Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study.

BACKGROUND AND AIMS: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul. METHODS: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed. RESULTS: One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019-February 2020) and 108 during the pandemic (March 2020-March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, p = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, p = 0.007), and a more severe disease as compared with those without antibodies. INTERPRETATION: Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with ~70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlights DECR1, ATL1, HDAC2, GEMIN4, and HNRNPA3 as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).

Characteristic features of migraine in schoolchildren and adolescents and its relationship with autonomic nervous system disorders.

OBJECTIVE: The studies about autonomic nervous system (ANS) disorders in adult migraineurs show conflicting results with limited data on ANS function in childhood and adolescence. This study aimed to investigate ANS function in childhood migraine. PATIENTS AND METHODS: The migraine and control groups consisted of 35 migraineurs and 30 healthy children, respectively. In both groups, heart rate interval variation (RRIV) and sympathetic skin response (SSR) were used as noninvasive ANS function tests. RESULTS: No significant differences in age and gender distribution were found between the study and control groups. A family history of migraine was seen in 65% patients in the study group and 20% in the control group. The duration, quality, frequency, and location of pain were variable; only 14.1% of the patients had sensory and visual aural symptoms. There was neither a significant difference in RRIV and SSR between migraine and control groups (p > 0.05) nor in heart rate responses to deep breathing (p = 0.83). The mean amplitude of SSR in children with migraine was smaller than that in the control group, but it did not reach a level of statistical significance. CONCLUSIONS: In children with migraine, our results demonstrate no abnormal ANS function related to either the sympathetic or the parasympathetic nervous system.

COST: Cognitive State Test, a brief screening battery for Alzheimer disease in illiterate and literate patients.

BACKGROUND: The aim was to develop a brief screening battery, Cognitive State Test (COST), for detecting the presence of dementia in both illiterate and literate patients and to assess its validity and reliability. METHODS: COST is a cognitive screening tool that consists of almost all cognitive domains. It takes 5-7 minutes to administer, and has a maximum score of 30. Data were obtained from 114 healthy volunteers and 74 Alzheimer dementia (AD) patients. Subjects' age divided into two groups: A1: <65 years; and A2: ≥65 years and their education level divided into three groups: E1: illiterate; E2: 1-5 years; and E3: ≥6 years. For assessing concurrent validity, total COST score was compared to the Clinical Dementia Rating (CDR), the Mini Mental State Examination (MMSE), the Montreal Cognitive Assessment (MoCA), and Basic Activities of Daily Living (BADL). Sensitivity and specificity were determined through a discriminant analysis using the Receiver Operating Characteristic (ROC) curves. Internal consistency was measured using Cronbach's coefficient α. RESULTS: For normal and AD subjects, mean age was 64.9±9.8 years (50 women and 64 men) and 67.2±13.2 years (55 women and 19 men), respectively. Schooling ranged from 0-15 years (mean 5.7±4.2 and 3.3±3.8 years, respectively), and 21 and 37 subjects were illiterate, respectively. The COST significantly and positively correlated with MMSE and MoCA, and significantly and inversely correlated with CDR, the Geriatric Depression Scale (GDS), and BADL. In the E1, E2, and E3 education groups, the optimal cut-off points of COST chosen for diagnosis of AD were 23/24 (sensitivity: 81%, specificity: 99%), 24/25 (sensitivity: 75%, specificity: 86%), and 26/27 (sensitivity: 77%, specificity: 84%), respectively. When illiterate and literate subjects were then pooled, the optimal cut-off score of COST was 24/25, which yielded a sensitivity of 81% and a specificity of 87%. Reliability of the COST was good (0.86). CONCLUSION: The COST is a valid and reliable screening battery for detection of dementia both in the illiterate and the literate Alzheimer patients.

Clinical and polysomnographic features of a large Turkish pedigree with restless leg syndrome and periodic limb movements.

PURPOSE: Restless leg syndrome (RLS) and periodic limb movements (PLMS) are common neurological diseases often associated with insomnia. A familial aggregation in RLS has been identified since it was first described; however, inheritance patterns of RLS/PLMS are poorly understood and their exact pathophysiology is not well-known. We have identified a Turkish pedigree with RLS/PLMS, which is a rare condition, in five generations of a family, including nine affected family members. METHODS: A detailed clinical evaluation of the family was conducted with the help of polysomnographic recording, electrophysiological findings, and biochemical parameters. RESULTS: The proband is a 38-year-old male member of the family who first started to show symptoms at the age of 29. All the patients from this family have been diagnosed with RLS, according to the criteria of the International RLS Study Group. Disease onset was early in all cases and even earlier in the younger generation. Three affected individuals also had PLMS on polysomnographic recordings. CONCLUSION: To our knowledge, this is the first Turkish family in which nine individuals in five generations are affected. We suggest an important effect of anticipation and genetic impact of the diseases and describe specific clinical features. Further investigation of clinical, genetic, and biochemical similarities between PLMS and RLS may yield important clues, adding to our understanding of the pathophysiology of these common diseases.

Clinical and Demographic Characteristics and Two-Year Efficacy and Safety Data of 508 Multiple Sclerosis Patients with Fingolimod Treatment.

Introduction: Fingolimod is the first oral immunomodulatory treatment used as secondary care therapy in the treatment of multiple sclerosis for the last 10 years. The objective of our study is to reveal the experiences of the first generic fingolimod active ingredient treatment in different centers across Turkey. Method: The first generic fingolimod efficacy and safety data of patients followed-up in 29 different clinical multiple sclerosis units in Turkey were analyzed retrospectively. Data regarding efficacy and safety of the patients were transferred to the data system both before the treatment and on the 6th, 12th and 24th month following the treatment. The data were analyzed using the IBM SPSS 20.00. P value of <0.05 was considered to be statistically significant. Results: A total of 508 multiple sclerosis patients, 331 of whom were women, were included in the study. Upon comparing the Expanded Disability Status values before and after the treatment, a significant decrease was observed, especially at month 6 and thereafter. Since bradycardia occurred in 11 of the patients (2.3%), the first dose had to be longer than 6 hours. During the observation of the first dose, no issues that could prevent the use of the drug occured. Side effects were seen in 49 (10.3%) patients during the course of fingolimod treatment. Respectively, the most frequent side effects were bradycardia, hypotension, headache, dizziness and tachycardia. Conclusion: The observed results regarding efficacy and safety were similar to clinical trial data in the literature and real life data in terms of the first equivalent with fingolimod active ingredient.

Erratum: Clinical and Demographic Characteristics and Two-Year Efficacy and Safety Data of 508 Multiple Sclerosis Patients with Fingolimod Treatment.

[This corrects the article on p. 23 in vol. 60, PMID: 36911568.].

Relationship of diffusion tensor imaging parameters with neurocognitive dysfunction in patients with Behcet's disease.

Behcet's disease (BD) is a chronic, multisystemic, relapsing-remitting, progressive inflammatory disorder with unknown etiology. The aim of the study is to investigate the white matter integrity and subclinical brain parenchymal involvement in Behcet's subjects by utilizing diffusion tensor imaging (DTI) and to correlate apparent diffusion coefficient (ADC), fractional anisotropy (FA), mean diffusivity (MD), and radial diffusivity (RD) values measured from the diverse distinct anatomic locations with the disease duration time and neurocognitive function test results. Thirty-five adults with Behcet's disease and 21 age-matched healthy controls were enrolled in this study. Neurocognitive functions of the patients were evaluated with the Brief Repetable Battery-Neuropsychological tests (BRB-N). In both groups, DTI metrics were calculated from 19 different locations in the brain. The association between the DTI parameters and disease duration time and neurocognitive function test results were investigated. In Behcet's disease, at the cingulum and the splenium of the corpus callosum (SCC), FA values were significantly lower compared with the controls (p = 0.0015, p = 0.003, respectively). The ADC values of the corona radiata and RD values of superior longitudinal fasciculus and SCC were significantly higher than the controls (p = 0.023, p = 0.028, p = 0.006, respectively). Significant negative correlations were found between the FA values of cingulum, genu of corpus callosum (GCC), posterior limb of internal capsule (PLIC) and disease duration time (r = - 0.368; p = 0.029 and r = - 0.337; p = 0.048 and r = - 0.527; p = 0.001 respectively). All BD subjects performed significantly lower test scores on the spatial recall test (SPART) (p = 0.001). In addition, negative correlation was found between the MD values of the parietooccipital white matter and the selective reminding test (SRT) results (r = - 0.353; p = 0.037). Our DTI study presented microstructural alterations in the neurocognitive-related areas and BRB-N test results even in patients without neurological symptoms which may imply insidious neurological involvement.

[Validity and Reliability Studies of Modified Mini Mental State Examination (MMSE-E) For Turkish Illiterate Patients With Diagnosis of Alzheimer Disease]. / Egitimsizler Için Modifiye Edilen Mini Mental Testin (MMSE-E) Türk Toplumunda Alzheimer Hastaligi Tanisinda Geçerlik ve Güvenilirlik Çalismasi.

OBJECTIVE: To investigate the validity and reliability of modified Mini Mental State Examination (MMSE-E) for illiterate patients in a Turkish population with Alzheimer's disease (AD). METHOD: A total of 107 illiterate patients with Alzheimer's Disease (women: 65, men: 42) and 68 illiterate healthy volunteer subjects (women: 36, men: 32) were included in the study. MMSE-I and Geriatrics Depression Scale were performed on all subjects, Alzheimer patients were also administered Basic Activities of Daily Living (B- ADL). Clinical Dementia Rating (CDR) was used to determine the severity of disease, while a receiver operating characteristic (ROC) analysis was performed to analyze the cut-off scores of MMSE-I, and the positive/negative predictive values that were calculated for the optimal cut-off scores. Internal consistency was measured using Cronbach's coefficient . Additionally, correlations between total MMSE-I score and the CDR, B-ADL, and GDS scores were examined. RESULTS: The MMSE-I scores significantly and inversely correlated with CDR (-0.82, p=0.000) and B-ADL scores (-0.051, p=0.000). The optimal cut-off points of MMSE-I were 23/24, which yielded a sensitivity of 99.0% - %100.0, a specificity of 98.5% - 97.0%, and an AUC of 1.0/1.0, respectively. Reliability of the MMSE-I was high α = 0.70). CONCLUSION: The total MMSE-I score was able to differentiate the AD group from the control group.

Correlation of Fatigue with Depression, Disability Level and Quality of Life in Patients with Multiple Sclerosis.

INTRODUCTION: Fatigue is a subjective and non-specific symptom; therefore, evaluation of fatigue is quite difficult. Fatigue has been reported in 75%-87% of patients with multiple sclerosis (MS) and two-thirds of these patients indicated fatigue as one of the worst three common symptoms that they experienced. This study was conducted to measure the intensity, frequency and the characteristics of fatigue in patients with MS. Moreover, the effect of fatigue on the quality of life and its association with depression and disability were evaluated. METHODS: One hundred and twenty patients with multiple sclerosis (84 women and 36 men) were included in our study. The patients' sociodemographic characteristics and their experiences on symptoms of fatigue were questioned. Presence and degree of fatigue were assessed using the fatigue severity scale (FSS). Disability status was detected with expanded disability status scale (EDSS). The Multiple Sclerosis Quality of Life (MSQoL-54) survey was conducted to evaluate the quality of life of patients and Beck Depression Inventory (BDI) was used to determine the current depression status. Patients were grouped into fatigue and non-fatigue groups based on FSS. Both groups were compared according to their age, sex, MS clinical types, course of the disease and scores of EDSS, BDI and MSQoL-54. RESULTS: Seventy percent of patients reported fatigue and 38% of these patients defined fatigue as their most disabling symptom. There was no correlation of fatigue with age, sex and disease duration. The correlation of fatigue and educational level was negative and weak (p<.05, r=-.214) and the correlation between fatigue and MS clinical types were significant but weak (p<.01, r=.228). Patients with fatigue had higher EDSS and BDI scores. In addition, FSS scores were found to be statistically meaningful and positively correlated with both EDSS and BDI scores (r=.404, r=.476, p<.01). Furthermore, our findings revealed that the quality of life in patients with MS and fatigue was poor (r=-.58 p<.01). Similarly, a negative connection was found between MSQoL-54 sub-scales and fatigue. CONCLUSION: This study proved that fatigue has a positive correlation with depression and disability and a negative significant relation with the quality of life of patients with MS.

Restless legs syndrome responsive to rasagiline treatment: a case report.

We describe a patient with idiopathic restless legs syndrome (iRLS) who was responsive to rasagiline treatment. A 70-year-old woman presented with an 8-year history of iRLS symptoms and a 1-year history of resting tremor. The patient met the UK Parkinson's Disease Society Brain Bank Clinical Diagnostic Criteria (UK Parkinson Disease [PD] Brain Bank criteria) for the diagnosis of idiopathic PD and the criteria of the International Restless Legs Syndrome Study Group for the diagnosis of iRLS. One milligram of rasagiline once daily was started with the diagnosis of early PD as monotherapy. At week 8, the patient was almost iRLS symptoms free. Rasagiline has also been shown to mildly improve PD symptoms. Rasagiline was well tolerated during the follow-up. We suggest that rasagiline could represent a useful therapeutic option in the treatment of iRLS.

Effects of insulin-like growth factor-I and platelet-rich plasma on sciatic nerve crush injury in a rat model.

OBJECT: Local administration of insulin-like growth factor-I (IGF-I) has been shown to increase the rate of axon regeneration in crush-injured and freeze-injured rat sciatic nerves. Local administration of platelet-rich plasma (PRP) has been also shown to have a measurable effect on facial nerve regeneration after transection in a rat model. The objective of the study was to compare the effects of locally administered IGF-I and PRP on the parameters of the Sciatic Function Index (SFI), sensory function (SF), axon count, and myelin thickness/axon diameter ratio (G-ratio) in a rat model of crush-injured sciatic nerves. METHODS: The right sciatic nerve of Wistar albino rats (24 animals) was crushed using a Yasargil-Phynox aneurysm clip for 45 minutes. All animals were randomly divided into 3 groups: Group 1 (control group) was treated with saline, Group 2 was treated with IGF-I, and Group 3 was treated with PRP. Injections were performed using the tissue expander's injection port with a connecting tube directed at the crush-injured site. Functional recovery was assessed with improvement in the SFI. Recovery of sensory function was using the pinch test. Histopathological examination was performed 3 months after the injury. RESULTS: The SFI showed an improved functional recovery in the IGF-I-treated animals (Group 2) compared with the saline-treated animals (Group 1) 30 days after the injury. In IGF-I-treated rats, sensory function returned to the baseline level significantly faster than in saline-treated and PRP-treated rats as shown in values between SF-2 and SF-7. The G-ratios were found to be significantly higher in both experimental groups than in the control group. CONCLUSIONS: This study suggests that the application of IGF-I to the crush-injured site may expedite the functional recovery of paralyzed muscle by increasing the rate of axon regeneration.

Delayed neuropathy due to organophosphate insecticide injection in an attempt to commit suicide.

Organophosphates (OPs) are commonly used as pesticides throughout the world. Exposures to OPs cause a significant number of poisonings and deaths every year. Organophosphate-induced delayed polyneuropathy is a sensory-motor distal axonopathy which usually occurs after exposure of certain OP insecticides. Neuropathies due to ingestion of OPs have rarely been reported in the literature. Moreover, until now, there is no report of a patient developing organophosphorus injection-induced delayed neuropathy in the literature. We report a patient with serious organophosphorus-induced delayed neuropathy due to malathion injection. The patient was a 32-year-old female who self-injected undetermined amounts of malathion over the median nerve trace on the forearm crease in a suicide attempt which resulted in peripheral neuropathy.