Background Peripheral neuropathy affects fine motor skills in daily life. However, reports on the effects of position sense and tactile recognition on manual dexterity are quite scarce in the literature. The increasing focus on hand rehabilitation has created a need to examine the effects of sensation on manual dexterity. Purpose The purpose of this study is to compare the effect of tactile recognition and wrist position sense on manual skills in healthy and neuropathy individuals and to investigate the relationship between them. Study Design Cross-sectional, non-randomized comparative clinical study. Methods Thirty-seven (50 hands) with median and ulnar nerve neuropathy between the ages of 18 and 65 years and 32 (64 hands) healthy individuals of similar age and gender were included in the study. Wrist position sense was assessed using the K-FORCE Sens electrogoniometer as target angle, 30° wrist flexion and extension, and 10° radial and ulnar deviation. Shape-Texture Identification Test (STI), Purdue Pegboard test (PPT), and Michigan Hand Outcome Questionnaire were applied for tactile recognition, manual dexterity, and hand functions, respectively. The independent-sample t test and Mann-Whitney U test were used for K-FORCE Sens, STI, and PPT to compare groups. Correlation coefficient was used to determine the relationship between variables. Results The mean age of individuals with neuropathy and healthy individuals was 45.7 ± 10.3 and 44.5 ± 9.2 years, respectively (p > 0.05). Seventy-three percent of individuals had median neuropathy and 27% had ulnar neuropathy. Totally, 33 dominant and 17 non-dominant hands of patients with neuropathy were affected. When healthy and neuropathic hands were compared, the mean error values in the dominant hand, flexion (4.4 ± 1.4; 6.5 ± 2.9), and radial deviation (2.4 ± 1.0; 3.3 ± 1.7) degrees were higher in the neuropathic hands (p < 0.05). Similar results were also found in the non-dominant hands. However, there was no difference between the mean error values in the extension and ulnar deviation degrees (p > 0.05). STI and PPT subtest results were also lower in the neuropathic hands (p < 0.05). There was a relationship between the mean error values of position sense in the flexion and radial deviation directions in the neuropathic dominant hands and all subtests of the PPT (p < 0.05), while there was a relation in the flexion direction in the non-dominant hand (p < 0.05). No relation was found in the Michigan Hand Outcome Questionnaire test (p > 0.05). Conclusions This study has shown that in neuropathy rehabilitation, the assessment of position and tactile sensations should not be ignored in determining participation in manual skills. This article can be used as a starting point for further studies and can be considered as one of the sensory focal points in rehabilitation in the development of manual skills.

Immune checkpoint inhibitors are breakthrough monoclonal antibodies in cancer therapy developed against mechanisms that suppress the immune response. After the devastating effects of chemotherapy, these specific agents have given hope to cancer patients. However, every drug has side effects itself and these useful drugs have theirs too. In addition to systemic side effects, there are also neurological side effects, the frequency of which is increasing day by day, although they are reported very rarely for now. Here, we present a case that has myositis-myocarditis-myasthenia gravis overlap syndrome. These three syndromes are very rare even to be seen alone, which are detected together. This syndrome with a very high mortality was brought under control in this case, and the fact that nivolumab treatment can be continued makes the case even more interesting. In this article, it is aimed to draw attention to this serious triple complication of immune checkpoint inhibitors and to review the relevant literature on a case basis.

Objectives: Duchenne and Becker muscular dystrophies (DMD/BMD) are muscle diseases that show X-linked recessive inheritance. The disease occurs depending on large mutations, deletions/duplications, small mutations, point mutations and mid-intronic mutations of the gene encoding the protein called dystrophin. Therefore, in this study, we aimed to investigate the pathogenic variants of DMD in the affected family. Methods: A 23-year-old male who had weakness in the muscles, difficulty climbing the stairs, frequent falls at the age of seven was referred to the Medical Genetics department for an initial diagnosis of DMD/BMD. His siblings also suffered from similar symptoms. Therefore, eight individuals from the same family were included in the study. MLPA analysis was performed to evaluate deletion/duplication and variants of the DMD gene were evaluated by targeted NGS. Sophia DDM algorithms were used for the bioinformatics analysis of data, and the pathogenicity of the mutations was evaluated based on in silico prediction tools. Results: Allelic variants were identified in 8 individuals of the family including two suspected patients and six suspected obligatory carriers. NGS analysis revealed that proband and his nephew were hemizygous for pathogenic c.10018T > C (p.Cys3340Arg, C3340R) mutation and mother, two sisters and niece were carriers. Conclusions: C3340R mutation was first reported in a Taiwanese BMD patient among the 23 different pathologic changes. This variant identified as pathogenic because of being highly conserved cysteine substitution in the dystroglycan-binding domain of dystrophin. This study has the importance of reporting an infrequent pathogenic mutation, C3340R, in two patients and four suspected obligatory carriers of a Turkish family.

Background and purpose - Results of conventional nerve conduction studies may be within normal limits in early diabetic neuropathy. Previous studies demonstrated that F-wave latency should be used to detect this early neuropathic process. The aim of this study is to evaluate the sensitivity of lower/upper extremity F latency ratios in detecting the early neuropathy in patients with diabetic neuropathic pain. Methods - 44 patients with diabetic neuropathic pain (DNP) and 44 control subjects whose both conventional nerve conduction studies and F-wave latencies were within normal limits were included to the study. We compared the nerve conduction parameters and lower/upper extremity (tibial/ulnar) F latency ratios of the groups. Results - Tibial F latency was significantly prolonged and tibial/ulnar F latency ratio was significantly higher in DNP group. Our results support that F-waves are useful for detecting early diabetic neuropathy and suggest that comparison with a control group will demonstrate a difference even when the individuals' F-wave latencies are within the normal limits. The difference was significant for tibial but not for ulnar F latency values supporting the length dependent involvement. The tibial/ulnar F-wave latency ratio was significantly higher in the DNP group, suggesting that it might also be useful to detect early neuropathy and to demonstrate that the underlying process was predominant in lower extremity. Conclusion - Further studies may provide additional information about the utility of this ratio for detecting early neuropathy even when F-wave latencies are within normal limits.

Since the first case has emerged, different neurological complications associated with Coronavirus disease-2019 (COVID-19) have been reported all over the world. The association between coronavirus and Guillain-Barre syndrome (GBS) has also been reported before. Unfortunately, there is no certain mechanism about this association yet. Molecular mimicry is one of the first hypotheses co express the undesirable aucoimmunity in GBS. According co this; the antibodies produced against virus may target peripheral nerves or spinal nerve roots. The entity of direct viral neurotoxicity has also been discussed. Here, we presented four variants of GBS associated with coronavirus that we followed up in our clinic between September-December 2020. While the first patient had demyelinating sensorimotor neuropathy concurrent with COVID-19, the other ones were postinfectious. The second patient had motor axonal neuropathy and the third one had sensorimotor axonal neuropathy. There was Miller-Fisher syndrome and GBS overlap in the fourth patient.

In December 2019, a novel coronavirus outbreak spread rapidly all over the world. The virus is known to be neuroinvasive, but much is still unknown. In this study, we aimed to present the main neurologic symptoms in patients who were diagnosed with coronavirus disease 2019 (COVID-19). The study was conducted retrospectively by phoning 156 patients in Turkey diagnosed with COVID-19 through real-time polymerase chain reaction; only 100 patients could be reached. Data about their demographics, initial symptoms, neurological symptoms, and sleeping habits were collected. During the disease process, 66% had at least one neurological symptom, 55% had central nervous system symptoms, 42% had peripheral nervous system symptoms, and 64% had sleep disturbances and myalgia. Impaired consciousness, smell and taste impairments, and sleep disturbances were significantly higher in patients with positive chest computed tomography imaging (p < 0.05). Neurological symptoms were observed in COVID-19, as in other coronaviruses. Headache in particular was the most common symptom in our population. In patients with respiratory system findings, the detection of certain neurological symptoms such as smell-taste impairments, impaired consciousness, and sleep disorders were more common. We concluded that COVID-19 patients should be approached in a more holistic way, taking the nervous system into account.

Background Diabetic neuropathy is one of the most common causes of neuropathic pain. LANSS, sLANSS, DN4 and painDETECT are scales which are commonly used worldwide. There are not many studies comparing these screening tools in specific neuropathic pain subgroups. The aim of this study is to compare the utilities of LANSS, sLANSS, DN4 and PainDETECT for the diagnosis of diabetic neuropathic pain. Methods One hundred-one individuals without diabetic neuropathic pain were included in control group, 102 patients with diabetic neuropathic pain to DNP group. LANSS, sLANSS, DN4 and painDETECT scores of the groups were compared. Results The difference between the groups was significant for all questionnaires and for all questions/titles they included. DN4 had the highest sensitivity and painDETECT had the highest specificity. Conclusions All questionnaires seemed to be useful for detecting diabetic neuropathic pain. DN4 had a high specificity and sensitivity. PainDETECT, also had a high sensitivity and specificity when cut off value was accepted more than 12.

Purpose: The aim of this study was to compare the neurological involvement in Coronavirus 19 (COVID-19) patients with laboratory findings with these cost-free, practical tests. Materials and Methods: Of the 170 patients diagnosed COVID-19, 103 patients could be reached by phone, and neurological symptoms were recorded as three categories. Laboratory tests of the patients and 103 controls whose real-time polymerase chain reaction (RT-PCR) test negative without any chronic disease history and drug use were obtained from the hospital software. Results: White blood cell, neutrophil, lymphocyte, eosinophil, basophil, platelet were lower, monocyte to lymphocyte ratio and platelet to lymphocyte ratio higher in patients than controls. In the group with central nervous system findings, red blood cell and hematocrit counts, in the group with peripheral nervous system findings, lymphocyte and platelet counts and with sleep disturbances and muscle pain group eosinophil counts were lower in patients than those without. Conclusion: COVID-19 patients with neurological symptoms have some hematological abnormalities. The presence of certain hematological findings may be a clue to the emergence of neurological symptoms, and early detection and correction of these hematological abnormalities may be the solution to prevent the development of neurological symptoms in COVID-19.

Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases. Here we present the case of a 27-year-old female patient who had severe abdominal pain and who was operated on due to ileus with tetraparesis that manifested following an operation. The patient had muscle weakness in four limbs and symptoms of sympathetic hyperactivity and electrolyte imbalance. Moreover, neurophysiological studies supported acute axonal polyneuropathy. Owing to the neurological symptoms, electrophysiological studies, metabolic disorders, and the severe abdominal pain noted, porphyria was suspected. Porphobilinogen and ALA levels increased in the 24-hour urine test, and the patient was diagnosed with acute intermittent porphyria. In patients who have unexplained recurrent abdominal pain with additional autonomic dysfunction, neurological and / or psychiatric findings, porphyria, a rare disease, should come to mind.

Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is an unusual but life-threatening disease that is autosomal dominant inherited and involves the mutation of the transthyretin (TTR) gene. A total of 26 patients with TTR-FAP and different mutations, including the p.Glu 109Gln mutation (previously annotated p. Glu89Gln), were previously reported in Turkey. Herein, we reported two patients from the same family who had the same p.Glu 109Gln mutation but had different clinical phenotypes. The clinical picture mainly involved polyneuropathy in one patient and cardiac involvement in the other patient. This case report mentions that TTR-FAP can cause different clinical phenotypes, even due to the same mutation and even in the same family.

The patients with polyneuropathy (PNP) have serious complaints such as sensory, motor, and pain problems. The type of PNP may also be an important factor on these symptoms in patients with PNP. The aim of this study was to research the presence of difference in terms of sensory, motor and pain outcomes in patients suffered from PNP dependent to diabet, chemotherapy or other causation.

Objective: Influence of piracetam in post-stroke aphasia and myoclonic epilepsy has been shown with EEG spectral power analysis. Particularly piracetam is involved in restoration of alpha topography in these patients. On the other hand long term effects of piracetam in Alzheimer’s disase or minimal cognitive impairment (MCI) patients have not been determined so far. Methods: We have evaluated spectral EEG analysis of 13 minimal cognitive impairment and 18 mild or less severe Alzheimer dementia patients after receiving piracetam 2400 mg and 4800 mg respectively for 4 weeks. Control group was consisted of 16 healthy subjects with similar age and sex characteristics. We analyzed EEG power spectrum before and after delivering 2400 or 4800 mg piracetam. Results: In Alzheimer’s disase group enhancement of delta band power began with 2400 mg piracetam and lasted on 4800 mg. Theta band power spectrum values significantly decreased. Alpha and beta band power spectrums were not changed. MCI patients have shown very similar results with AD patients Conclusions: We have found that long term delivering of piracetam enhances slow-wave band powers of EEG both in Alzheimer’s disase and MCI patients. Alzheimer hastalığı ve hafif kognitif bozuklukta pirasetamin EEG spektral analizi üzerine uzun dönem etkileri Amaç: Piracetamın inme sonrası afazi ve miyoklonik epilepside etkileri EEG’de spektral güç analizleri ile gösterilmiştir. Bu hastalarda pirasetamın kısmen alfa topografisinde düzenlenmesinde rolü olduğu bildirilmesine rağmen Alzheimer hastalarında veya hafif kognitif bozukluğu olan hastalarda pirecetamın uzun süreli etkileri tam olarak tanımlanmamıştır. Yöntem: Bu çalışmada 13 hafif kognitif bozukluğu olan hasta, 18 hafif veya orta derecede Alzheimer hastası ve bu hastalara yaş ve cinsiyet olarak benzer özelliklere sahip 16 sağlıklı bireyden oluşan kontrol grubunda başlangıç, 4 hafta süre ile 2400 mg piracetam kullanımı ve bunu takip eden 4 hafta süre ile 4800 piracetam kullanımı sonrası spektral EEG kayıtları incelenerek güç spektrumu analizleri yapılmıştır. Sonuçlar: Alzheimer grubunda delta bant gücünün 2400 mg dozunda ortaya çıktığı ve bu durumun 4800 mg dozunda da devam ettiği görülmüştür. Teta bant gücünde anlamlı olarak azalmanın ortaya çıktığı, alfa ve beta bant güçlerinde ise değişikliğin ortaya çıkmadığı saptanmıştır. Hafif kognitif bozukluğu olan hastalarda da benzer sonuçlar elde edilmiştir. Sonuç: Uzun süreli piracetam kullanımın Alzheimer hastaları ve hafif kognitif bozukluğu olan hastalarda EEG’de yavaş dalga bant güçlerini arttırmaktadır.

Thursday, April 30April 14, 2020Free AccessTransthyretin Familial Amyloid Polyneuropathy (TTR-FAP): A Database Analysis (3987)Cagdas Erdogan, Ayse Oytun Bayrak, Kayihan Uluc, Necdet Karli, Filiz Koc, Serefnur Ozturk, Ihsan Sukru Sengun, … Show All … , Yaprak Secil, Melih Tutuncu, Mehmet Ali Akalin, Hilmi Uysal, Sevim Erdem Ozdamar, and Yesim Parman Show FewerAuthors Info & AffiliationsApril 14, 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.3987 Letters to the Editor

Myasthenia gravis (MG) and Guillain-Barré syndrome (GBS) are autoimmune disorders that may cause weakness in the extremities. The coexistence of MG and GBS in the same patient has rarely been reported previously. A 52-year-old male presenting with ptosis of the left eye that worsened with fatigue, especially toward evening, was evaluated in our outpatient department. His acetylcholine receptor antibody results were positive, supporting the diagnosis of MG. His medical history revealed a post-infectious acute onset of weakness in four extremities, difficulty in swallowing and respiratory failure, which was compatible with a myasthenic crisis; however, his nerve conduction studies and albuminocytologic dissociation at the time were compatible with GBS. With this case report, we aimed to mention this rare coincidental state, discuss possible diagnoses and review all other similar cases in the literature with their main features.

Motor nöron hastalığının prototipi olan Amiyotrofik lateral Skleroz (ALS) patogenezinin tam olarak anlaşılamamış olması ve hastalığın yüz güldürücü bir tedavisinin olmaması tanı sürecini hasta ve hekim için endişe verici hale getirmektedir. ALS patogenezinde yer alan süreçlerin her birine ilişkin bir çok farklı ajan denense de günümüzde belli ülkelerde onay alarak kendine yer bulmuş olan ajanlar riluzol ve edaravondur.

Introduction: In this study, we aimed to investigate sympathetic nervous system functions by local sympathetic skin responses of the nasal septum in patients with acute allergic rhinitis. Material and Methods: Eighty-five patients who were diagnosed as acute allergic rhinitis according to medical history and otorhinolaryngological examination with positive allergy evaluations via skin prick testing and 50 healthy subjects were included to the study. Sympathetic skin responses of the nasal septum were recorded in patients and in the control groups, and sympathetic skin response latencies and amplitudes were compared between groups. Results: The mean value of sympathetic skin response latencies was significantly longer in the patient group than that of the control group (p<0.001). In addition, mean value of sympathetic skin response amplitudes was significantly lower in the patient group than the control group (p<0.001). Conclusion: Our study is the first which electrophysiologically evaluated the local sympathetic nervous functions that shows objective evidence of local sympathetic nervous system dysfunction. This way to access local sympathetic nervous system dysfunction would be helpful in deciding patients' treatment.

AIM:There are many trials concerning peripheral nerve damage causes and treatment options. Unfortunately, nerve damage is still a major problem regarding health, social and economic issues. On this study, we used vascular graft and human cord blood derived stem cells to find an alternative treatment solution to this problem.MATERIAL AND METHODS:We used 21 female Wistar rats on our study. They were anesthetized with ketamine and we studied right hind limbs. On Group 1, we did a full layer cut on the right sciatic nerve. On Group 2, we did a full layer cut on the right sciatic nerve, and we covered synthetic vascular graft on cut area. On Group 3, we did a full layer cut on right sciatic nerve, and we covered the area with stem cell applied vascular graft.RESULTS:At the end of postoperative 8. weeks, we performed EMG on the rats. When we compared healthy and degenerated areas as a result of EMG, we found significant amplitude differences between the groups on healthy areas whereas there was no significant difference on degenerated areas between the groups. Then we re-opened the operated area again to reveal the sciatic nerve cut area, and we performed electron microscope evaluation. On the stem cell group, we observed that both the axon and the myelin sheet prevented degeneration.CONCLUSION:This study is a first on using synthetic vascular graft and cord blood derived CD34+ cells in peripheral nerve degeneration. On the tissues that were examined with electron microscope, we observed that CD34+ cells prevented both axonal and myelin sheath degeneration. Nerve tissue showed similar results to the control group, and the damage was minimal.

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.