Background Clinical presentation, electrophysiological subtype, and outcome of the Guillain–Barre' Syndrome (GBS) may differ between patients from different geographical regions. This study aims to assess clinical–neurophysiological features of an adult, Italian GBS cohort over 11 years. Methods Retrospective (from 1 January 2011 to 31 December 2021) analysis was carried out on patients admitted to the Siena University Hospital who fulfilled the GBS diagnostic criteria. Demographic data, clinical characteristics, treatment, need of mechanical ventilation (MV), laboratory and electrophysiological tests, preceding infections/vaccination/other conditions, and comorbidities were collected for each patient. Results A total of 84 patients (51 men, median age of 61 years), were identified. GBS subtype was classified as acute inflammatory demyelinating polyneuropathy (AIDP) in the 66.6% of patients, acute motor/sensory axonal neuropathy (AMAN/AMSAN) in 20.2%, and the Miller Fisher syndrome in 5 (5.9%). Flu syndrome and gastrointestinal infection were the most common preceding conditions. In total, five (5.9%) subjects had concomitant cytomegalovirus (CMV) infection. Cranial nerve involvement occurred in 34.5% of subjects. Differences between the axonal and AIDP forms of GBS concerned the presence of anti-ganglioside antibodies. In total, seven (8.33%) patients required MV. Discussion The epidemiological and clinical characteristics of GBS in different countries are constantly evolving, especially in relation to environmental changes. This study provides updated clinical-epidemiological information in an Italian cohort.

INTRODUCTION:Spastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. Studies on SPG11 patients' fibroblasts, post-mortem brains, and mouse models revealed endolysosomal system dysfunction and lipid accumulation, especially gangliosides. We report a patient with early clinical findings mimicking a GM2-gangliosidosis.METHODS:A clinical, biochemical, and metabolic characterization was performed. Electron microscopy analysis was completed on rectal mucosa and skin biopsy specimens. A NGS panel of genes associated to neuronal ceroid lipofuscinosis and HSP was analyzed.RESULTS:The patient presented with worsening walking difficulty and psychomotor slowdown since childhood; to exclude a neurometabolic storage disease, skin and rectal biopsies were performed: enteric neurons showed lipofuscin-like intracellular inclusions, thus suggesting a possible GM2-gangliosidosis. However, further analysis did not allow to confirm such hypothesis. In adulthood we detected flaccid paraplegia, nystagmus, axonal motor neuropathy, carpus callosum atrophy, and colon atony. Surprisingly, the NGS panel detected two already reported SPG11 mutations in compound heterozygosity.CONCLUSIONS:We describe for the first time pathological hallmarks of SPG11 in enteric neuron from a rectal mucosa biopsy. The report illustrates the possible overlap between SPG11 and GM2-gangliosidosis, especially in the first disease phases and helps to improve our knowledge about SPG11 physiopathology.

The aim of the study was to check the risk factors for subjects with motor conduction velocity (MCV) reduction of the ulnar nerve across the elbow without symptoms/signs of ulnar neuropathy at the elbow (UNE) using a database of a previous multicenter case–control study on UNE patients. From the previous database, we extracted all asymptomatic UNE (A-UNE) and matched for age and sex with a control and UNE groups with a ratio of 1:2. Anthropometric factors were measured and all participants filled in a questionnaire on demographic, lifestyle factors, and medical history. One-sample proportion test and univariate and multivariate logistic regression analyses were performed. We enrolled 64 A-UNE, 124 UNE, and 124 controls (mean age 53 years). There were more males with A-UNE than females (74.2%). The predominantly or exclusively concerned side of A-UNE was the right. Logistic regression showed that A-UNE was associated with diabetes (OR = 2.99, 95% CI = 1.21–7.39) and width of cubital groove (CGW) (OR = 0.89, 95%  CI = 0.81–0.97). Risk factors for A-UNE are different from UNE. The prevalence of right side in A-UNE was not due to particular elbow postures. Diabetes is a risk factor, probably because MCV reduction of the ulnar nerve across the elbow was an early manifestation of asymptomatic polyneuropathy in diabetes. A-UNE is associated with narrow CGW as already demonstrated in UNE, even if the OR was higher in UNE than in A-UNE. Only future longitudinal studies will be able to check whether the A-UNE subjects develop symptoms and signs of true mononeuropathy with time.

Objective The aim of the study was to evaluate the clinical and electrodiagnostic testing in ulnar neuropathy at the elbow and differences according to site (humeroulnar arcade vs. retroepicondylar groove) and injury physiopathology (axonal vs. demyelinating), through prospective multicenter case-control study. Design Cases and controls were matched by age and sex. Ulnar neuropathy at the elbow diagnosis was made on symptoms. Statistical analysis was performed using Mann-Whitney, χ 2 , and analysis of variance tests. Results One hundred forty-four cases and 144 controls were enrolled. Sensory loss in the fifth finger had the highest sensitivity (70.8%) compared with clinical findings. Motor conduction velocity across elbow reached the highest sensitivity (84.7%) in localizing ulnar neuropathy at the elbow recording from at least one of the two hand muscles (first dorsal interosseous and abductor digiti minimi). Abnormal sensory action potential amplitude from the fifth finger occurred more frequently in axonal than in demyelinating forms. Differences between retroepicondylar groove and humeroulnar arcade regarded conduction block and job type. Conclusions Clinical findings have less usefulness than electrodiagnostic testing in ulnar neuropathy at the elbow diagnosis. Motor conduction velocity across elbow recorded from both abductor digiti minimi and first dorsal interosseous increases diagnostic accuracy. Axonal forms have greater clinical and electrodiagnostic testing severity than demyelinating forms, which are more frequent in retroepicondylar groove. Manual workers prevailed in humeroulnar arcade. These findings may be helpful in prognostic and therapeutic approaches.

"Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(3-4), pp. 312–313

We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients overcame the early post-operative period and tolerated immunosuppressive therapy. Plasma nucleoside levels dramatically decreased, with evidence of clinical improvement of ambulation and neuropathy. Conversely, other features of MNGIE, as gastrointestinal dysmotility, low weight, ophthalmoparesis, and leukoencephalopathy were essentially unchanged. A similar picture characterized two patients treated with allogenic hematopoietic stem cell transplantation (AHSCT). In conclusion, LT promptly and stably normalizes nucleoside imbalance in MNGIE, stabilizing or improving some clinical parameters with marginal periprocedural mortality rate as compared to AHSCT. Nevertheless, restoring thymidine phosphorylase (TP) activity, achieved by both LT and AHSCT, does not allow a full clinical recovery, probably due to consolidated cellular damage and/or incomplete enzymatic tissue replacement.

We performed a prospective multicenter case-control study to explore the association between ulnar neuropathy at elbow (UNE) and body and elbow anthropometric measures, demographic and lifestyle factors, and comorbidities. Cases and controls were consecutively enrolled among subjects admitted to four electromyography labs. UNE diagnosis was made on clinical and neurographic findings. The control group included all other subjects without signs/symptoms of ulnar neuropathy and with normal ulnar nerve neurography. Anthropometric measurements included weight, height, waist, hip circumferences, and external measures of elbow using a caliper. The participants filled in a self-administered questionnaire on personal characteristics, lifestyle factors, and medical history. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) by fitting unconditional logistic regression models adjusted by center and education level. We enrolled 220 cases (males 61.8%; mean age 51.7 years) and 460 controls (47.4% males; mean age 47.8 years). At multivariable analysis, UNE was associated to male gender (OR = 2.4, 95%CI = 1.6-3.7), smoking habits (>25 pack-years (OR = 2.3, 95%CI = 1.3-4.1), body mass index (OR = 1.05, 95%CI 1.01-1.10), polyneuropathies (OR = 4.1, 95%CI 1.5-11.5), and leaning with flexed elbow on a table/desk (OR = 1.5, 95%CI 1.0-2.2). Cubital groove width (CGW) turned out to be negatively associated with UNE (OR = 0.80, 95%CI = 0.74-0.85). Our study suggests that some personal factors especially anthropometric measures of the elbow may play a role in UNE pathogenesis as the measures of wrist in CTS. We demonstrated that for each millimeter of smaller CGW the risk of idiopathic UNE increases of 25%.

Introduction: There are no studies on elbow anthropometry in ulnar neuropathy at the elbow (UNE). We aimed to test the interrater agreement of external elbow measurements with caliper, the matching of external width of cubital groove (WCG) measures with those obtained through conventional radiography (XR) and ultrasonography (US). The final aim was to evaluate the differences of anthropometric elbow and body measures between UNE cases and controls with multicenter prospective study. Materials and methods: After common training of five observers for external elbow and body anthropometric measurements, we assessed the interrater agreement of measures in a single blind measurement session in 16 healthy volunteers. Then we verified if external WCG measures in eight and four of the above 16 subjects matched with those obtained with US and XR. Finally, we enrolled 40 consecutive idiopathic UNE cases in four electromyographic labs matched for sex and age with 40 controls to evaluate the differences of anthropometric measures. Results: There was high interrater agreement of all anthropometric body and elbow measures (Kendal's and interclass correlation coefficients between 0.84 and >0.9). We found high relations between WCG caliper measures and those obtained with US and XR (r > 0.9). WCG was smaller in cases than in controls (13.2 vs.15.7 mm, p < 0.001). There were no differences in body anthropometric measures (BMI and waist-to-hip ratio). Conclusion: The external measurement of WCG is reliable and reproducible and may be risk factor of UNE. Future studies should be performed in lager samples evaluating the relations with lifestyle and occupational factors.

Context: Radiation-induced lumbosacral plexopathy is still under-recognized although its symptomatology can really lower the quality of life and impair self-sufficient functions of patients often cured of cancer. Objectives: This review aimed to depict radiation-induced lumbosacral plexopathy through a systematic review of the available literature and discuss various aspects of the clinical management of this pathology. Data Sources: We searched for all English medical papers registered in Web of Knowledge, PubMed, Google Scholar, and ScienceDirect from January 1990 to November 2018. Study Selection: From among all articles concerning radiotherapy and lumbosacral plexopathy, we included papers that dealt with human samples and excluded non-human samples and case reports. Results: Out of 1,312 articles, we selected 42 articles of which 21 met the eligibility criteria and were included in the present analysis. Five papers were general reviews, three focused on the diagnosis of disease, three analyzed the role of different therapies, and the remaining 10 articles concerned the methodology of radiation therapy. Conclusion: In the next future, we must analyze the dosimetry parameters and the clinical parameters, with appropriate follow-up times, thus providing sufficient data to use for developing organ sparing strategies tailored to individual patients. Therefore, we can reduce this type of side effects that have a huge impact on the quality of life of patients.

OBJECTIVE: To compare saccadic eye movement profile in two patients affected by Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE), the first treated with Allogeneic hematopoietic stem cell transplantation (HSCT), which restored the enzymatic function (P1), the second fully affected (P2). BACKGROUND: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is an autosomal recessive disease with multiple deletions and depletion of mitochondrial DNA in skeletal muscle, clinically characterized by external ophthalmoplegia, gastrointestinal dysmotility, cachexia, peripheral neuropathy, myopathy and leukoencephalopathy. HSCT may restore enzymatic levels improving the clinical outcome. DESIGN/METHODS: Horizontal visually guided saccades and voluntary saccades were recorded at 10° and 18° of eccentricity. Saccadic parameters were evaluated and compared with EVAlab’s normative data. RESULTS: Both patients showed slow and hypometric saccades with a significant reduction (p <0.001) of peak velocity. In addition we found different behavior in adduction than abduction, faster adducting than abducting saccades in P2 (peak velocity 18° : 240±84°/s adducting vs 197±61°/s abducting) (p<0.001).Conversely P1 showed faster abducting than adducting saccades (peak velocity at 10° was 219±42°/s adducting vs 255±48°/s abducting (p<0.001), at 18°: 271±45°/s adducting vs 370± 51°/s abducting) (p<0.005). CONCLUSIONS: The difference in eye movement characteristics, possibly related to the different response to fatigue, among treated and untreated subjects, have been discussed taking into consideration the anatomical peculiarities of extraocular muscles and their diverse dependence to mitochondrial metabolism.We suggest that the evaluation of adducting and abducting saccades (even clinically) in this and probably in other mitochondrial diseases, may add information on the severity of the disease or its response to treatment. Study Supported by: EC FP7-PEOPLE-IRSES-CERVISO 269263 Disclosure: Dr. Vinciguerra has nothing to disclose. Dr. Federighi has nothing to disclose. Dr. Rosini has nothing to disclose. Dr. Pretegiani has nothing to disclose. Dr. Cardaioli has nothing to disclose. Dr. Dotti has nothing to disclose. Dr. Sicurelli has nothing to disclose. Dr. Federico has nothing to disclose. Dr. Rufa has nothing to disclose.

•Describe the difference in eye movement characteristics in MNGIE.•Discuss about the extraocular muscles dependence to mitochondrial metabolism.•Analysis of saccades as a clinical tool for evaluating the muscular damage.

Study aim. - This prospective study aim to examine whether clinical findings and electrodiagnostic testing (EDX) in patients with lumbosacral monoradiculopathy due to herniated disc (HD) differ as a function of root involvement level (L5 vs. S1) and HD zone (paramedian vs. intraforaminal).Patients and methods. - All patients with L4, L5 or Si monoradiculopathy were prospectively enrolled at four electromyography (EMG) labs over a 2-year period. The diagnosis was based on a congruence between patient history and MRI evidence of HD. We compared the sensitivities of clinical findings and EDX with respect to both root involvement level and HD zone. Multivariate logistic regression was performed in order to verify the association between abnormal EMG, clinical, and neuroradiological findings.Results. - One hundred and eight patients (mean age 47.7 years, 55% men) were consecutively enrolled. Sensory loss in the painful dermatonne was the most frequent finding at physical examination (56% of cases). EMG was abnormal in at least one muscle supplied by femoral and sciatic nerves in 45 cases (42%). Inclusion of paraspinal muscles increased sensitivity to only 49% and that of proximal muscles was useless. Motor and sensory neurography was seldom abnormal. The most frequent motor neurographic abnormalities were a delay of F-wave minimum latency and decrease in the compound muscle action potential amplitude from extensor digitorum brevis and abductor hallucis in L5 and S1 radiculopathies, respectively. Sensory neurography was usually normal, the amplitude of sensory nerve action potential was seldom reduced when HD injured dorsal root ganglion or postganglionic root fibres. Multivariate logistic regression analysis showed that EMG abnormalities could be predicted by myotomal muscular weakness, abnormal deep reflexes, and paraesthesiae. The only clinical and electrophysiological differences with respect to root involvement level concerned deep reflexes and motor neurography of deep peroneal and tibial nerves.Conclusions. - Only some EDX parameters are helpful for the diagnosis of lumbosacral radiculopathy. EMG was abnormal in less than 50% of cases and its abnormalities could be predicted by some clinical findings. However, neurography is useful as a tool for differential diagnosis between radiculopathy and more diffuse disorders of the peripheral nervous system (polyneuropathy, plexopathy). (C) 2013 Elsevier Masson SAS. All rights reserved.

Objective: Normal sensory nerve action potential (SNAP) amplitude is a classical neurographic rule whether damage is located proximal to the dorsal root ganglion (DRG) as in radiculopathy. The study's aim is to check SNAP reduction in patients with lumbosacral radiculopathy due to herniated disc (HD).Methods: A total of 108 consecutive patients with lumbosacral monoradiculopathy were prospectively enrolled. The diagnosis was based on clinical findings and magnetic resonance imaging (MRI). Electromyography of muscles of L4-S1 myotomes, motor neurography of peroneal and tibial nerves and sensory neurography of saphenous, superficial peroneal and sural nerves were performed. Percentage decrease in SNAP amplitude of nerves between healthy and affected sides was calculated.Results: Significant SNAP amplitude asymmetry was observed in superficial peroneal nerve in seven patients with L5 (12.1%) and in sural nerve in one patient with S1 (2.4%) radiculopathies. All these patients had foraminal HD.Conclusions: SNAP amplitude reduction of sensory nerve originating from damaged root is present only in 7% of radiculopathies and is likely due to DRG compression when located proximal to the spinal foramen or within the intraspinal canal.Significance: Preservation of SNAP amplitude in radiculopathy remains an electrophysiological dogma with a little exception. If the reduction of SNAP amplitude affects other nerves, causes other than radiculopathy should be sought. (C) 2012 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.