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).

Calcitonin gene related peptide gene polymorphism in migraine patients.

OBJECTIVE: Calcitonin gene related peptide (CGRP), which has a vasodilator effect, is held responsible for neurogenic inflammation and vasodilatation of the cranial vessels in migraine pathophysiology. In this study, we investigated the association between alpha CGRP gene polymorphism (CALCA T-692C) and migraine. MATERIAL AND METHODS: One hundred and thirty-four female migraineurs and 96 healthy female cases were enrolled in the study. The patient group was further subdivided into migraine with and without aura groups. The CALCA T-692C gene polymorphism was identified using polymerase chain reaction (PCR) technique and restriction fragment length polymorphism (RFLP). RESULTS: The genotype and allele frequencies of CALCA T-692C gene polymorphism did not differ between the migraine and control groups. Between the migraine with and without aura subgroups, there was no difference. No association was seen between the CALCA T-692C gene polymorphisms and migraine attack severity and frequency. CONCLUSION: Our study did not show any association between CALCA T-692C gene polymorphism and migraine.

Use of follow-on fingolimod for multiple sclerosis: Analysis of effectiveness and patient reported outcomes in a real-world clinical setting.

BACKGROUND: Follow-on disease modifying therapies (FO-DMTs) do not always require Phase III studies. There are concerns that cheaper FO-DMTs are only used to reduce healthcare costs. However, the well-being of people with MS (pwMS) should be a priority. We aimed to evaluate the efficacy, safety and treatment satisfaction of one of the FO- Fingolimod (FTY) used in Turkey with the approval of Turkish Ministry of Health. METHODS: PwMS under FTY were recruited from 13 centers and real-world data and answers of satisfaction and adherence statements of pwMS on FTY treatment were analyzed. RESULTS: Data of 239 pwMS were obtained. The duration of FTY treatment was 2.5 ± 0.8 (1-4) years in pwMS who were included in the study and whose treatment continued for at least one year. Significant decreases in annual relapse rate (p < 0.001), Expanded Disability Status Scale (p < 0.001) and neuroimaging findings (p < 0.001) were observed. While 64% of the patients were satisfied and 71.5% were found to adherent with this FO-FTY. CONCLUSION: This multicenter retrospective study found that the efficacy, safety and treatment adherence of a prescribed FO-FTY were consistent with the results of real-world studies. Studies including real-world data may provide guidance to address issues related to FO-FTY use.

Validity and Reliability of SCOPA Sleep Scale Turkish Version in Parkinson's Disease.

Introduction: The aim of this study was to form the Turkish adaptation of the SCOPA-SleepScale to be used in evaluating sleep quality in individuals with Parkinson's disease and to test its psychometric properties. Method: Data for this methodological study was collected between May and December 2017 in the neurology outpatient clinic of a hospital through face to face interviews with patients with a diagnosis of Parkinson's disease. The sample of the study consisted of 105 patients of 18 years of age and above with no additional neurological diseases who volunteered for the study. The SCOPA Sleep Scale was translated into Turkish through translation and back translation, and expert views were taken to test content validity. The reliability analyses of the scale were performed using item- total score correlations, test-retest correlations, and internal consistency. Exploratory factor analyses were conducted for construct validity and the Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS) were applied for criterion validity. The appropriateness of data for factor analysis was examined using the Kaiser-Meyer-Olkin (KMO) and Bartlett's tests. Results: The factor loads of the SCOPA Sleep Scale varied between 0.743 and 0.901, and the Turkish version of the scale exhibited a two factor structure in compliance with the original scale. The Cronbach`s alpha coefficient was found 0.907 for the nighttime sleep sub-dimension and 0.906 for the daytime sleepiness sub-dimension. In the test-retest evaluation, a correlation of 0.948 was obtained in the nighttime sleep sub-dimension of the scale and a correlation of 0.956 was obtainedin the daytime sleepiness sub-dimension of the scale. The nighttime sleep sub-dimension of the scale showed a positive correlation with PSQI, while the daytime sleepiness sub-dimension showed a positive correlation with ESS. Conclusion: The Turkish form of the SCOPA Sleep Scale is a valid and reliable tool to evaluate the sleep quality of individuals with Parkinson's disease.

Soluble CD40 ligand and prolactin levels in migraine patients during interictal period.

The relationship of migraine with cardiovascular diseases has been clarified by many studies, and currently, migraine is suggested to be a systematic vasculopathy. Inflammation, thrombosis and impaired vascular reactivity are the underlying pathophysiological mechanisms of the vasculopathy. In the present study, we aimed to investigate the relationship between prolactin levels and subclinical atherosclerosis risk factors such as soluble CD40 ligand (sCD40L) and high-sensitivity CRP (hsCRP) in migraine patients during interictal period. Fifty female migraine patients and age-matched 25 female control cases were enrolled in the study. Migraine diagnosis was settled according to the ICHD-II diagnostic criteria. A questionnaire was completed about the existence of vascular risk factors. Serum samples were used to measure sCD40L, hsCRP and prolactin levels. No difference was found between the prolactin levels of the migraine patients and the controls. The sCD40L levels were significantly higher in migraine patients (p < 0.001). High-sensitivity CRP levels showed no difference between the groups. There was no correlation between prolactin, sCD40L, and hs-CRP levels in migraine patients. We consider that the migraine patients are prone to subclinical atherosclerosis, but this tendency is independent of prolactin levels.

The effect of pelvic floor exercise program on incontinence and sexual dysfunction in multiple sclerosis patients.

PURPOSE: Multiple sclerosis (MS) is a chronic neuroinflammatory disease of the central nervous system that involves different neurological areas. In addition to lower urinary tract symptoms (LUTS), sexual dysfunction (SD), and psychopathological effects, MS sometimes seriously impairs the quality of life (QoL). We hypothesize that the pelvic floor exercise program (PFEP) could improve bladder, sexual function, depression, and QoL in MS patients. METHODS: Patients diagnosed with MS completed the Incontinence Questionnaire Short Form (ICIQ-SF), the Beck Depression Inventory (BDI), the Multiple Sclerosis Quality of Life-54 (MSQoL-54) questionnaire, and either the Female Sexual Function Index (FSFI) or the Sexual Health Inventory for Men (SHIM). Maximum bladder volumes (MBV) and post-voiding residual (PVR) volumes were measured using ultrasonography. The patients who regularly completed the PFEP for 12 weeks were asked to fill out the questionnaires again, and their MBV and PVR were remeasured. RESULTS: Seventy-two patients with relapsing-remitting multiple sclerosis (RRMS) were included in the study. Forty-two (58.3%) RRMS patients reached the end of the study. The patients' post-PFEP average MBV statistically increased (p = 0.01). In contrast, no statistically significant difference was found in the PVR (p = 0.2). After exercise, the FSFI values in women increased (p = 0.02), and ICIQ-SF and BDI values in all the RRMS patients statistically decreased (p = 0.004, p = 0.01, respectively), but there was no improvement in the MSQoL-54 score (p > 0.05). CONCLUSION: PFEP, which causes a reduction in LUTS by enhancing the MBV of RRMS patients, can be seen as an investment in the future in terms of reducing depression in MS patients and preventing or delaying SD in women.

Migraine in metabolic syndrome.

OBJECTIVES: Recent studies suggest that insulin resistance is more common in patients with migraine. Insulin resistance underlies the pathogenesis of obesity, diabetes, and hypertension that are components of metabolic syndrome. As migraine is associated with an increased risk of vascular disorders, such as stroke, and migraine patients have higher diastolic blood pressure than healthy individuals, we aimed to investigate the 1-year prevalence of migraine in metabolic syndrome. METHODS: Two hundred ten patients with metabolic syndrome were enrolled in the study. Migraine was diagnosed according to International Classification of Headache Disorders-II criteria. RESULTS: Migraine prevalence was estimated as 11.9% in men and 22.5% in women with metabolic syndrome. Of the metabolic syndrome components, diabetes, increased waist circumference, and body mass index were significantly more frequent in patients with migraine in contrast to those without migraine (P<0.05). Hypertension and dyslipidemia frequencies showed no difference between 2 groups. CONCLUSIONS: Our results demonstrate that migraine prevalence in metabolic syndrome was higher than in the general population.

Glu298Asp polymorphism of the endothelial nitric oxide synthase gene in Turkish patients with ischemic stroke.

The low plasma nitric oxide concentrations and reduced vascular reactivity are considered major proatherogenic mechanisms in cardiovascular diseases. The present study aimed to assess the allelic frequency and the genotypic distribution of the Glu298Asp gene polymorphism at exon 7 of endothelial nitric oxide synthase (eNOS) gene in Turkish ischemic stroke patients compared to appropriate healthy controls, and to correlate the genetic findings with stroke subtypes. The study population included 146 (75 males, 71 females) patients with ischemic stroke which were categorized according to the Trial of ORG 10172 in Acute Stroke Treatment (TOAST) and 133 (34 males, 99 females) healthy subjects. The eNOS polymorphism was identified with a PCR followed by RFLP with the restriction enzyme BanII. Genotypes were defined as GG, GT, and TT according to the presence of the G and T alleles. In this case-control study, we did not find any significant difference in either the genotypic distribution or allelic frequency of Glu298Asp gene polymorphism between the patients and the controls. In addition, there was also no significant difference for the genotype distribution and the allelic frequency among the stroke subtypes. The results suggested the lack of the association between the Glu298Asp gene polymorphism and ischemic stroke or subtypes of ischemic stroke in the Turkish population.

An epidemiologic investigation of amyotrophic lateral sclerosis in Thrace, Turkey, 2006-2010.

OBJECTIVE: The aim of the study was to investigate the incidence and prevalence of amyotrophic lateral sclerosis (ALS) in Thrace, Turkey in a five-year time period (2006-2010). METHODS: Study population included residents of three provinces (Edirne, Tekirdag, Kirklareli) in the Thrace region. Cases were ascertained from all of the neurologic centers and hospitals of these provinces. Demographic and clinical information was collected for each patient. Newly diagnosed ALS patients who are fulfilling the El Escorial revised diagnostic criteria were enrolled into the study. RESULTS: We identified a total of 145 patients (93 males, 52 females). The mean age at diagnosis was 57.0 ± 13.6. According to El Escorial criteria, 60.0% of the cases were definite ALS, 24.8% were probable, and 15.2% were possible ALS. Thirty-two cases were bulbar (22.1%), 113 cases (77.9%) were spinal onset. Mean time delay from onset to diagnosis was 12.0 ± 11.2 months. Age-gender standardized incidence rates with reference to Turkey, USA 2008 census were 1.9 (95% confidence interval (CI), 1.8-2.1), 1.9 (95%CI, 1.8-2.2) for overall. There were 112 living ALS patients at the end of the study. Crude point prevalence was calculated as 7.3 per 100,000 population (95%CI, 5.9-8.7). CONCLUSIONS: This is the first study to provide fundamental data about demographic and clinical characteristics about ALS in Thrace region of Turkey. Incidence and prevalence of ALS in Thrace region of Turkey appear to be comparable with European countries.

Low leptin levels in migraine: a case control study.

BACKGROUND: Obesity has been shown to be a risk factor for transformation of episodic migraine to chronic form, and adipocytokines have been implicated to modulate some of the cytokins such as interleukin-6 and tumor necrosis factor, which also act in the neurogenic inflammation in migraine. The aim of the study was to assess leptin levels, one of the adipocytokines, in headache-free period of migraine patients and investigate its relation to vascular risk factors. MATERIAL AND METHODS: Sixty-one patients with episodic migraine headaches and 64 control subjects were enrolled in the study. Demographic data and anthropometric measurements were obtained from all participants; body mass index and fat mass values were calculated. Glucose and lipid parameters were measured by oxidase technique and cholesterol esterase enzymatic assays, and leptin levels were measured by ELISA in serum samples obtained after an overnight fasting. RESULTS: Leptin levels were found significantly lower in migraineurs than controls (40.1 +/- 21.2 ng/mL, 48.5 +/- 24.5 ng/mL; P < .05). Although body mass index did not differ between 2 groups, fat mass, and fat percentages were significantly lower in migraine patients (19.4 +/- 8.8 kg, 26.0 +/- 8.7 kg; P < .001 and 28 +/- 9%, 34 +/- 5%; P < .001, respectively). CONCLUSION: Migraine patients have low leptin levels and fat mass which may be related to the pathogenesis of migraine. The importance and impact of our findings on the prevalence, characteristics, and treatment of migraine needs to be investigated in further detailed studies.

Insulin resistance and high sensitivity C-reactive protein in migraine.

BACKGROUND: A relationship between migraine and vascular disorders such as hypertension, stroke, and coronary ischemia has been recently reported. Insulin resistance and endothelial dysfunction, which commonly underlies these disorders, have not been widely investigated in migraine patients. In this study, we aimed to investigate the existence of insulin resistance and endothelial dysfunction, and their relationship to vascular risk factors in patients with migraine. METHODS: We evaluated insulin resistance and high-sensitivity C-reactive protein (hs-CRP), a marker of endothelial dysfunction, in 60 migraine patients and 25 healthy control subjects. Multiple analysis of covariance test was used to adjust for known confounding factors that can influence insulin metabolism and endothelial function, such as obesity, blood pressure, and lipid parameters. RESULTS: Insulin resistance, as measured homeostasis model assessment (HOMA)-R levels, was significantly higher in the migraine group (p<0.001). After adjustment for confounding variables, the relationship between migraine and the HOMA-R levels remained significant (p<0.001). The hs-CRP levels did not differ between the migraine and control groups. CONCLUSIONS: Our data show that insulin resistance is present in migraine patients. Endothelial dysfunction is not found during the headache-free period. Further studies are needed to explain the role of insulin resistance in migraine pathogenesis.

Therapeutic plasma exchange in patients with neurologic diseases: retrospective multicenter study.

Therapeutic plasma exchange (TPE) is commonly used in many neurological disorders where an immune etiology was known or suspected. We report our experience with TPE performed for neuroimmunologic disorders at four university hospitals. The study was a retrospective review of the medical records of neurological patients (n=57) consecutively treated with TPE between April 2006 and May 2007. TPE indications in neurological diseases included Guillain-Barrè Syndrome (GBS) (n=41), myasthenia gravis (MG) (n=11), acute disseminated encephalomyelitis (ADEM) (n=3), chronic inflammatory demyelinating polyneuropathy (CIDP) (n=1) and multiple sclerosis (MS) (n=1). Patient median age was 49; there was a predominance of males. Twenty-two patients had a history of other therapy including intravenous immunoglobulin (IVIG), steroid, azothioprin, and pridostigmine prior to TPE. Another 35 patients had not received any treatment prior to TPE. All patients were classified according to the Hughes functional grading scores pre- and first day post-TPE for early clinical evaluation of patients. The TPE was carried out 1-1.5 times at the predicted plasma volume every other day. Two hundred and ninety-four procedures were performed on 57 patients. The median number of TPE sessions per patient was five, and the median processed plasma volume was 3075mL for each cycle. Although the pre-TPE median Hughes score of all patients was 4, it had decreased to grade 1 after TPE. While the pre-TPE median Hughes score for GBS and MG patients was 4, post-TPE scores were decreased to grade 1. Additionally, there was a statistically significant difference between post-TPE Hughes score for GBS patients with TPE as front line therapy and patients receiving IVIG as front line therapy (1 vs. 3.5; p=0.034). Although there was no post-TPE improvement in Hughes scores in patients with ADEM and CIDP, patients with MS had an improved Hughes score from 4 to 1. Mild and manageable complications such as hypotension and hypocalcemia were also observed. TPE may be preferable for controlling symptoms of neuroimmunological disorders in early stage of the disease, especially with GBS.

Oral verapamil effectively suppressed complex ventricular arrhythmias and unmasked U waves in a patient with Andersen-Tawil syndrome.

Andersen-Tawil syndrome (ATS) is a rare, heterogeneous, autosomal dominant, or sporadic disorder characterized by the clinical triad of periodic paralysis, dysmorphic features, and ventricular arrhythmias such as bidirectional ventricular tachycardia (BVT). We present a case of an elderly patient with ATS whose symptomatic ventricular arrhythmias including BVT were effectively suppressed by oral verapamil therapy.

The roles of oxidized low-density lipoprotein and interleukin-6 levels in acute atherothrombotic and lacunar ischemic stroke.

The role of circulating, oxidized low-density lipoprotein and interleukin-6 levels in acute ischemic stroke considering the primary-vessel disease was investigated. The study consisted of 28 patients with acute ischemic stroke and 23 control subjects. Patients were subdivided into large-vessel (n = 12) and small-vessel (n =16) disease stroke groups according to the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria. The means of oxidized low-density lipoprotein and interleukin-6 levels of patients with acute ischemic stroke were higher than controls (P < .01, P < .05). Mean oxidized low-density lipoprotein level was higher in the large-vessel disease group than in the small-vessel disease group (P < .01). The mean of inteleukin-6 levels was higher in the small-vessel disease group (P < .01). The results of the present study showed that oxidative stress promotes large-vessel disease rather than small-vessel disease stroke, and inflammation may play important an role in the development of small-vessel disease stroke.

[Cerebral infarction due to traumatic carotid artery dissection: case report and review of current management]. / Travmatik karotis arter diseksiyonuna bagli serebral enfarkt: Olgu sunumu ve güncel yaklasimin gözden geçirilmesi.

With the advent of improved neuroradiological methods, it has been determined that frequency of traumatic carotid artery dissections is higher than previously observed. Since delayed neurological deficits may develop in some asymptomatic undiagnosed cases, it is essential to consider the possibility of the carotid artery dissection and evaluate it properly in suspicious cases. In this article, a case of internal carotid artery dissection and subsequent cerebral infarction following a motor vehicle accident is presented. Pathogenesis, clinical features, diagnostic method choices and treatments in this rare but severe condition are discussed in light of the relevant literature in order to convey current knowledge.

Serum osteoprotegerin levels in patients with acute atherothrombotic stroke and lacunar infarct.

BACKGROUND: Arterial calcification is associated with increased risk of cardiovascular events. Osteoprotegerin (OPG) is a cytokine involved in the bone metabolism and vascular calcification. Recent data support a relationship between high serum levels of OPG and increased risk for cardiovascular disease in human. The aim of this study was to evaluate the OPG serum levels in acute ischemic stroke. Our study was further designed to detect differences in serum OPG levels between subtypes of ischemic stroke. MATERIALS AND METHODS: The study consisted of 51 patients with acute ischemic stroke and 28 control subjects. Stroke subtypes were defined by the TOAST classifications. Serum OPG levels were measured with the ELISA method. RESULTS: OPG serum levels were significantly higher in patients with ischemic stroke than in control subjects (p<0.001). OPG serum levels were significantly higher in large-vessel disease (LVD) subtype compared with small-vessel disease (SVD) subtype and controls (p<0.001, p<0.001). There was no significant difference in OPG serum levels between SVD group and control subjects. Serum OPG levels were correlated with age (r=0.407, p=0.005) and fasting glucose levels (r=0.542, p=0.001) in ischemic stroke group. Logistic regression analysis showed that plasma OPG levels (OR 2.1, 95% CI, 1.16 to 3.4, p=0.01) associated with presence of stroke independently of the other risk factors. CONCLUSIONS: High serum OPG levels were associated with the LVD stroke subtype, suggesting that OPG levels may play role in pathogenesis of atherothrombotic stroke. The precise mechanism for the role of OPG in atherosclerosis needs to be investigated further.

Sympathetic skin response and RR interval variation in patients with cardiac syndrome X.

Sympathetic skin response (SSR) and R-R interval variation (RRIV) are noninvasive electrophysiological tests used in the assessment of sympathetic and parasympathetic nervous system function, respectively. Cardiac syndrome X (CSX) is usually diagnosed in the presence of typical angina pectoris, a positive response to exercise testing, and normal-appearing coronary angiograms without spasm induced by hyperventilation or ergonovine. Alterations of autonomic nervous system control of cardiac function have been described in CSX. The aim of the study was to investigate autonomic nervous system function in patients with CSX. Nine patients with CSX (2 men, 7 women) and healthy controls (11 men, 19 women) were included in the study. SSRs were recorded from palm of hands by stimulation of the median nerve. RRIV recordings were taken from precordium during both rest position (R%) and deep inspiration of 6 times per minute (D%). In addition D% - R% and D%/R% values were calculated. SSR amplitude of CSX was lower than in controls (3.64 +/-4.78 vs 6.36 +/-3.4 mV, p = 0.017). There was no difference between groups for SSR latency values (CSX: 1,366 +/-99; controls: 1,383 +/-85 msec). Also, R% (CSX: 13.04 +/-6.3; controls: 12.92 +/-3.91) and D% (CSX: 16.63 +/-8.88; controls: 21.43 +/-7.3) values were similar in the 2 groups. However, D% - R% (CSX: 3.59 +/-10.11; controls: 8.51 +/-7.01) and D%/R% (CSX: 1.45 +/-0.93; controls: 1.78 +/-0.69) values were slightly lower in patients with CSX but were not statistically significant. A linear correlation was found between SSR amplitude and D%/R% (r = 0.336, p = 0.036). The authors conclude that, among patients with CSX, there are alterations of autonomic nervous control of skin as well as of other organs (ie, heart). SSR and RRIV testing can be done easily in the neurophysiology laboratory to assess the sympathetic and parasympathetic system, respectively.

Hypercoagulopathy in stroke patients with nonvalvular atrial fibrillation: hematologic and cardiologic investigations.

The coagulation system is activated and coagulation activation markers are elevated in acute ischemic stroke with nonvalvular atrial fibrillation (NVAF). The etiology, severity, and prognosis of the ischemic stroke might be estimated with the level of the activation of the coagulation system. In this study, prothrombin F1+2 (F1+2), D-dimer, and fibrinogen levels were measured in patients with acute ischemic stroke with and without NVAF, and stroke severity was compared with these hemostatic parameters. Of 55 patients, 29 had sinus rhythm (group I), 26 had NVAF (group II); 20 healthy subjects (group III) were included in the study. Subtypes of cerebral infarction were classified. The patients underwent stroke severity, electrocardiography, echocardiography, cranial computed tomography, cervical duplex ultrasonography, and hemostatic parameter studies. In group II, F1+2 level (2.83+/-0.89) was significantly higher than in group I (2.33+/-0.80) and III (1.94+/-0.64) (p values: group I-II, 0.036; groups II-III, 0.001; groups I-III, 0.104). In group III, fibrinogen level (251.64+/-60.96) was significantly lower than that in groups I (347.97+/-111.49) and II (364.04+/-86.20) (p=0.001). D-dimer was not significantly different between groups. In group I, lacunar syndrome (LACS), and in group II, partial and total anterior circulation syndrome (PACS+TACS) were more common (p=0.013, p=0.001, respectively). In group II, Scandinavian Stroke Scale scores were lower than those in group I (group I=45.2+/-14, group II=35.4+/-18.9, p=0.02). In conclusion, activation of coagulation, demonstrated by increment F1+2, is more abundant in the stroke patients with NVAF than in the stroke patients with sinus rhythm. Our results also showed that activation of the hemostatic system might be related to stroke subtype and stroke severity. It is suggested that the oral anticoagulation treatment as prophylaxis is important in the prevention of stroke in patients with NVAF.

Proximal myotonic dystrophy associated with parkinsonism.

Although mental changes and cognitive disorders are seen frequently in myotonic dystrophy (MD) there are only three cases of MD associated with parkinsonism reported in the literature. We report another case of this extremely rare combination.

Normal values for single fiber EMG parameters of frontalis muscle in healthy subjects older than 70 years.

OBJECTIVE: Single fiber EMG (SFEMG) is a potent electrophysiological method to evaluate impaired neuromuscular transmission, and allows sensitive diagnosis of neuromuscular transmission abnormalities such as myasthenia gravis. The jitter and fiber density values are different for various muscles and age groups and the reference values increase with age. In this study, we evaluated the reference values of jitter and fiber density of frontalis muscle in healthy subjects older than 70 years. METHODS: We evaluated the jitter and fiber density of frontalis muscle in 32 healthy subjects. Twenty-two of them were between 70 and 79 years old (mean +/- SD, 73.9 +/- 1.7), and 10 of them were older than 80 years (mean +/- SD, 82.2 +/- 1.2). RESULTS: Normal limit of jitter (95% confidence limit) was calculated as 40.4 micros for healthy subjects between 70 and 79 years old and 43.7 micros for healthy subjects older than 80 years and normal limit of fiber density (95% confidence limit) were calculated as 1.90 for subjects between 70 and 79 years old and 2.14 for subjects older than 80 years. CONCLUSIONS: We designated the reference values of jitter and fiber density for frontalis muscle in healthy subjects older than 70 years. Our reference values may have value to diagnose neuromuscular transmission abnormalities in elderly patients. SIGNIFICANCE: SFEMG is sensitive for neuromuscular transmission abnormalities and it is important to know the reference values of frontalis muscle in healthy subjects older than 70 years.