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Abstract This study focused on detecting the reflections of healing and change in cortex activation in full-face transplantation and lesions patients on EEG activity. Face transplant patients have facial lesions before transplantation and, to identify pre-face transplant patients' brain activity in the absence of pre-transplant recordings, we used data obtained from pre-transplant facial lesion patients. Ten healthy, four facial lesion and three full-face transplant patients participated in this study. EEG data recorded for four different sensory stimuli (brush from the right face, right hand, left face, and left-hand regions) were analyzed using wavelet packet transform method. EEG waves were analyzed for standard bands. Our findings indicate significant change in the 2–4 Hz frequency range which may be a result of ongoing or previous cortical reorganization for face lesion and transplant patients. Alterations of the delta wave seen in patients with facial lesion and face transplant can also be explained by the intense central plasticity. Our findings show that the delta band differences might be used as a marker in the evaluation of post-transplant cortical plasticity in the future.

Brody Disease is an exceptionally rare, autosomal recessive myopathy attributed to the pathogenic variants in the ATP2A1, which encodes the sarcoplasmic/endoplasmic reticulum Ca (2+) ATPase type 1 protein SERCA1. It was first described by Brody IA in 1969. To date, only thirty-three Brody families with forty-seven patients have been reported in the literature, and the disease prevalence is considered as 1 in 10 million, demonstrating the peculiarity of the disease. Clinical characteristics of Brody Disease include muscle stiffness after exercise, myalgia, and muscle cramps. Brody Disease patients generally have disease onset in the first decade, and genetic diagnosis is delayed as a consequence of both the rareness and the mild course of the disease. Here, we report a Turkish Brody Disease patient with a homozygous c.428G>A p.Arg143Gln (NM_004320.4) missense mutation in the ATP2A1. The male patient, whose symptoms started at the age of 14–15, is now 36 years old. His clinical manifestations are athletic appearance, exotropia, slightly elevated creatine kinase (CK), mild progressive proximal muscle weakness in the lower extremities, muscle cramps, pain and stiffness. The patient described here has a very mild progression with an onset in the second decade, expanding the Brody Disease phenotype. The study also implies that in the era of emerging genetic therapies, the routine testing of patients with myopathies is a prerequisite since not only future therapies will be designed on molecular findings, but also currently available symptomatic and palliative treatment options will be more precisely applied.

Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease of motor neurons. Most ALS cases are considered sporadic due to the presence of a combination of environmental and complex genetic risk factors, while approximately 10% of cases have a family history. Pathogenic variants in the SOD1 gene are the second most frequent causative factor of genetics-based ALS worldwide, after C9ORF72 hexanucleotide repeat expansion. The De novo occurrence of pathogenic mutations in ALS-associated genes and its effect on disease progression have been studied previously, especially in the FUS gene. Recent studies have shown that a very small portion of SOD1 cases occurred de novo. Here, we present the first de novo case of the SOD1 His47Arg mutation in a young female patient with mild symptoms and, currently, a slow progression for 7 years.

Purpose: The purpose of the study is to analyze the neurological manifestations and to determine the association between these symptoms and mortality in hospitalized patients with coronavirus disease 2019 (COVID-19). Materials and Methods: Five hundred and forty-seven hospitalized patients with positive reverse transcriptase-polymerase chain reaction tests for severe acute respiratory syndrome coronavirus in a nasopharyngeal swab were included in this study. The demographic features, laboratory data, and radiologic imaging, neurological symptoms of hospitalized patients with COVID-19 were collected. Results: Of 547 hospitalized COVID-19 patients, the median age was 61 (range 18–93), 61.4% were male. Three hundred and forty-seven (63.4%) patients had a severe infection and 200 (36.6%) patients had a mild infection. Eighty-eight patients (16.1%) died during hospitalization. One hundred and fifty-four (28.2%) patients had at least one neurological symptom. Thirty-five (6.4%) patients manifested with only neurological symptoms at hospital admission. The most frequent neurological symptoms were headache (15.2%), taste and smell disorders (9.1%), and myalgia (6.6%). The other initial neurological manifestations were acute cerebral ischemic stroke, impaired consciousness, epileptic seizure, and posterior reversible encephalopathy. The late-onset neurological complications were autoimmune encephalitis and Guillain-Barre syndrome. The neurological manifestation was linked to the severity of disease (P = 0.005) but not correlated with mortality (P = 0.137). Conclusion: Neurological symptoms were frequent in COVID-19 patients. The neurological symptoms can be the initial symptoms or can be late-onset complications of COVID-19.

BackgroundAmyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with a median survival of 2–5 years. An early diagnosis is essential for providing ALS patients the finest management possible. Studies from different countries report a similar median diagnostic delay of around 12 months, which is still far from desirable. We analyzed the diagnostic pathway in different countries in order to identify the major challenges.MethodsWe studied a cohort of 1,405 ALS patients from five different centers, in four different countries (Turkey, Germany, Poland, and Portugal), which collaborated in a common database. Demographic, disease and sociocultural factors were collected. Time from first symptom onset to first medical evaluation and to diagnosis, the specialist assessment and investigations requested were analyzed. Factors contributing to diagnostic delay were evaluated by multivariate linear regression.ResultsThe median diagnostic delay from first symptom onset was 11 months and was similar between centers. Major differences were seen in the time from symptom onset to first medical evaluation. An earlier first medical evaluation was associated with a longer time to diagnosis, highlighting that ALS diagnosis is not straightforward in the early stages of the disease. The odds for ALS diagnosis were superior when evaluated by a neurologist and increased over time. Electromyography was decisive in establishing the diagnosis.ConclusionsWe suggest that a specific diagnostic test for ALS—a specific biomarker—will be needed to achieve early diagnosis. Early referral to a neurologist and to electromyography is important for early ALS diagnosis.

Guillain–Barré syndrome (GBS) is a disorder of the peripheral nervous system characterized by acute-onset ascendance paresis. We present a patient who was diagnosed as having facial-onset acute inflammatory demyelinating polyneuropathy after being infected with SARS-CoV-2. A 51-year-old man presented to the emergency department with facial diplegia. He then developed bilateral ascendance paralysis. He had noticed that for 1 month, he had smell and taste disturbances. SARS-CoV-2 infection was suspected. Nasopharyngeal swab polymerase chain reaction test was negative, but anti-SARS-CoV-2 antibody was found to be positive. A nerve conduction study showed prolonged motor distal and F wave latencies with decreased motor and sensory compound muscle action potential amplitudes. Lumbar puncture revealed albuminocytologic dissociation. According to the neurologic examination and laboratory findings, the patient was diagnosed as having acute inflammatory demyelinating polyneuropathy. An axonal excitability study revealed fanning in pattern with prolonged refractoriness, which indicates nodal sodium channel disturbances. Facial-onset SARS-CoV-2–related GBS has been rarely reported; however, facial involvement seems to be one of the features of the neurologic findings.

ObjectiveAmyotrophic lateral sclerosis (ALS) pathogenesis is still unclear, its course is considerably variable, and prognosis is hard to determine. Despite much research, there is still a lack of easily accessible markers predicting prognosis. We investigated routine blood parameters in ALS patients regarding correlations with disease severity, progression rate, and survival. Additionally, we analyzed disease and patients' characteristics relating to baseline blood parameter levels.MethodsWe analyzed creatine kinase (CK), albumin (ALB), creatinine (CREA), total cholesterol (TC), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides (TG) levels around time of diagnosis in 1,084 ALS patients. We carried out linear regression analyses including disease and patients' characteristics with each blood parameter to detect correlations with them. Linear regression models were performed for ALSFRS-R at study entry, its retrospectively defined rate of decay and prospectively collected progression rate. Different survival analysis methods were used to examine associations between blood parameters and survival.ResultsWe found higher CK (p-value 0.001), ALB (p-value

Introduction: Amyotrophic lateral sclerosis (ALS) is a motor neuron disease that affects nerve cells in the brain and spinal cord, controlling voluntary muscle movement. Data mining is a discipline that provides meaningful conclusions from databases or implicit data. In this study, we examine the relationship between the clinical and demographic characteristics of ALS patients and a control group, using data mining techniques. Methods: In the study, data belonging to 235 patients diagnosed with ALS and a control group of 117 people consisting of relatives of ALS patients were used. The dataset contains 121 features that include clinical and demographic information for each patient. The patient group and the control group were examined together and separately to examine the relationship between the features. In the study the data mining methods of classification and clustering were used on R and WEKA software packages. Results: There were no significant differences between ALS patients and the control group in terms of environmental factors such as location, gender, smoking, exercise status, and clinical factors such as genetics, ALS involvement, course of the disease, disease in the family. The results also showed that there was no relationship between demographic and clinical features such as gender, occupation, age group, and concomitant disease between groups or within groups.

There has been an increase in studies on amyotrophic lateral sclerosis (ALS) in the last thirty years. These studies show an ALS incidence rate that varies between 0.6 and 3.8 per 100,000 person-years. The incidence rate is significantly lower in Asia than in Europe and North America. ALS prevalence rates vary between 4.1 and 8.4 per 100,000. It is more common in men, and the male-to-female ratio is between 1 and 2. The mean age of ALS onset is between 51 and 66 years. Patients with familial ALS tend to have an earlier age of onset compared with patients with sporadic ALS. Some 58-82% of the cases have a spinal onset. The studies show age, male sex, and family history as risk factors. Other than these, lifestyle and exposure to environmental factors may have an effect. The period from the first symptoms to either invasive ventilatory support or death is between 24 and 50 months. ALS foci with high prevalence have been recorded in Guam, The Kii Peninsula, and New Guinea. Underdeveloped or developing countries show a speedy aging tendency, which points to an increased burden due to ALS in their future. Further epidemiologic studies with higher case numbers in different regions are needed to be able to enlighten causative associations of the disease.

Abstract Objective To investigate disease spread in amyotrophic lateral sclerosis (ALS), and determine the influence of lower (LMN) and upper motor neuron (UMN) involvement. Methods We assessed disease spread in ALS in 1376 consecutively studied patients, from five European centers, applying an agreed proforma to assess LMN and UMN signs. We defined the pattern of disease onset and progression from predominant UMN or lower motor neuron (LMN) dysfunction in bulbar, upper limbs, lower limbs, and thoracic regions Non‐linear regression analysis was applied to fit the data to a model that described the relation between two random variables, graphically represented by an inverse exponential curve. We analyzed the probability, rate of spread, and both combined (area under the curve). Results We found that progression was more likely and quicker to or from the region of onset to close spinal regions. When the disease had a limb onset, bulbar motor neurons were more resistant. Furthermore, in the same time frame more patients progressed from bulbar to lower limbs than vice‐versa, whether predominantly UMN or LMN involvement. Patients with initial thoracic involvement had a higher probability for rapid change. The presence of predominant UMN signs was associated with a faster caudal progression. Interpretation Contiguous progression was leading pattern, and predominant UMN involvement is important in shortening the time for cranial‐caudal spread. Our results can best be fitted to a model of independent LMN and UMN degeneration, with regional progression of LMN degeneration mostly by contiguity. UMN lesion causes an acceleration of rostral‐caudal LMN loss.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with unsatisfactory treatment options. Best management and recruitment into clinical trials requires early diagnosis. However, diagnosis is often delayed. Analysis of the diagnostic pathway and identification of the causes of diagnostic delay are imperative.Methods: We studied a cohort of 580 ALS patients followed up in our ALS clinic in Lisbon. Demographic, disease, and sociocultural factors were collected. Time from first symptom onset to diagnosis, the specialist's assessment, and investigations requested were analyzed. Predictors of diagnostic delay were evaluated by multivariate linear regression, adjusting for potential confounders.Results: The median diagnostic delay from first symptom onset was 10 months. Spinal-onset, slower disease progression, cognitive symptoms at onset, and lower income were associated with increased diagnostic delay. Most patients were first assessed by general practitioners. Patients who were first evaluated by a neurologist were more likely to be correctly diagnosed, decreasing time to diagnosis. Electromyography was decisive in establishing the diagnosis.Conclusions: Late referral from non-neurologists to a neurologist is a potentially modifiable factor contributing to significant diagnostic delay. Educational interventions targeted to non-neurologists physicians, in order to increase awareness of ALS and, consequently, promote early referral to a neurologist at a tertiary center, will be important in reducing diagnostic delay.

Background: Facioscapulohumeral muscular dystrophy (FSHD) occurs as a consequence of genetic deletion of D4Z4 repeats on chromosome 4q35. Onset of FSHD is earlier in males, suggesting that testosterone may trigger the disease. In accordance, the rapid progression of disease in women after menopause suggests a protective role for estrogen and progesterone. No studies have examined levels of all these hormones in relation with the severity of FSHD. Aims: To evaluate the possible correlation between the severity of FSHD with sex hormones, age, and genetic deletion on chromosome 4q35. Subjects and Methods: D4Z4 repeat units were investigated in 33 patients (19 males/14 females) with FSHD. In the blood samples, luteinizing hormone, follicle-stimulating hormone, free estriol, estradiol, free testosterone and total testosterone, progesterone, 17-OH progesterone, prolactin, albumin, and fibrinogen were measured. The severity of FSHD was identified using a Clinical Severity Score (CSS) scaling system. Spearman's correlation and regression analyses were performed as statistical analyses. Results: Age (P = 0.001, r = 0.541) and total testosterone (P = 0.045, r = 0.351) were positively correlated, and the progesterone/total testosterone (P = 0.025, r = −0.390) and estradiol/total testosterone ratios (P = 0.025, r = −0.389) were negatively correlated with the severity of FSHD. Conclusions: Our results indicate that age, total testosterone, ratios of estradiol and progesterone to total testosterone, but not deletion on chromosome 4q35, have a significant relation with the severity of FSHD. Given that both estrogen and testosterone treatment are considered in therapy, our results suggest that estrogen and progesterone but not testosterone are likely to be more effective on the severity of FSHD.

2019-novel Coronavirus disease (COVID-19) is a global health problem that affected >2.000.000 people in the world. Although the main component of the disease is pulmonary disturbances, recent reports suggested neurological manifestations. Neurological complications have been rarely reported with other Coronavirus associated diseases. In this short review, we would like to draw attention to COVID-19-related neurological symptoms. Heath-care providers should be aware that COVID-19 can associate neurological manifestations.

PURPOSE:Congenital mirror movement disorder (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body. In healthy controls, unilateral movements are accompanied with predominantly contralateral cortical activity, whereas in CMMD, in line with the abnormal behavior, bilateral cortical activity is observed for unilateral motor tasks. However, task-related activities in subcortical structures, which are known to play critical roles in motor actions, have not been investigated in CMMD previously.METHODS:We investigated the functional activation patterns of the motor components in CMMD patients. By using linkage analysis and exome sequencing, common mutations were revealed in seven affected individuals from the same family. Next, using functional magnetic resonance imaging (fMRI) we investigated cortical and subcortical activity during manual motor actions in two right-handed affected brothers and sex, age, education, and socioeconomically matched healthy individuals.RESULTS:Genetic analyses revealed heterozygous RAD51 c.401C>T mutation which cosegregated with the phenotype in two affected members of the family. Consistent with previous literature, our fMRI results on these two affected individuals showed that mirror movements were closely related to abnormal cortical activity in M1 and SMA during unimanual movements. Furthermore, we have found previously unknown abnormal task-related activity in subcortical structures. Specifically, we have found increased and bilateral activity during unimanual movements in thalamus, striatum, and globus pallidus in CMMD patients.CONCLUSION:These findings reveal further neural correlates of CMMD, and may guide our understanding of the critical roles of subcortical structures for unimanual movements in healthy individuals.

Abstract Background We assessed the recovery of 2 face transplantation patients with measures of complexity during neuromuscular rehabilitation. Cognitive rehabilitation methods and functional electrical stimulation were used to improve facial emotional expressions of full-face transplantation patients for 5 months. Rehabilitation and analyses were conducted at approximately 3 years after full facial transplantation in the patient group. We report complexity analysis of surface electromyography signals of these two patients in comparison to the results of 10 healthy individuals. Methods Facial surface electromyography data were collected during 6 basic emotional expressions and 4 primary facial movements from 2 full-face transplantation patients and 10 healthy individuals to determine a strategy of functional electrical stimulation and understand the mechanisms of rehabilitation. A new personalized rehabilitation technique was developed using the wavelet packet method. Rehabilitation sessions were applied twice a month for 5 months. Subsequently, motor and functional progress was assessed by comparing the fuzzy entropy of surface electromyography data against the results obtained from patients before rehabilitation and the mean results obtained from 10 healthy subjects. Results At the end of personalized rehabilitation, the patient group showed improvements in their facial symmetry and their ability to perform basic facial expressions and primary facial movements. Similarity in the pattern of fuzzy entropy for facial expressions between the patient group and healthy individuals increased. Synkinesis was detected during primary facial movements in the patient group, and one patient showed synkinesis during the happiness expression. Synkinesis in the lower face region of one of the patients was eliminated for the lid tightening movement. Conclusions The recovery of emotional expressions after personalized rehabilitation was satisfactory to the patients. The assessment with complexity analysis of sEMG data can be used for developing new neurorehabilitation techniques and detecting synkinesis after full-face transplantation.

Objective: The understanding of the spasticity mechanism is still a problem in the literature, as its definition can be made on the basis of more than one parameter. Therefore, we studied alpha motor neuron excitability, dynamic changes based on force production, and patellar tendon (T) reflex in spasticity and healthy control groups. Methods: Alpha motor neuron excitability, force production, and patellar T reflex were evaluated through three different test protocols. Motor Unit Number Index (MUNIX) measurement was applied for understanding motor neuron pool properties in the first protocol. Voluntary force production and patellar T reflex parameters were evaluated by voluntary force production and triggering patellar T reflex. Twenty spasticity and 20 healthy volunteers participated in the study. Results: In the spasticity group, both MUNIX numbers and Motor Unit Size Index (MUSIX) numbers were lower than those in the control group. The results for the Ideal Case Motor Unit Count (ICMUC) parameter show that there is no significant difference between spasticity and healthy individuals for low-level contractions, whereas there is a significant difference for high-level contractions (p

Clonus is involuntary and rhythmic muscle contractions caused by a permanent lesion in descending motor neurons. Clonus may be found at the ankle, patella, triceps surae, wrist, jaw, biceps brachii. In general, clonus may occur in any muscle with a frequency of 5-8 Hz and the average period of oscillations of the ankle clonus is approximately 160–200 ms. Plantar flexion (PF) comprises 45% of the period, dorsifleksion (DF) comprises 55% of the period. The first beat is always longer, with the time shortening in continuing beats and becoming stable in the 4th or 5th period. The exact mechanism of clonus remains unclear. Two different hypotheses have been asserted regarding the development of clonus. The most widely accepted explanation is that hyperactive stretch reflexes in clonus are caused by self-excitation. Another alternative explanation for clonus is central generator activity that arises as a consequence of appropriate peripheral events and produces rhythmic stimulation of the lower motor neurons. The durations of clonus burst were found longer than the durations of Soleus medium-latency reflex (MLR). There is a similarity in their nature, although the speed and cause of the stretch of triceps surae differ in the MLR and the clonus, and there is a sufficient period of time for group II afferents and for other spinal mechanisms to be involved in the clonus, together with Ia afferents. Clonus can be treated by using baclofen, applying cold, botox or phenol injections.

OBJECTIVE: Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy involving not only the striated muscle but also multiple systems including central nervous system, resulting from an autosomal dominantly inherited gene mutation causing trinucleotid repeats. Neuroimaging findings in patients with DM1 are ventricular enlargement, hyperintensity of white matter at the posterior-superior trigone (HWMPST), hyperostosis frontalis interna and thining of corpus callosum. Although ventriculomegaly is reportedly the most common finding, DM1 in association with normal pressure hydrocephalus (NPH) has been reported in anecdotal case reports. The aim of the study is investigate the frequency of ventriculomegaly and also clinical diagnosis of NPH in patients with DM1 in a retrospective case series. METHODS: Neuroimaging (mostly cranial MRI) findings in 20 patients (9 women; mean age: 38,25 years ± 10,26[range: 18-60]; mean disease duration: 18,9 years ± 10,5 [5-43]) with DM1 diagnosed with clinical and electromyographic findings are examined retrospectively. RESULTS: The available neuroimaging data came from MRI scans in 19 cases and CT scans in the remaining case. Ventriculomegaly as decided by increased ventriculocerebral index (VCI) was evident in only two patients who were siblings, one of whom also had classical NPH clinical triad. After ventriculoperitoneal shunt his urinary incontinence and gait difficulty had improved. CONCLUSION: This retropective analysis did not support the view that the ventriculomegaly is a frequent neuroimaging finding in adult DM1. A prospective study, preferably with genetic data that would also allow the correlation of the number of trinucleotid repeats with the abnormal neuroimaging findings, might better answer the question whether ventriculomegaly is causally associated with adult DM1, and NPH could be its secondary clinical presentation, thus further complicating the late course of this already disabling disease, since that latter condition is reversable when recognized early. Keywords: Myotonic dystophy Type 1, neuroimaging, ventriculomegaly, normal pressure hydrocephaly

We assessed clinical features as well as sensory and motor recoveries in 3 full-face transplantation patients. A frequency analysis was performed on facial surface electromyography data collected during 6 basic emotional expressions and 4 primary facial movements. Motor progress was assessed using the wavelet packet method by comparison against the mean results obtained from 10 healthy subjects. Analyses were conducted on 1 patient at approximately 1 year after face transplantation and at 2 years after transplantation in the remaining 2 patients. Motor recovery was observed following sensory recovery in all 3 patients; however, the 3 cases had different backgrounds and exhibited different degrees and rates of sensory and motor improvements after transplant. Wavelet packet energy was detected in all patients during emotional expressions and primary movements; however, there were fewer active channels during expressions in transplant patients compared to healthy individuals, and patterns of wavelet packet energy were different for each patient. Finally, high-frequency components were typically detected in patients during emotional expressions, but fewer channels demonstrated these high-frequency components in patients compared to healthy individuals. Our data suggest that the posttransplantation recovery of emotional facial expression requires neural plasticity.

Brown Séquard syndrome, is caused by a lesion effecting one half of the spinal cord in a segment or more than one segments. Below the lesion level, there is loss of deep sensory and motor functions on the ipsilateral side, whereas loss of pain and temparature sensations are present on the contralateral side. Most common causes are trauma, radiation necrosis and spinal metastases. Here, we aimed to present a case of herpes Zoster virus myelitis, that was presented as Brown Séquard sydrome, which is very rare. A 55-year-old male was presented with acute paresia of the right arm and leg. Three days after the start of these complaints, painful, itchy and vesicular blisters appeared on the extensor surface of the right arm. On neurological examination, there were 4+/5 paresis on the right arm and leg, loss of proprioception on the right upper and lower extremities, and loss of temparature sensation on the left upper and lower extremities. Servical MRI showed an expansile hyperintense lesion which was located on C5-C6 level within spinal cord, on T2-weighted images. Lesion diameter was 3 centimeters. Skin lesions showed regression within 15 days, whereas motor deficits remained stable. After 4 months, MRI showed marked regression of the spinal cord lesion. We aimed to share the findings of this HZV myelitis case, which is very rare and its MRI findings may easily misinterpreted as a spinal mass lesion