrative Review

Among the most typical reason of sudden, acquired weakness is Guillain-Barré Syndrome characterized by symmetrical ascending paralysis which is frequently sparked by an earlier illness. “Acute Inflammatory Demyelinating Polyneuropathy,” one of the prevailing kinds of Guillian-Barre Syndrome, is divided into four subtypes: acute inflammatory demyelinating polyradiculoneuropathy, Miller Fisher syndrome, acute motor sensory axonal neuropathy, and acute motor axonal neuropathy. Guillain-Barré syndrome can happen at any age, but it is frequently seen in persons over 40 years. More often, males are impacted. This syndrome lasts for 4 weeks, but if it is prolonged than that, it can be categorized as subacute, and if it lasts longer than 8 weeks, it can be classified as chronic. An antecedent infection is present in 70% of patients. The most frequent trigger for Guillain-Barré Syndrome is Campylobacter jejuni, along with the Cytomegalovirus, Zika virus, mycoplasma, hepatitis A and B, and human immunodeficiency virus. The antecedent infection generally occurs 1 to 3 weeks before. The pathogenesis of the disease solely based on the molecular mimicry. In some circumstances, collapse of respiratory system and autonomic dysfunction might make Guillain-Barré Syndrome more difficult to treat.