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We report a 57 year- old man with lateral abdominal wall bulging. MRI showed thoracic disk herniation at the T11–T12 level. Needle electomyogram disclosed acute denervation in paraspinal and abdominal muscles innervated from T11 root. Eight months later the swelling was reduced significantly. Thoracic disc herniations are rare and three similar cases have been described previously. © 2018 The Neurosurgical Foundation.

Fatigability is the hallmark of myasthenia gravis (MG). It is not clear, however, whether there is an analogous increase in jitter during the course of a single fiber electromyography (SFEMG) session. The individual jitter values of all potentials of 76 normal and 44 myasthenic orbicularis oculi muscles were assigned a rank number according to their temporal order in which they were collected and linear regression was performed to determine if the slope of the regression line was significantly different from zero. Control and MG subjects displayed rather flat linear regression lines with non-significant positive or negative slopes. Accordingly, ROC analysis yielded areas under the curve near 0.5. We conclude that there is no systematic jitter increase during the collection of 20 potential pairs in a typical SFEMG session. © 2021 - IOS Press. All rights reserved.

Considering genetic influence on brain structure and function, including motor control, we report a case of right-handed monozygotic twins with atypical organization of fine motor movement control that might imply genetic influence. Structural and functional organization of the twins' motor function was assessed using transcranial magnetic stimulation (TMS), fMRI with a motor-task paradigm, and diffusion tensor imaging (DTI) tractography. TMS revealed that both twins presented the same unexpected activation and inhibition of both motor cortices during volitional unilateral fine hand movement. The right ipsilateral corticospinal tract was weaker than the left contralateral one. The motor-task fMRI identified activation in the left primary motor cortex and bilateral secondary motor areas during right-hand (dominant) movement and activation in the bilateral primary motor cortex and secondary motor areas during left-hand movement. Based on DTI tractography, both twins showed a significantly lower streamline count (number of fibers) in the right corticospinal tract compared with a control group, which was not the case for the left corticospinal tract. Neither twin reported any difficulty in conducting fine motor movements during their activities of daily living. The combination of TMS and advanced neuroimaging techniques identified an atypical motor control organization that might be influenced by genetic factors. This combination emphasizes that activation of the unilateral uncrossed pyramidal tract represents an alternative scheme to a "failure" of building a standard pattern but may not necessarily lead to disability. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare hereditary neuropathy within the Charcot-Marie-Tooth disease (CMT) spectrum, linked to mutations in the histidine triad nucleotide-binding protein 1 (HINT1) gene. HINT1-related neuropathy is particularly common in selected populations from Central and Eastern Europe but rare in Western European cohorts. It has not been investigated to date in the Greek population. We presently investigated the frequency of HINT1-neuropathy in a selected cohort of 42 Greek index patients with autosomal recessive or sporadic axonal hereditary neuropathy according to standard molecular genetics procedures. We identified 4 patients with biallelic mutations in HINT1, comprising 9.5% of all cases and 44.4% of cases also displaying neuromyotonia. The c.110G> C (p.Arg37Pro) HINT1 mutation was present in all cases (2 homozygous) and the c.250T> C (p.Cys84Arg) in 2 cases (compound heterozygous). HINT1-related neuropathy patients were characterized by early onset and neuromyotonia. Two patients had noteworthy clinical features, one case developing myoclonic epilepsy and the other displaying “adducted thumbs.” We conclude that HINT1-related neuropathy is common in selected Greek patients with hereditary neuropathy within the CMT spectrum, in accordance with some, but not all, European populations. © 2021 Peripheral Nerve Society.

Background: Little is known about how different outlier estimation methods affect cutoff limits for outliers in single fiber electromyography. Methods: We compared in a prospective fashion the established 18th jitter value (18thjv) method to three, whole-distribution based, outlier detection methods: the interquartile range (IQR), the log-normal, and the Z-score method. The reference limits were probed in a normal cohort and in myasthenia gravis (MG) patients. Results: Differences in outlier cutoff values between the different methods were in the range of 2 μs. The number of abnormal muscles according to the computed criteria was similar for all four methods in the control group. Classification metrics (sensitivity, specificity, Youden's statistic, and predictive values) were also similar among the different methods. In the MG group, however, the Z-score method failed to identify the abnormal jitter values. Accordingly, Kappa agreement was substantial to perfect (0.658 to 1) between the three methods (18thjv, IQR, and log-normal), but was equivalent to chance between the three methods and the Z-score in the MG group. Conclusions: The established 18thjv method proved largely robust when compared to whole-distribution based methods, and its use in clinical practice is justified. Simple estimation of outlier limits by adding two SDs to the mean of the data, leads to unacceptable deviations from the true cutoff values. Moreover, in a clinical scenario in which the final electrodiagnosis depends only on the number of outliers, it is meaningful to accept a tolerance zone of about 2 μs, which is the approximate variation range among the different methods. © 2020 Wiley Periodicals LLC

Purpose: The comorbidity of myasthenia gravis (MG), with other autoimmune disorders like systemic lupus erythematosus (SLE), is relatively frequent but the co-occurrence with chronic inflammatory demyelinating polyneuropathy (CIDP) along with various autoimmune manifestations in the absence of thymoma is of extreme rarity. Our aim is to report a case of a woman who presented the concomitant appearance of MG, axonal sensory-motor polyneuropathy and hepatitis that may indicate an underlying pathogenetic link among the different autoimmune disorders. Materials and methods/results: We present a case of a 54-year-old woman, with a generalized MG and a chronic sensory-motor polyneuropathy, hypothyroidism, anaemia, hepatitis, livedo reticularis and facial flush, of assumed autoimmune background, like SLE, although with persistent negative ANA antibodies, from the beginning and through the whole following years. The Human Leukocyte Antigen (HLA)-DRB1 genotyping showed a profile of alleles (DRB1*11:01/11:04) compatible with CIDP of mainly female gender in Greece and frequencies close to those of Sjogren’s syndrome and scleroderma’s in the Greek population. The diagnostic problems, the atypical clinical, electrophysiological and immunological features are discussed, along with the rarity of the case, with this exceptional combination of autoimmune manifestations, which could be truly associated under the clinical umbrella of a systemic disease, like SLE. However, our patient did not ever fulfil the SLE criteria. Conclusions: To raise awareness among clinicians about the exceptional combination of autoimmune manifestations driven by a specific HLA background. © 2020 Informa UK Limited, trading as Taylor & Francis Group.

The association between gray matter (GM) density and neurophysiologic changes is still unclear in amyotrophic lateral sclerosis (ALS). We evaluated the relationship between GM density and motor system integrity combining voxel-based morphometry (VBM) and transcranial magnetic stimulation (TMS) in ALS. We included 17 ALS patients and 22 healthy controls (HC) who underwent 3D-T1-weighted imaging. Among the ALS group, we applied left motor cortex single-pulse TMS. We used whole-brain VBM comparing ALS and HC in GM density. We also conducted regression analysis to examine correlations between GM density and the following TMS parameters: motor evoked potential (MEP)/M ratio and central motor conduction time (CMCT). We found significantly decreased GM density in ALS patients in several frontal, temporal, parietal/occipital and cerebellar regions (p < 0.001 uncorrected; cluster-extent threshold k = 100 voxels per cluster). With regards to TMS parameters, ALS patients showed mostly increased MEP/M ratio and modest prolongation of CMCT. MEP/M ratio was associated with GM density in (a) rolandic operculum/inferior frontal gyrus/precentral gyrus; anterior cingulate gyrus; inferior temporal gyrus; superior parietal lobule; cuneus; superior occipital gyrus and cerebellum (positive association) and (b) paracentral lobule/supplementary motor area (negative association). CMCT was associated with GM density in (a) inferior frontal gyrus and middle cingulated gyrus (positive association) and (b) superior parietal lobule; cuneus and cerebellum (negative association). Our findings support a significant interaction between motor and extra-motor structural and functional changes and highlight that motor and extra-motor GM integrity may underlie TMS parameters of motor function in ALS patients. © 2018, Springer Science+Business Media, LLC, part of Springer Nature.

Background/Aim: Diagnostic accuracy of muscle biopsy and electromyography (EMG) in patients with myopathy varies widely among studies. The goal of this study was to examine the diagnostic accuracy of each method in the diagnosis of patients with suspected myopathy, and determine the level of agreement between the two methods. Patients and Methods: The files of all patients with a presumed myopathy were retrospectively reviewed. All patients with detailed muscle biopsy and EMG data were included. Results: A total of 123 patients were included. Accuracy of biopsy was 80.4% compared to 70.7% for EMG. Biopsy was sensitive and specific in all neuromuscular disorders. EMG was accurate in neurogenic disorders. Biopsy and EMG agreement was 70.7%. Conclusion: Muscle biopsy is more accurate than EMG in patients with myopathy. Muscle biopsy-EMG discordance can be attributed to different muscle sampling and to disorders with both neurogenic and myopathic features, such as acquired and mitochondrial myopathies. © 2018 Institute of Electrical and Electronics Engineers Inc. All rights reserved.

Background: The Boston Carpal Tunnel Questionnaire (BCTQ) is an easy, brief, self-administered questionnaire developed by Levine et al for the assessment of severity of symptoms and functional status of patients with carpal tunnel syndrome. The aim of our study was to develop and validate the Greek version of BCTQ. Methods: We conducted a cross-sectional study of 90 patients with idiopathic carpal tunnel syndrome. The original English version of BCTQ was adapted into Greek using forward and backward translation. Reliability was assessed by internal consistency (Cronbach α and item-total correlation) and reproducibility. Validity was examined by correlating the Boston Questionnaire scores to Canterbury severity scale for electrodiagnostic severity grading. Results: The Greek version showed high reliability (Cronbach α 0.89 for Symptom Severity Scale and 0.93 for Functional Status Scale) and construct validity (Pearson correlation coefficient 0.53 for Symptom Severity Scale and 0.68 for Functional Status Scale). Test-retest were 0.75 for Symptom Severity Scale and 0.79 for Functional Status Scale (P

The phenotypic heterogeneity in amyotrophic lateral sclerosis (ALS) implies that patients show structural changes within but also beyond the motor cortex and corticospinal tract and furthermore outside the frontal lobes, even if frank dementia is not detected. The aim of the present study was to investigate both gray matter (GM) and white matter (WM) changes in non-demented amyotrophic lateral sclerosis (ALS) patients with or without cognitive impairment (ALS-motor and ALS-plus, respectively). Nineteen ALS-motor, 31 ALS-plus and 25 healthy controls (HC) underwent 3D–T1-weighted and 30-directional diffusion-weighted imaging on a 3 T MRI scanner. Voxel-based morphometry and tract-based spatial-statistics analysis were performed to examine GM volume (GMV) changes and WM differences in fractional anisotropy (FA), axial and radial diffusivity (AD, RD, respectively). Compared to HC, ALS-motor patients showed decreased GMV in frontal and cerebellar areas and increased GMV in right supplementary motor area, while ALS-plus patients showed diffuse GMV reduction in primary motor cortex bilaterally, frontotemporal areas, cerebellum and basal ganglia. ALS-motor patients had increased GMV in left precuneus compared to ALS-plus patients. We also found decreased FA and increased RD in the corticospinal tract bilaterally, the corpus callosum and extra-motor tracts in ALS-motor patients, and decreased FA and increased AD and RD in motor and several WM tracts in ALS-plus patients, compared to HC. Multimodal neuroimaging confirms motor and extra-motor GM and WM abnormalities in non-demented cognitively-impaired ALS patients (ALS-plus) and identifies early extra-motor brain pathology in ALS patients without cognitive impairment (ALS-motor). © 2017, Springer Science+Business Media New York.

Purpose: The aim of our study was the comparison of active denervation (fibrillation and/or positive sharp wave potentials) in thoracic paraspinal muscles with rectus abdominis in patients with definite amyotrophic lateral sclerosis. Methods: Ninety-five consecutive patients with clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria were studied prospectively over a 5-year period. Concentric needle electromyogram was performed in thoracic paraspinal muscles, in the rectus abdominis at the T9 level, and in limb muscles. Results: Active denervation was present in thoracic paraspinal muscles in 75 patients (79%) and in rectus abdominis in 62 patients (65.3%) (P = 0.02). No significant difference was found between the two muscles regarding the type of onset (bulbar, upper, and lower limbs), amyotrophic lateral sclerosis functional rating scale values, and creatine phosphokinase levels. Conclusions: Thoracic paraspinal muscles are the first to be tested in patients with amyotrophic lateral sclerosis. Absence of active denervation in T-PSM is rarely associated with active denervation in rectus abdominis. Copyright © 2018 by the American Clinical Neurophysiology Society.

Aim: Determination of the 25(OH) vitamin D levels in Greek-born and in Bangladeshi immigrant patients in Greece with diabetes with and without polyneuropathy. Materials and Methods: The method for the detection and staging of polyneuropathy proposed by Dyck, 1988 was used. Results: A total of 111 Bangladeshi immigrants and 101 Greek diabetic patients took part in the study. Vitamin D levels were significantly lower in Bangladeshi than in Greek diabetic patients, and were significantly lower in Greek patients with small-fiber neuropathy. In Bangladeshi patients, there was no statistically significant difference in the subgroup of patients with polyneuropathy in comparison to those without polyneuropathy. Conclusion: The association of vitamin D deficiency only with a small number of Greek patients with exclusively small-fiber neuropathy does not allow us to draw a definite conclusion on the role of vitamin D in the pathogenesis of diabetic neuropathy.

Purpose: In chronic inflammatory demyelinating polyradiculopathy (CIDP), the impairment of unmyelinated nerve fibers appears unexpected. The measurement of the electrically induced axon flare reflex is a clinical test to assess the peripheral C-nociceptor function. In this study, we compared the flare area in patients suffering from CIDP with healthy subjects. Methods: We examined 18 patients fulfilling the criteria for CIDP (11 men, mean age 51.8 years, SD 15.1) and 18 age-matched adult healthy volunteers (control group) (11 men, mean age 51.9 years, SD 15.8). The flare responses were elicited by transcutaneous electrical stimulation and recorded by laser Doppler imaging. Results: There was a significant reduction of electrically induced maximum flare area in the foot dorsum of patients with CIDP (t-value 2.08, P = 0.04) which proved to be length-dependent measured by a numerical index comparing the results with the forearm and thigh. The repeatedmeasures ANOVA revealed statistically significant smaller flare areas in all body regions for the CIDP group (P < 0.001). Conclusions: The axon flare reaction to electrical stimulation was decreased in patients with chronic demyelinating inflammatory polyneuropathy. The evaluation of the axon flare response can be proposed as a noninvasive objective functional test to detect an impaired C-fiber function in CIDP patients with the advantages of simplicity of the procedure, time economy, and objectivity. © 2016 by the American Clinical Neurophysiology Society.

We aimed to investigate structural changes in vivo in memory-related white matter tracts (i.e., perforant pathway zone [PPZ]; uncinate fasciculus [UF]; fornix) using diffusion tensor tractography and evaluate possible associations with memory performance in nondemented patients with amyotrophic lateral sclerosis (ALS). Forty-two ALS patients and 25 healthy controls (HCs) underwent a 30-directional diffusion-weighted imaging on a 3T MR scanner, followed by tractography of PPZ, UF, and fornix and analysis of fractional anisotropy (FA), axial diffusivity and radial diffusivity (Dr). Patients were administered neuropsychological measures of verbal (list learning via Rey Auditory Verbal Learning Test [RAVLT] and prose memory via Babcock Story Recall Test) and nonverbal (Rey's Complex Figure Test) episodic memory. After correcting for multiple comparisons, ALS patients showed increased Dr in the left PPZ compared to HC. We then fitted a multivariate general linear model within ALS patients with neuropsychological measures as dependent variables and age, age2, gender, verbal IQ, and diffusion tensor tractography metrics with at least medium effect size differences between ALS and HC as independent variables. We found that (1) left PPZ FA, gender, and verbal IQ contributed to RAVLT-Total Learning; (2) left PPZ FA, left UF Dr, and gender contributed to RAVLT-Immediate Recall; and (3) left PPZ FA and left UF axial diffusivity contributed to Babcock Story Recall Test-Immediate and Delayed Recall. Advanced neuroimaging techniques verified in this study previously reported neuropathological findings regarding PPZ degeneration in ALS. We also detected a unique contribution of microstructural changes in hippocampal and frontotemporal white matter tracts on patients' memory profile. © 2016 Elsevier Inc.

Purpose/aim of the study: An increased serum level of creatine kinase (CK) in asymptomatic individuals is a diagnostic challenge, as it may be associated with either physiological conditions, such as exercise or even signal an ominous neuromuscular disease at a presymptomatic stage. The electromyogram (EMG) and the muscle biopsy play a key role in the evaluation of asymptomatic hyperckemia. The objective of this study was to investigate asymptomatic individuals with increased CK levels. Materials and methods: We comparatively studied EMG, quantitative EMG and muscle biopsy in asymptomatic clinically normal individuals with repeatedly increased CK levels. Results: Conventional EMG was abnormal in 76% of patients, while quantitative EMG showed abnormal results in 88.9%. Muscle biopsy was diagnostic in 28%, one patient had neurogenic findings, 40% showed non-specific changes and 28% had normal results. Conclusions: EMG and especially quantitative EMG are highly sensitive in detecting subclinical neuromuscular diseases, whereas muscle biopsy may better contribute in the final diagnosis. No strong correlations were found between histological abnormalities and electrophysiological data, but further research is needed. Copyright © 2015 Taylor & Francis.

Objectives: To evaluate the occurrence of Ulnar neuropathy at the elbow (UNE) among alcohol dependent subjects. Method: The study sample comprised 99 consecutive alcohol dependent subjects treated for detoxification voluntarily in the specialized unit of the Athens University Psychiatric Clinic in an inpatient basis. Results: UNE was found in 51 subjects (51.5%): in 40.4% on the right side, in 44.6% on the left and in 20.1% on both. Polyneuropathy was diagnosed in 41.4% of the total sample. Statistical analysis showed UNE significantly associated with age of the subjects, age at alcohol dependence onset and duration of alcohol dependence. Was more frequent in men and the probability of UNE was lower in obese subjects. Conclusions: UNE is frequent among alcohol dependent subjects and they must be instructed to avoid abnormal postures and to protect their elbow while working with the elbows flexed and resting on a hard object. © 2016 Wolters Kluwer Health, Inc. All rights reserved.

The aim of this study was the diagnosis of patients with isolated ocular manifestations (ptosis and/or diplopia) referred for electrophysiological evaluation to the electrodiagnostic laboratory of a University Neurological Department. Examination was performed either in inpatient status or in outpatient basis. We analyzed the clinical, electrophysiological and other laboratory data in 79 subjects. Myasthenia gravis (MG) was diagnosed in 38 %, 45.6 % in other diseases (Graves disease, blepharospasm, IIId cranial verve palsy, multiple sclerosis, stroke, etc.), while in 16.5 %, the cause remained unidentified. Symptoms fluctuation was significantly more frequent in the myasthenic patients, compared to patients with other diseases. The presence of both diplopia and ptosis are more likely due to MG rather than other pathology. © 2015, Belgian Neurological Society.

The aim of this study was to compare Bangladeshi immigrants with diabetes to native Greeks with diabetes and to distinguish the different risk factors for polyneuropathy (PN) in the two ethnic groups. Subjects were recruited from the outpatient diabetic clinic of a general hospital. A total of 111 Bangladeshi immigrants (97 men and 14 women of mean age 47 years) and 101 native Greeks (82 men and 19 women of mean age 49 years) were included in the study. Sex, mean age, age at diabetes diagnosis, and diabetes duration did not differ between the two groups. PN was diagnosed in 53 (48%) Bangladeshi and in 59 (58%) Greek patients (p = 0.12). Large fiber neuropathy was less prevalent among Bangladeshis (18%) than in Greeks (53%) (p < 0.01). Small fiber neuropathy on the contrary were more frequent in Bangladeshis (18% vs. 7%) (p < 0.02). Regarding the risk factors for PN, Greek patients were taller, with higher BMI, and smoked more cigarettes (p < 0.001). They were also treated with more anti-lipid and antihypertensive agents. The higher percentage of SFN in Bangladeshi was mainly a result of the significantly greater incidence of erectile dysfunction (ED) in their group (68 Bangladeshi vs. 38 Greek men). It is well known that there are many causes of ED aside from SFN which were not evaluated in this study. Thus this conclusion should be taken with caution. © 2015 Peripheral Nerve Society.

Owing to the variety of its clinical presentations, amyotrophic lateral sclerosis (ALS) may mimic several neurological syndromes and even lead to inappropriate surgical procedures. We wished to assess the impact of unnecessary surgical treatments among ALS patients, and therefore we retrospectively reviewed medical records of 164 consecutive ALS patients. We collected data on the clinical presentation of ALS at onset, the initial symptom that led the patients to seek medical care, the timing of diagnosis and surgical procedures attributed to the onset of symptoms. Results showed that among 164 consecutive patients with ALS, 13 (7.9%) were surgically treated as a consequence of false diagnosis. Despite this, these patients showed no statistically significant difference in time of diagnosis compared to non-operated patients. In conclusion, a small but not negligible number of ALS patients are misdiagnosed. The diagnostic pathway of these patients includes often specialists other than neurologists who should be more aware of this disease in order to avoid inappropriate surgical treatments and provide the patients the appropriate diagnostic and therapeutic procedure by referring them promptly to a neurologist. © 2014 Informa Healthcare.

Introduction: A simple test to evaluate the peripheral C-fiber function is the measurement of axon reflex flare area. In this study, we compared the flare area in healthy subjects and in two groups of patients with predominantly axonal or demyelinating polyneuropathy. Materials and Methods: We examined 42 control subjects and 33 patients. The flare responses were elicited by the application of transcutaneous electrical stimulation and recorded by laser Doppler imaging. Results: There was a significant reduction of electrically induced flare area in both groups of neuropathy patients (P < 0.001; analysis of covariance). Interestingly, patients with an axonal neuropathy had a significantly stronger reduction of flare size as compared to patients with demyelinating neuropathy (P = 0.03). Conclusions: The evaluation of the axon flare response in the arm can be used as a screening test of impaired C-fiber function in polyneuropathy patients with the advantages of simplicity of the procedure and time economy. © 2013 by the American Clinical Neurophysiology Society.

Introduction: This study aimed to obtain normal MUAP values in 2 facial muscles and to compare the results of different analysis methods. Methods: The frontalis muscle of 36 and the mentalis muscle of 28 normal subjects were examined, and mean and outlier values of all MUAP parameters were calculated with the automatic method. Next, manual editing of the recorded raw data provided new sets of values for comparison. Results: The frontalis muscle MUAPs have significantly shorter duration, smaller amplitude and a lower number of turns and phases compared with those of mentalis. Higher MUAP duration values in the frontalis were the only significant difference after the comparison of the different analysis methods. Conclusions: The set of normal values for frontalis and mentalis in this study could be useful in routine practice. Careful manual editing of the frontalis MUAPs is recommended for more accurate determination of their duration. © 2012 Wiley Periodicals, Inc.

Aim: To assess the utility of repetitive nerve stimulation (RNS) in facial and hypothenar muscles in the clinical groups of myasthenia gravis (MG). Patients and Methods: We performed RNS study in the orbicularis oculi (O.O.), nasalis and abductor digiti quinti (ADQ) in 115 consecutive myasthenic patients and classified them according to the classifications of the Myasthenia Gravis Foundation of America. Patients were classified into three groups: group 1, group 2 (IIa, IIIa and IVa) and group 3 (IIb, IIIb and IVb). Results: RNS was abnormal in 95 patients (82.6%): 78.3% in the O.O., 66.1% in the nasalis and 19.1% in the ADQ. Both facial muscles were statistically more sensitive than the ADQ in all groups of patients. RNS in the O.O. was more frequently abnormal than in the nasalis only in group 1. Sensitivity to acetylcholine antibodies in myasthenic patients was 84%. Acetylcholine receptor (AChR) and muscle-specific tyrosine kinase antibodies were present in 96.7% of the patients with abnormal RNS in both facial muscles. Single-fiber electromyogram (SFEMG) was abnormal in 91.3% of the tested patients. One of the three tests used for the diagnosis of MG (AChR antibodies, SFEMG, RNS) was abnormal in 99.1% of the patients. Discussion: O.O. is the most sensitive muscle in all groups of MG followed by nasalis, while the ADQ is the muscle with the lowest sensitivity. Facial muscles, especially the O.O., should be the first to be tested in MG. The negativity of all tests (RNS, AChR antibodies, SFEMG) should question the diagnosis of MG, even in the presence of symptoms consistent with MG. Copyright © 2011 S. Karger AG, Basel.

The purpose of this study was to assess turns/amplitude analysis (TAA) as an objective alternative to conventional qualitative electromyography (EMG) for detection of myopathy in facial muscles. Normal values of TAA parameters were calculated in the frontalis and mentalis muscles of 26 control subjects. We estimated the slope of the regression line of mean amplitude/turn values (MA) plotted against the number of turns/second (NT) and the resulting clouds. The 95% confidence limits of the cloud data were drawn as an ellipse. The sensitivity of TAA was determined from a group of 35 myopathic patients and specificity from a second group of 25 control subjects. Significant differences for every TAA parameter were found between frontalis and mentalis. Cumulative sensitivity and specificity of TAA for frontalis and mentalis were 74.6%, 56.5%, and 73.3%, 70.8%, respectively. With at least two of the aforementioned criteria abnormal, the sensitivity and specificity for frontalis and mentalis were 61.3%, 82.6%, and 56.7%, 100.0%, respectively. © 2010 Wiley Periodicals, Inc.

Background and Purpose The potential association between the severity of autonomic dysfunction and peripheral neuropathy has not been extensively investigated, with the few studies yielding inconsistent results. We evaluated the relationship between autonomic dysfunction and peripheral neuropathy in chronic hemodialysis patients in a cross-sectional study. Methods Cardiovascular autonomic function was assessed in 42 consecutive patients with chronic renal failure treated by hemodialysis, using a standardized battery of 5 cardiovascular reflex tests. Symptoms of autonomic dysfunction and of peripheral neuropathy were evaluated using the Autonomic Neuropathy Symptom Score (ANSS) and the Neuropathy Symptoms Score. Neurological deficits were assessed using the Neuropathy Disability Score. Conduction velocities along the sensory and motor fibers of the sural and peroneal nerves were measured. Thermal thresholds were documented using a standardized psychophysical technique. Results Parasympathetic and sympathetic dysfunction was prevalent in 50% and 28% of cases, respectively. Peripheral neuropathy was identified in 25 cases (60%). The prevalence of peripheral neuropathy did not differ between patients with impaired (55%) and normal (75%) autonomic function (p=0.297; Fisher's exact test). The electrophysiological parameters for peripheral nerve function, neuropathic symptoms, abnormal thermal thresholds, age, gender, and duration of dialysis did not differ significantly between patients with and without autonomic dysfunction. Patients with autonomic dysfunction were more likely to have an abnormal ANSS (p=0.048). The severity of autonomic dysfunction on electrophysiological testing was positively correlated with ANSS (r=0.213, p=0.036). Conclusions The present data indicate that although cardiovascular autonomic dysfunction is prevalent among patients with chronic renal failure, it is not associated with the incidence of peripheral neuropathy. © 2010 Korean Neurological Association.

Objectives: Mirror movements (MMs) are unintended and unnecessary movements accompanying voluntary activity in homologous muscles on the opposite side of the body, particularly in distal arm muscles. Congenital MMs may be sporadic or familial. Several mechanisms have been proposed to explain persistent congenital MMs. Hypothesis 1 assumes the existence of an ipsilateral corticospinal pathway, and Hypothesis 2 the activation of both motor cortices. We report a new case of congenital mirror movements in a healthy woman. Methods: Electromyographic recordings and focal transcranial magnetic stimulation (TMS) were used for neurophysiological evaluation. Results: Voluntary contraction of either abductor pollicis brevis (APB) elicited mirror activation of the other APB. Focal TMS of either M1 elicited motor evoked potential (MEP) of normal latency and amplitude in both resting APB. TMS of the left cortex upon maximal contraction of the right APB and mirror contraction of the left APB produced interhemispheric inhibition (IHI) in the former and silent period (SP) in the later. Conclusions: The electrophysiological evaluation using transcranial magnetic stimulation provides evidence of the concurrent action of both mechanisms in this patient. Significance: The combination of more than one hypothesis could be more appropriate for understanding the underlying mechanism in some MM cases. © 2010 Elsevier B.V. All rights reserved.

Aims of the study: To detect amplitude differences between the sensory nerve action potentials (SNAP) obtained by simultaneous recording of the two main branches of the superficial peroneal sensory nerve (SPSN), the medial and intermediate dorsal cutaneous sensory nerves (MDCN, IDCN); to investigate whether these differences, if any, are correlated with gender, age, body mass index (BMI), and height of normal subjects; to discuss their clinical significance. Population and methods: Seventy-six healthy volunteers (36 males) were included (mean age: 36.5 years, range 20-80). Simultaneous MCND and IDCN recordings were performed via surface electrodes placed at precise positions on the intermalleolus line. Stimulation was performed 14 cm proximally on two different sites over the anterolateral aspect of the right leg. Results: Responses were obtained for both nerve branches in all subjects. Median value and lower normal limit for the amplitude of the greater among both MDCN and IDCN responses was 10.95 μV and 4.9 μV, respectively. Statistically significant differences were found between the two branches in median amplitude and frequency of the greater value. These differences were not correlated with gender, age, BMI, or height. Conclusion: We propose simultaneous recording of the two main branches of the superficial peroneal sensory nerve, placing the recording electrodes and stimulation device on precise positions and measuring the amplitude of the best of both responses. This method is an improvement of an already existent one, and may be clinically useful in detecting abnormal responses of the SPSN. © 2009.

Limb hypoplasia is a rare congenital disorder. Is usually encountered in patients with segmental spinal dysplasia (SSD), in progressive facial hemiatrophy (Parry-Romberg syndrome) and in other rare conditions. We performed an extensive electrophysiological study in a 18-year-old female with congenital left lower limb hypoplasia, but with no motor and sensory deficit. Electrophysiological investigation comprised motor and sensory nerve conduction velocities, needle EMG, quantitative sensory studies and SEP with standard techniques. The study showed markedly involved large diameter peripheral sensory nerve fibers and intact motor and small diameter peripheral sensory nerve fibers. Extensive electrophysiological investigation in cases of limb hypoplasia has not been previously performed. In this patient congentital hypoplasia of the muscles also involved the peripheral large diameter sensory nerve fibers. © Springer-Verlag Italia 2008.

Background: Peroneal nerve is susceptible to injuries due to its anatomical course. Excessive weight loss, which reduces the fatty cushion protecting the nerve, is considered a common underlying cause of peroneal palsy. Other predisposing factors, such as prolonged postures, traumas of the region or concomitant pathologies (for example diabetes mellitus) contribute to the nerve damage. This study aims to reveal the multiple predisposing factors of peroneal nerve mononeuropathy after substantial weight loss that coexist in psychiatric patients and to make suggestions on their management. Methods: Nine psychiatric inpatients, major depressive or schizophrenic, with foot drop underwent a complete clinical neurological and neurophysiological examination. All had excessive weight loss, which was completed in a short period of time and had not resulted from a well-balanced low-calorie diet, but was due to their psychiatric illness. Data regarding predisposing factors to peroneal nerve mononeuropathy were gathered, such as habitual leg crossing, squatting or other prolonged postures. Results: The clinical examination and the neurophysiological evaluation in all patients were indicative of a focal lesion of the peroneal nerve at the fibular head. Conclusion: Patients with major depressive and schizophrenic disorders gather multiple predisposing factors to peroneal palsy, adequate to classify them at a high risk group. The better focus of the attendant medical and nursing staff on this condition, the early clinical and neurophysiologic evaluation and surgical interventions may enable an improved management and prognosis of these patients. © 2008 Papagianni et al; licensee BioMed Central Ltd.

The pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) remains unknown. Neurophysiological studies provide evidence of hyperexcitability of the motor cortex or of impairment of inhibitory intrahemispheric modulation of the corticomotoneuron in ALS. In this paper, we used TMS to elicit transcallosal inhibition of the motor cortex in ALS patients in order to investigate whether interhemispheric inhibitory mechanisms subserved by callosal fibres are also disturbed in ALS. Twenty-five patients with ALS and 18 controls were recruited for the study. Resting Motor Threshold (RMT), Silent Period (SP) and interhemispheric inhibition (IHI) were recorded. No significant difference was detected regarding RMT or the duration of SP between patients and controls. IHI was detected in all controls. IHI was totally absent in eight patients, in another eight patients IHI did not reach a significant level and in the remaining nine patients was normal. The degree of IHI was significantly lower in ALS patients than in controls (p = 0.001). In conclusion, altered IHI in ALS patients is in line with the general pattern of reduced corticomotoneuron inhibition, being thus, one of the factors which may lead to chronic overexcitation of pyramidal cells.

Objective: To explore the presence and grade of denervation in three mimic muscles in facial nerve palsy. Methods: The frontalis, orbicularis oculi (OO), and mentalis muscles were explored in 54 patients with Bell's palsy, after 30 days from the beginning of symptoms. Concentric needle electromyography, including fibrillation detection, was performed in the three muscles on the affected side. Compound muscle action potentials (CMAP) were recorded on both sides and a CMAP ratio was calculated from each muscle. The House-Brackman scale was used to assess the initial clinical evaluation and the follow-up until recovery. Results: Fibrillation was recorded in 32 patients on the 30th day after the onset and was present in 100% of mentalis and in 90% of frontalis, but in only 34% of OO, a statistically significant difference. The grade of fibrillation in OO was also statistically lower from those in the other two muscles. The 32 patients were grouped according to the presence (A) or not (B) of fibrillation in OO. In group A, CMAP ratios (affected/normal side) did not differ significantly among the three muscles. However, in group B they were significantly greater in OO and frontalis than in mentalis. In between-group comparison, group B muscles had significantly higher CMAP ratios, lower degree of fibrillation, and better functional recovery. Conclusion: In facial palsy, the presence and grade of fibrillation in OO are lower than in frontalis and mentalis muscles and prognosis is more favorable for the non-fibrillating OO group of patients. © 2006.

The developmental status of muscle fibers was investigated in three cases of myotubular myopathy: one infant with the X-linked recessive form and two adult brothers with the autosomal, probably recessive, form of the disease. The presence of the developmentally regulated proteins desmin, vimentin and dystrophin was investigated by immunocytochemistry with the use of monoclonal antibodies. In the X-linked case, intense immunolabelling for vimentin and desmin was observed in the nuclear area of a great number of muscle fibers, while a few others showed sarcoplasmic dystrophin immunolabelling or were dystrophin-negative. In the adult cases, strong desmin immunoreactivity was observed, but only a few fibers labelled for vimentin. Dystrophin sarcolemmal immunolabelling was normal, but in some fibers dystrophin was observed in the area of the central nucleus. These findings are supportive of a maturational arrest of muscle fibers in the X-linked cases and possibly indicative of a similar mechanism in the adult form of centronuclear myopathy in these patients. © 2006 Elsevier GmbH. All rights reserved.

Objective: To describe a case of limbic encephalitis which initially presented as viral limbic encephalitis and during the clinical evaluation a renal carcinoma was diagnosed. Case report: Patient with history of peripheral paresis of right facial nerve, 1 month after symptoms appearance and treatment, developed fever, vomiting, grand mal seizure, decreased level of consciousness, confusion, hallucinations and agitation. The patient initially presented a clinical picture of viral LE. which confirmed by CSF. MRI brain showed areas with pathological intensity signal in the region of limbic system unilateral. During the clinical evaluation a renal carcinoma was discovered and a nephrectomy has been performed. Conclusions: Although PLE typically presents as a chronic or subacute disease, it may be fulminant and clinically indistinguishable from an acute HSVE. This association pose the problem of a possible relation between this two syndromes and the correct diagnosis is very important, because there are effective treatments. © Springer 2005.

The aim of the present study was to evaluate the occurrence of large and small fiber neuropathy among alcohol-dependent subjects and to correlate neuropathy with the pattern of alcohol abuse, age of the subjects, nutritional status, and biochemical parameters. The study sample comprised 98 consecutive alcohol-dependent subjects without signs of malnutrition treated for detoxification voluntarily in the specialized unit of the Athens University Psychiatric Clinic in an inpatient basis. Polyneuropathy (PN) was graded using the neuropathy symptoms score and neurologic disability score, conduction velocity studies, and quantitative sensory tests. Seventy-seven men and 21 women aged 27-70 years took part in the study. PN was diagnosed in 57 subjects (58.2%). PN of both large and small fibers was found in 25 patients (25.5%); exclusively small fiber neuropathy was observed in 12 (12.2%) and exclusively large fiber neuropathy in 20 patients (20.4%). Neuropathy was significantly correlated with the age of the subjects, duration of alcohol abuse, liver dysfunction, macrocytosis, and blood sugar levels upon admission. PN was significantly more frequent in males than in females. The two groups of exclusively large and exclusively small fiber neuropathy did not differ significantly in any clinical and laboratory parameter. Subclinical neuropathy (stage 1) was observed in 11.2%, which also did not differ significantly in any clinical and laboratory parameter from the stage 2 PN group subjects. Our findings indicate the direct toxic effect of alcohol on peripheral nerve fibers as the main etiologic factor of alcoholic PN. Long-standing hyperglycemia may be another contributing factor. Impaired vitamin B12 utilization may be also involved. © 2005 Peripheral Nerve Society.

Rickettsia conorii is endemic in the Mediterranean region. Infections are mostly benign and neurological involvement is unusual. We describe a case of a man who presented with acute facial nerve palsy followed by flaccid tetraparesis due to an electrophysiologically established polyneuritis with distal conduction failure. Elevated IgM antibody titres for R. conorii were documented by indirect immunofluorescent antibody test. After doxycycline therapy, the patient presented a rapid clinical improvement. Repeated electrophysiological examinations revealed significantly restored compound muscles, and sensory action potentials, corresponding to the clinical course after treatment and ex juvantibus, indicate the causative relation between R. conorii infection and the described clinical syndrome. (c) 2005 Elsevier B.V. All rights reserved.

To assess the rate of fibrillation and/or positive sharp waves (FPSW) in the paraspinal muscles (PM) of patients with chronic lumbosacral radiculopathy, PM and leg muscles of 179 patients, 1 1 1 men and 68 women, aged 24-68 years (mean 49.0 ± 9.3), were tested. Illness duration ranged from 8 months to 40 years (9.4 ± 7.5 years). FPSW were detected in 38 patients (21.2%). In 28 of them (15.6%), FPSW were present in the limb muscles only, in eight (4.5%) in both PM and limb muscles, and in two (1.1%) solely in the PM. FPSW were accompanied in all the above patients by chronic neurogenic changes of motor unit potentials. Logistic regression analysis did not show any significant difference between: (i) the patients with and without fibrillations in leg and/or PM muscles, and (ii) between those with FPSW in both the PM and leg muscles and those with FPSW in the leg muscles only, when the effect of age and duration of illness were considered. These suggest that the paucity of FPSW in the PM is rather genuine and does not depend on the timing of the examination, in consequence, PM electromyography seems to be not as valuable in chronic radiculopathy as it is in the acute stage.

Although trace elements have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS) for a long time, new evidence has connected familial ALS with the metalloenzyme copper-zinc superoxide dismutase, thus reinforcing the study of their metabolism. This work presents the results of serum and cerebrospinal fluid levels of copper, zinc, manganese and magnesium, by atomic absorption spectrophotometry Statistically significant decreased cerebrospinal fluid and serum copper levels were found in patients compared to the control group (20.25 ± 7.09 vs. 30.86 ± 16.02 SD μg/l and 913.21 ± 165.55 vs. 1020.17 ± 197.76 SD μg/l) while serum manganese levels were found to be increased in patients (3.59 ± 0.89 SD μg/l) compared to controls (3.03 ± 1.23 SD μg/l). Zinc and magnesium levels were unchanged. Our findings indicate an essential trace element imbalance in the disease.