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Background/aim: In this study, we investigated the blink reflex (BR) after simultaneous and asynchronous stimulation of two trigeminal nerve branches. The objective was to characterize the physiology of trigeminal and facial circuits. Materials and methods: We performed three sets of experiments: recording BR response i. after supraorbital nerve stimulation (SON), after mental nerve stimulation (MN), and after simultaneous SON and MN stimulation (SON+MN) in 18 healthy individuals; ii. after MN (at an intensity eliciting BR response) preceding SON at various interstimulus intervals (ISIs) in seven healthy subjects; iii after MN (at sensory threshold) preceding SON at various ISIs. We compared the magnitudes of early and late responses. Results: The R1 amplitude after simultaneous SON+MN stimulation was greater than responses after single stimulation of the same branches. After simultaneous stimulations, the R2 and R2c areas under the curve (AUC) were smaller than the arithmetic sums of R2 and R2c AUC obtained after single stimulations. The second experiment provided a recovery excitability curve. In the third step, we obtained facilitation of R1 and inhibition of late responses. Conclusion: The SON+MN stimulation caused an increased R1 circuit excitability compared to the arithmetic sum of the single stimulations; however, magnitudes of late responses did not potentiate. Thus, we have provided evidence for R1 circuit enhancement by simultaneous stimulation in humans, whereas modulation of late responses exhibited a recovery curve similar to that shown for paired SON stimulation.
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Piscadela , Estimulação Elétrica , Voluntários Saudáveis , Humanos , Piscadela/fisiologia , Adulto , Masculino , Feminino , Estimulação Elétrica/métodos , Nervo Trigêmeo/fisiologia , Adulto Jovem , EletromiografiaRESUMO
BACKGROUND AND PURPOSE: Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease. METHODS: We leverage the diagnostic utility of exome and genome sequencing and describe novel biallelic variants in PLEKHG5 in 13 individuals from nine unrelated families originating from four different countries. We compare our phenotypic and genotypic findings with a comprehensive review of cases previously described in the literature. RESULTS: We found that patients presented with variable disease severity at different ages of onset (8-25 years). In our cases, weakness usually started proximally, progressing distally, and can be associated with intermediate slow conduction velocities and minor clinical sensory involvement. We report three novel nonsense and four novel missense pathogenic variants associated with these PLEKHG5-associated neuropathies, which are phenotypically spinal muscular atrophy (SMA) or intermediate Charcot-Marie-Tooth disease. CONCLUSIONS: PLEKHG5-associated neuropathies should be considered as an important differential in non-5q SMAs even in the presence of mild sensory impairment and a candidate causative gene for a wide range of hereditary neuropathies. We present this series of cases to further the understanding of the phenotypic and molecular spectrum of PLEKHG5-associated diseases.
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Doença de Charcot-Marie-Tooth , Doença de Charcot-Marie-Tooth/genética , Consanguinidade , Genes Recessivos , Genótipo , Fatores de Troca do Nucleotídeo Guanina , Humanos , Mutação , FenótipoRESUMO
OBJECTIVE: In this study, we analyzed the inhibitory control on the trigemino-cervical reflex (TCR), and whether or not prepulse modulation (PPM) has an effect on TCR. Thus, we studied the PPM of TCR. We hypothesized that TCR would presumably be under the modulatory effect after the prepulse stimulus similar to blink reflex (BR). We also studied the recovery of TCR which was previously shown. METHODS: We included 13 healthy individuals. All subjects underwent recordings of TCR, TCR-PPM, and recovery of TCR. For TCR-PPM, a subthreshold stimulus to second finger 50 or 100 ms before the test stimulus was applied. For recovery of TCR, two stimuli at the infraorbital nerve were applied at 300, 500, and 800 ms interstimulus intervals (ISIs). RESULTS: There was an inhibition of bilateral late responses of TCR at the ISIs of both 50 ms and 100 ms. There was no change of latencies. Full recovery of TCR did not develop even at the ISI 800 ms. DISCUSSION: We have provided an evidence for the TCR-PPM in healthy subjects for the first time in this study. The prepulse inhibition is attributed to the functions of the pedunculopontine tegmental nucleus. Our study provides a strong indication that there are connections between pedunculopontine tegmental nucleus and trigemino-cervical circuit, which produces TCR.
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Movimentos da Cabeça , Inibição Pré-Pulso , Reflexo , Adulto , Estimulação Elétrica , Face/fisiologia , Feminino , Dedos/fisiologia , Movimentos da Cabeça/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Núcleo Tegmental Pedunculopontino/fisiologia , Inibição Pré-Pulso/fisiologia , Reflexo/fisiologia , Fatores de TempoRESUMO
OBJECTIVES: To investigate the utility of shear wave elastography (SWE) in detecting morphologic abnormalities of the median nerve and posterior tibial nerve in transverse and longitudinal axes in adolescents with type 1 diabetes mellitus (DM) without diabetic peripheral neuropathy (DPN). METHODS: The median nerves and posterior tibial nerves of 25 adolescents with diagnosis and follow-up of type 1 DM without DPN and 32 healthy volunteers were evaluated with SWE by 2 observers on the transverse and longitudinal axes. The cross-sectional area and thickness of the nerves and disease duration were noted, and probable associations of these parameters with SWE features were analyzed. Interobserver and intraobserver correlations were also examined. The statistical significance level was set at P < .05. RESULTS: Both the median nerve and posterior tibial nerve were smaller, thinner, and stiffer in the patient group for both observers on both axes. The disease duration weakly correlated with median nerve SWE features (r = 0.245-0391). The thickness and cross-sectional area had no correlations with SWE features. CONCLUSIONS: The median nerve and posterior tibial nerve in adolescents with type 1 DM without DPN have morphologic abnormalities that can be displayed by SWE regardless of the imaging axis. Shear wave elastography may have a potential role in subclinical DPN, but the reliability of the findings is not as high as desirable.
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Diabetes Mellitus Tipo 1/fisiopatologia , Técnicas de Imagem por Elasticidade/métodos , Nervo Mediano/diagnóstico por imagem , Nervos Periféricos/diagnóstico por imagem , Nervos Periféricos/fisiopatologia , Nervo Tibial/diagnóstico por imagem , Adolescente , Adulto , Criança , Neuropatias Diabéticas , Feminino , Humanos , Masculino , Nervo Mediano/fisiopatologia , Reprodutibilidade dos Testes , Nervo Tibial/fisiopatologia , Adulto JovemRESUMO
BACKGROUND: Multiple Sclerosis (MS) is a neurodegenerative disease. It involves inflammation and demyelination. Since cytokines play an important role in the development of MS, genes encoding cytokines such as the Interleukin (IL)-1 family are candidate genes for MS susceptibility. OBJECTIVE: To determine the relationship between IL-1 gene family and MS in the Turkish population. METHODS: A total of 409 MS patients and 256 healthy controls were included in the study. IL-1A -889 (rs1800587), IL-1 RN variable number tandom repeat (VNTR), IL-1B -511 (rs 16944) and IL-1B +3953 (rs 1143634) polymorphisms were investigated from the genomic DNA, obtained via blood samples. RESULTS: No association was found between IL-1A and IL-1RN polymorphisms and susceptibility to MS. However, we have found significantly decreased frequency of IL-1B -511 genotype (p = 0.004) in MS patients compared to controls. In addition, there was a significant association between IL-1B -511 (1/2) genotype and early onset MS (EOMS) (p = 0.0001). CONCLUSIONS: Individuals with the 2/2 genotype of IL-1B -511 have significantly decreased incidence of MS, suggesting a protective role for this genotype in the Turkish population. Additionally, IL-1B -511 (1/2) genotype was determined as a possible risk factor for EOMS.
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Interleucina-1/genética , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Polimorfismo Genético , Adolescente , Adulto , Idoso , Alelos , Citocinas/genética , DNA/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Interleucina-1beta/genética , Masculino , Pessoa de Meia-Idade , Repetições Minissatélites , Turquia/epidemiologia , Adulto JovemRESUMO
Background and Objective: The aim of this study was to evaluate the contribution of extraocular muscle function testing with video-oculography (VOG), which is a noninvasive and easily applicable method of recording eye movement with digital cameras, to the diagnosis of myasthenia gravis (MG) in patients without any clinical eye movement abnormalities. Methods and Materials: The study included 18 patients prediagnosed with ocular MG: MG Group (N = 7) with abnormal, and non-MG Group (N = 11) with normal single-fiber electromyography. Control group included 50 healthy volunteers. Ocular movements were recorded with the EyeSeeCam VOG device. Results: The inward latency of the 10° horizontal saccade and the downward latency of the 10° vertical saccade were significantly delayed; and the downward amplitude of the 10° vertical saccade was significantly lower in the MG group. Receiver operating characteristic curve analyses showed high specificity values for the discrimination of MG patients. Conclusions: This study supports the usefulness of the VOG device in revealing subclinical extraocular muscle involvement in MG.
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Movimentos Oculares , Miastenia Gravis , Eletromiografia , Humanos , Miastenia Gravis/diagnóstico , Músculos Oculomotores , Movimentos SacádicosRESUMO
PURPOSE: In diabetes mellitus (DM), upper extremity entrapment neuropathies are suggested to be a component of polyneuropathy (PNP). Our aim is to examine the presence of ulnar neuropathy at the elbow (UNE) and its relation to other findings including PNP in symptomatic and asymptomatic type-2 DM patients who were admitted for routine examinations. METHODS: The study included all cases referred for electromyography because of type-2 DM between November 2017 and May 2018. Demographic and clinical characteristics were recorded. Routine electromyography examinations in all cases included the following: bilateral motor conduction of the median, ulnar, peroneal, and tibial nerves and sensory conduction of the median, ulnar, and sural nerves. For ulnar nerve examination, stimuli were given at the wrist, below the elbow, and above the elbow. Electrophysiological findings were evaluated according to the American Association of Neuromuscular and Electrodiagnostic Medicine criteria. RESULTS: Eighty-two patients with type-2 DM and 144 upper extremities were included in the study. Of the 82 patients who participated in the study, 3 had findings suggesting ulnar neuropathy, and electrophysiology confirmed UNE in only one. Electrophysiological studies showed UNE in 36 patients. Other diagnoses identified by electrophysiology were carpal tunnel syndrome and PNP. Ulnar neuropathy at the elbow was more commonly associated with PNP compared with carpal tunnel syndrome. Gender and PNP were independent risk factors for the development of UNE. CONCLUSIONS: Although the majority of diabetic patients were asymptomatic for the UNE, approximately one third of all patients with DM were found to have UNE. Ulnar neuropathy at the elbow is closely related with PNP.
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Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/epidemiologia , Neuropatias Diabéticas/etiologia , Neuropatias Ulnares/epidemiologia , Neuropatias Ulnares/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cotovelo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de RiscoRESUMO
Creutzfeldt-Jakob disease (CJD) is a fairly rare prion sickness characterized by rapidly progressive dementia and neuropsychiatric symptoms. The diversity of clinical characteristics of the disease causes difficulties during diagnosis. The first finding of the disease might be psychiatric symptoms. The male patient who was diagnosed with CJD after dementia, ataxia, and myoclonus developed rapidly following psychiatric symptoms, was presented in order to draw attention to the onset with psychiatric symptoms in CJD.
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Síndrome de Creutzfeldt-Jakob/psicologia , Idoso de 80 Anos ou mais , Síndrome de Creutzfeldt-Jakob/complicações , Síndrome de Creutzfeldt-Jakob/diagnóstico , Demência/complicações , Demência/diagnóstico , Demência/psicologia , Diagnóstico Diferencial , Humanos , Masculino , Escalas de Graduação PsiquiátricaRESUMO
INTRODUCTION: It is well recognized that both genetic and environmental factors play an important role in the pathogenesis of multiple sclerosis (MS). Immune pathogenesis of MS focuses on pathogenic CD4+ T lymphocytes. CD4+CD25+ regulatory T cells have suppressive function in this cell group. FOXP3 (forkhead boxP3) transcription factor is a key structure in the development and function of regulatory cells. Functional alterations in FOXP3 gene expression have been observed in various autoimmune diseases. METHODS: We screened a non-synonymous coding single nucleotide polymorphism (exon +2710 C/T) (rs2232369) of human FOXP3 gene in 148 MS patients (118 with Relapsing Remitting MS, 30 with Secondary Progressive MS) and 102 age- and sex-matched healthy controls. The association of polymorphisms with susceptibility, and course of the disease was evaluated. RESULTS: We could not detect any single nucleotide polymorphism in MS patients, however, polymorphic allele was detected in 3% of the control group. Consequently, a genetic association between the FOXP3 gene polymorphism and MS was not revealed. CONCLUSION: The distribution of this polymorphism has not been screened in any other MS populations before. Although we could not succeed to find any association between susceptibility to MS and screened FOXP3 gene polymorphisms, we suggest that this particular polymorphism is not appropriate for these kind of studies in the future.
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The pathogenesis of Parkinson Disease (PD) remains poorly understood; however, inflammation is thought to play an important role in disease progression. Recent reports suggest that IL-1, a major proinflammatory cytokine, might play a role in PD progression. The purpose of this study was to determine the relationship between IL-1 gene family polymorphisms [IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (-511, +3953)] and PD in the Turkish population. In this study, we examined the genotypes of IL-1 gene family polymorphisms in 365 individuals, of which 199 were healthy control subjects and 166 were PD patients. No significant differences were found in the genotype distribution or in the allele frequencies of IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (+3953) between PD cases and control subjects. However, distribution of the IL-1 beta -511 2/2 (T/T) genotype was found to be significantly lower in PD patients than in healthy controls (p = 0.018, x2: 8.242, OR: 2.211, 95% CI: 1.261-3.877). In addition, the IL-1 beta -511 allele 1 (C) frequency was significantly elevated in PD patients versus controls (p = 0.048, x2: 3.87, OR: 1.178, 95% CI: 0.999-1.388). These results suggest that IL-1 alpha (-889), IL-1Ra and IL-1 beta (+3953) gene polymorphisms have no association with PD, while allele 1 (C) of IL-1 beta (-511) is associated with PD and may provide a susceptibility factor for this disease in the Turkish population. Furthermore, the 2/2 (T/T) genotype of IL-1 beta (-511) may protect individuals from PD.