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1.
BMJ Neurol Open ; 5(1): e000403, 2023.
Article in English | MEDLINE | ID: mdl-36919159

ABSTRACT

Background: Blepharospasm is a focal dystonia that presents as involuntary, intermittent, continuous contractions of the eyelids. Abnormal eyelid contractions in blepharospasm are expected to cause balance problems, but there is no clear information. Objective: This study was designed to evaluate the effect of blepharospasm on postural stability (PS) in patients with blepharospasm. As a secondary endpoint, the efficacy of botulinum toxin type-A (BoNT-A) treatment on static balance in patients with blepharospasm was investigated. Methods: Twenty-four patients with blepharospasm receiving regular BoNT-A injections and 20 age-matched and sex-matched healthy controls were included in the study. All subjects were evaluated on a static posturography force platform performing four tasks (eyes open (EO), eyes closed (EC), tandem Romberg (TR) and verbal cognitive task (COGT)). Evaluations of the patients were repeated 4 weeks after the injection. Results: Pretreatment lateral and anterior-posterior sways, sway area and velocities of the sways were significantly higher in patients than controls during the COGT and TR (p<0.05). In the patient group, with EO and EC, a few parameters improved after BoNT-A injection. On the other hand, in the TR and COGT, most of the sway parameters and velocities improved significantly after treatment (p<0.05). Conclusions: Blepharospasm may cause functional blindness in patients. This study demonstrated that PS worsens in patients with blepharospasm under dual-task conditions. BoNT-A injection treats the disease itself and, thus, markedly improves PS under dual-task conditions in blepharospasm.

2.
Article in English | MEDLINE | ID: mdl-36789171

ABSTRACT

Objective: This study aimed to determine the demographic and clinical characteristics of patients with oromandibular dystonia (OMD). Background: Dystonia is a movement disorder characterized by sustained involuntary muscle contractions that often cause abnormal postures. OMD is a rare focal dystonia that affects the tongue, jaw, and mouth. OMD, which is a rare public health problem, is often recognized as psychogenic and there are delays in its diagnosis and treatment. Methods: Patients with OMD, both isolated and combined, followed at our Movement Disorders Outpatient Clinic between 2004 and 2021 were enrolled in this study. Age, sex, age at onset, and disease duration were recorded. The type of OMD, affected muscles, etiologies of accompanying neurological disorders, and treatment were noted. Results: A total of 82 patients (44 women, 38 men) were included in this study. Among these, 39 patients had isolated OMD, and 43 patients had either segmental or generalized dystonia. Seven patients reported a family history of dystonia. Only nine patients reported a sensory trick. The average disease duration was 6.01 ± 3.73 (range, 1-29) years, and the average age at onset was 43.34 ± 18.24 (range, 1-78) years. The disease etiology was unknown (idiopathic) in most patients. Fifteen patients reported task-specific dystonia. The most common type of dystonia was jaw-opening dystonia. Conclusion: OMD is focal dystonia that significantly affects the quality of life. This study adds more data to the literature by defining the clinical features of this rare disorder and draws attention to this neglected type of dystonia.


Subject(s)
Dystonia , Dystonic Disorders , Movement Disorders , Neuromuscular Agents , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Dystonia/epidemiology , Dystonia/drug therapy , Dystonic Disorders/epidemiology , Dystonic Disorders/drug therapy , Movement Disorders/drug therapy , Neuromuscular Agents/therapeutic use , Quality of Life
3.
Neurol Sci ; 44(6): 2121-2129, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36689010

ABSTRACT

BACKGROUND: Fingolimod, natalizumab, and ocrelizumab are commonly used in the second-line treatment of relapsing-remitting multiple sclerosis (RRMS). However, these have only been compared in observational studies, not in controlled trials, with limited and inconclusive results being reported. A comparison of their effect on relapse and disability in a real-world setting is therefore needed. OBJECTIVES: The objective of this study was to compare the efficacy of fingolimod, natalizumab, and ocrelizumab in reducing disease activity in RRMS. METHODS: This multicenter, retrospective observational study was carried out with prospectively collected data from 16 centers. All consecutive RRMS patients treated with fingolimod, natalizumab, and ocrelizumab were included. Data for relapses, Expanded Disability Status Scale (EDSS) scores, and brain magnetic resonance imaging (MRI) scans were collected. Patients were matched using propensity scores. Annualized relapse rates (ARR), time to first relapse, and disability accumulation were compared. RESULTS: Propensity score matching retained 736 patients in the fingolimod versus 370 in the natalizumab groups, 762 in the fingolimod versus 434 in the ocrelizumab groups, and 310 in the natalizumab versus 310 in the ocrelizumab groups for final analyses. Mean ARR decreased markedly from baseline after treatment in all three treatment groups. Mean on-treatment ARR was lower in natalizumab-treated patients (0.09, 95% confidence interval (CI), 0.07-0.12) than in those treated with fingolimod (0.17, 0.15-0.19, p<0.001), ocrelizumab (0.08, 0.06-0.11), and fingolimod (0.14, 0.12-0.16, p=0.001). No significant difference was observed in mean on-treatment ARR between patients treated with natalizumab (0.08, 0.06-0.11) and ocrelizumab (0.09, 0.07-0.12, p=0.54). Compared to fingolimod, the natalizumab and ocrelizumab groups exhibited a higher percentage of relapse-free patients and a lower percentage of MRI-active patients at year 1. No significance differences in disability accumulation were determined between the therapies. CONCLUSION: Natalizumab and ocrelizumab exhibited similar effects on relapse control, and both were associated with better relapse control than fingolimod. The effects of the three therapies on disability outcomes were similar.


Subject(s)
Multiple Sclerosis, Relapsing-Remitting , Multiple Sclerosis , Humans , Fingolimod Hydrochloride/therapeutic use , Natalizumab/therapeutic use , Multiple Sclerosis, Relapsing-Remitting/diagnostic imaging , Multiple Sclerosis, Relapsing-Remitting/drug therapy , Multiple Sclerosis/drug therapy , Treatment Outcome , Recurrence , Immunosuppressive Agents/therapeutic use , Immunologic Factors/adverse effects
4.
Parkinsons Dis ; 2022: 6723950, 2022.
Article in English | MEDLINE | ID: mdl-35864933

ABSTRACT

Background: Cardiovascular autonomic dysfunction, which leads to hemodynamic disorders, is commonly observed in patients with Parkinson's disease (PD). Central aortic pressure (CAP) is the systolic blood pressure (SBP) at the root of the aorta. In young people, CAP is lower than peripheral arterial blood pressure. In older people, the difference between CAP and peripheral arterial blood pressure decreases depending on the extent of arterial stiffness (AS). In patients with AS, CAP increases. CAP is thus regarded as an indicator of AS. Objective: To compare CAP and other hemodynamic parameters for AS between patients with Parkinson's disease and control group. We also aimed to evaluate changes in these hemodynamic parameters after the levodopa (LD) intake. Methods: We included 82 patients with PD and 76 healthy controls. Age, sex, disease duration, disease subtype, Hoehn-Yahr stage (H&Y), and nonmotor symptoms (NMS) were documented. TensioMed Software v.3.0.0.1 was used to measure CAP, peripheral arterial blood pressure, pulse pressure (PP), heart rate (HR), mean arterial pressure (MAP), augmentation index (AI), pulse wave velocity, and ejection time. All patients were being treated with LD, and measurements were performed 1 h before and 1 h after LD intake. Results: Baseline peripheral arterial blood pressure and CAP values were significantly higher in the PD group than in the control group (p < 0.001 and p=0.02, respectively). Most cardiac hemodynamic parameters, including peripheral arterial blood pressure and CAP, decreased significantly (p < 0.02 and p < 0.001, respectively) after LD intake in the PD group. Disease subtype, duration, and severity did not affect any of the hemodynamic parameters. When NMS were evaluated, patients with psychosis and dementia showed higher baseline parameters. Conclusion: Loss of postganglionic noradrenergic innervation is well-known with PD. Several cardiac hemodynamic parameters were affected, suggesting cardiac autonomic dysfunction in these patients. The data obtained were independent of disease severity, duration, and subtype. After LD intake, most of these parameters decreased, which might have a positive effect on the vascular burden.

5.
Mol Genet Genomics ; 297(4): 1141-1150, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35704118

ABSTRACT

In this study, we aimed to determine the genetic basis of a Turkish family related to hereditary spastic paraplegia (HSP) by exome sequencing. HSP is a progressive neurodegenerative disorder and displays genetic and clinical heterogeneity. The major symptoms are muscle weakness and spasticity, especially in the lower extremities. We studied seven affected and seven unaffected family members, as well as a clinically undetermined member, to identify the disease-causing gene. Exome sequencing was performed for four affected and two unaffected individuals. The variants were firstly filtered for HSP-associated genes, and we found a common variant in the ZFYVE27 gene, which has been previously implied for association with HSP. Due to the incompletely penetrant segregation pattern of the ZFYVE27 variant, revealed by Sanger sequencing, with the disease in this family, filtering was re-performed according to the mode of inheritance and allelic frequencies. The resulting 14 rare variants were further evaluated in terms of their cellular functions, and three candidate variants in ATAD3C, VPS16, and MYO1H genes were selected as possible causative variants, which were analyzed for their familial segregation. ATAD3C and VPS16 variants were eliminated due to incomplete penetrance. Eventually, the MYO1H variant NM_001101421.3:c.2972_2974del (p.Glu992del, rs372231088) was found as the possible disease-causing deletion for HSP in this family. This is the first study reporting the possible role of a MYO1H variant in HSP pathogenesis. Further studies on the cellular roles of Myo1h protein are needed to validate the causality of MYO1H gene at the onset of HSP.


Subject(s)
Myosin Type I , Spastic Paraplegia, Hereditary , Humans , Inheritance Patterns , Mutation , Myosin Type I/genetics , Pedigree , Proteins/genetics , Spastic Paraplegia, Hereditary/diagnosis , Spastic Paraplegia, Hereditary/genetics , Vesicular Transport Proteins/genetics , Exome Sequencing
6.
Mult Scler Relat Disord ; 58: 103399, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35216782

ABSTRACT

BACKGROUND: COVID-19 is a multisystemic infection with variables consequences depending on individual and comorbid conditions. The course and outcomes of COVID-19 during neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) are not clearly known. OBJECTIVE/METHODS: The aim of this study was to examine the features and outcomes of COVID-19 infection in NMOSD and MOGAD patients. The patients' demographic and clinical factors, disease modifying treatment (DMT) used and disease information of COVID-19 infection were recorded. Conditions leading to hospitalization and severe exposure to COVID-19 infection were also analyzed. RESULTS: The study included 63 patients from 25 centers. Thirty-two patients (50.8%) belong to AQP-4 seropositive group, 13 (20.6%) and 18 (28.6%) were in MOG-positive and double-seronegative groups, respectively. Risk factors for severe COVID-19 infection and hospitalization were advanced age, high disability level and the presence of comorbid disease. Disease severity was found to be high in double-seronegative NMOSD and low in MOGAD patients. No statistically significant effect of DMTs on disease severity and hospitalization was found. CONCLUSION: In NMOSD and MOGAD patients, advanced age, high disability and presence of comorbid disease pose risks for severe COVID-19 infection. There was no direct significant effect of DMTs for COVID-19 infection.


Subject(s)
COVID-19 , Neuromyelitis Optica , Aquaporin 4 , Autoantibodies/therapeutic use , COVID-19/complications , Humans , Myelin-Oligodendrocyte Glycoprotein , Neuromyelitis Optica/complications , Neuromyelitis Optica/drug therapy , Neuromyelitis Optica/epidemiology , SARS-CoV-2
7.
Arq Neuropsiquiatr ; 80(2): 168-172, 2022 02.
Article in English | MEDLINE | ID: mdl-35195221

ABSTRACT

BACKGROUND: Among the comorbidities that accompany multiple sclerosis (MS), restless legs syndrome (RLS) is one of the most common. Anxiety and depression are common psychological comorbidities that impact the quality of life of patients with MS (PwMS), as well as patients with RLS. OBJECTIVE: To investigate the psychiatric burden of MS and RLS coexistence, we conducted a nationwide, multicenter and cross-sectional survey. METHODS: Participants were assessed by using demographic and clinical parameters along with the Hamilton Anxiety and Hamilton Depression Scales (HAM-A and HAM-D). RESULTS: Out of the 1,068 participants, 173 (16.2%) were found to have RLS [RLS(+)] and 895 (83.8%) did not [RLS(-)]. The mean scores for HAM-A and HAM-D were significantly higher among RLS(+) subjects than among RLS(-) subjects (p<0.001 for all variables). CONCLUSIONS: According to our data, the presence of RLS in PwMS may increase the occurrence of both anxiety and depression symptoms. Awareness and treatment of RLS in PwMS could possibly reduce the symptoms of psychiatric comorbidities originating from RLS.


Subject(s)
Multiple Sclerosis , Restless Legs Syndrome , Anxiety/epidemiology , Cross-Sectional Studies , Depression , Humans , Multiple Sclerosis/complications , Multiple Sclerosis/epidemiology , Quality of Life , Restless Legs Syndrome/diagnosis , Restless Legs Syndrome/epidemiology
8.
Arq. neuropsiquiatr ; 80(2): 168-172, Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364368

ABSTRACT

ABSTRACT Background: Among the comorbidities that accompany multiple sclerosis (MS), restless legs syndrome (RLS) is one of the most common. Anxiety and depression are common psychological comorbidities that impact the quality of life of patients with MS (PwMS), as well as patients with RLS. Objective: To investigate the psychiatric burden of MS and RLS coexistence, we conducted a nationwide, multicenter and cross-sectional survey. Methods: Participants were assessed by using demographic and clinical parameters along with the Hamilton Anxiety and Hamilton Depression Scales (HAM-A and HAM-D). Results: Out of the 1,068 participants, 173 (16.2%) were found to have RLS [RLS(+)] and 895 (83.8%) did not [RLS(-)]. The mean scores for HAM-A and HAM-D were significantly higher among RLS(+) subjects than among RLS(-) subjects (p<0.001 for all variables). Conclusions: According to our data, the presence of RLS in PwMS may increase the occurrence of both anxiety and depression symptoms. Awareness and treatment of RLS in PwMS could possibly reduce the symptoms of psychiatric comorbidities originating from RLS.


RESUMO Antecedentes: Considerando-se as comorbidades que acompanham a esclerose múltipla (EM), a síndrome das pernas inquietas (SPI) é uma das mais comuns, e ansiedade e depressão são comorbidades psicológicas comuns que afetam a qualidade de vida de pacientes com EM, bem como de pacientes com SPI. Objetivo: Investigar a carga psiquiátrica da coexistência de EM e SPI por meio de uma pesquisa nacional, multicêntrica e transversal. Métodos: Os participantes foram avaliados por parâmetros demográficos e clínicos, além da versão turca das escalas de ansiedade e depressão de Hamilton (HAM-A e HAM-D). Resultados: Dos 1.068 participantes, 173 (16,2%) apresentaram SPI [SPI (+)] e 895 (83,8%) não [SPI (-)]. As pontuações médias no HAM-A e no HAM-D foram significativamente maiores em indivíduos com SPI (+) do que naqueles com SPI (-) (p <0,001 para todas as variáveis). Conclusões: De acordo com nossos dados, a presença de SPI na EM pode aumentar a ocorrência de sintomas de ansiedade e depressão. A conscientização e o tratamento da SPI na EM podem reduzir os sintomas de comorbidades psiquiátricas originadas da SPI.


Subject(s)
Humans , Restless Legs Syndrome/diagnosis , Restless Legs Syndrome/epidemiology , Multiple Sclerosis/complications , Multiple Sclerosis/epidemiology , Anxiety/epidemiology , Quality of Life , Cross-Sectional Studies , Depression
9.
Clin Neurol Neurosurg ; 199: 106257, 2020 12.
Article in English | MEDLINE | ID: mdl-33039854

ABSTRACT

In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features.


Subject(s)
Genetic Variation/genetics , Motor Skills Disorders/genetics , Parkinson Disease/genetics , Polymorphism, Single Nucleotide/genetics , Receptors, Dopamine D2/genetics , Receptors, Dopamine D3/genetics , Adult , Age of Onset , Cohort Studies , Female , Follow-Up Studies , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Motor Skills Disorders/diagnosis , Motor Skills Disorders/epidemiology , Parkinson Disease/diagnosis , Parkinson Disease/epidemiology
10.
Arq Neuropsiquiatr ; 78(9): 549-555, 2020 09.
Article in English | MEDLINE | ID: mdl-32609289

ABSTRACT

BACKGROUND: Cervical dystonia (CD) is the most common form of focal dystonia. It is not known exactly whether abnormal head postures in cervical dystonia cause balance problems. Dual-tasking is a common every-day life situation. OBJECTIVE: We aimed to evaluate postural stability (PS) in patients with CD and the effect of cognitive task on PS. As a secondary aim, we evaluated the effect of onabotulinum toxin A (BoNT) injection on PS. METHODS: A total of 24 patients with CD who were on BoNT treatment for at least one year and 23 healthy controls were included. Posturographic analyses were carried out in all the subjects on static posturography platform under four different conditions: eyes open, eyes closed, tandem stance and cognitive task. In patients, posturographic analysis was carried out just before the BoNT injections and was repeated four weeks later. RESULTS: Before treatment, the anterior-posterior sway was significantly higher in CD patients with the eyes open condition compared to the controls (p=0.03). Cognitive task significantly affected several sway velocities. Tandem stance significantly affected many sway parameters, whereas the eyes closed condition did not. After treatment, only two parameters in tandem stance and one in cognitive task improved within the patient group, in a pairwise comparison. CONCLUSIONS: Postural control is impaired in CD patients probably due to the impaired proprioceptive and sensorimotor integration. In reference to dual task theories possibly due to divided attention and task prioritization, cognitive dual-task and harder postural task disturbes the PS in these patients.


Subject(s)
Torticollis , Attention , Cognition , Humans , Postural Balance , Posture , Torticollis/drug therapy
11.
Mult Scler Relat Disord ; 42: 102055, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32473575

ABSTRACT

BACKGROUND: Although studies report a high prevalence rate of restless legs syndrome (RLS) among patients with multiple sclerosis (PwMS) ranging from 13.3 to 65.1%, little is known about the causes of this relationship. METHODS: To ascertain the prevalence, features and impact of RLS among PwMS a nation-wide, multicenter, prospective and a cross-sectional survey, designed to reflect all of the PwMS throughout Turkey, was conducted in 13 centers. Exploring the relationship of the two conditions could possibly contribute to the understanding of the causes of the high and wide-ranging prevalence rates and the pathophysiology of both diseases. RESULTS: Of the 1068 participants 173 (16,2%) found to have RLS [RLS(+)] and 895 (83,8%) did not [RLS(-)]. Among the RLS(+) 173, all but 8 patients (4,6%) were underdiagnosed in terms of RLS. More than half of the patients with RLS had 'severe' or 'very severe' RLS. The onset of RLS was before or synchronous with the onset of MS in about a half of our patients. CONCLUSION: We conclude that RLS should be meticulously investigated in PwMS and MS can be a direct cause of RLS at least in part of PwMS. Our data about the timing of the onset of MS and RLS, along with the high prevalence of RLS in PwMS suggest that the pathologic changes in the initial phases of MS can possibly trigger RLS symptoms.


Subject(s)
Multiple Sclerosis/epidemiology , Restless Legs Syndrome/epidemiology , Adolescent , Adult , Aged , Comorbidity , Cross-Sectional Studies , Female , Health Surveys , Humans , Male , Middle Aged , Multiple Sclerosis/complications , Prevalence , Prospective Studies , Restless Legs Syndrome/etiology , Turkey/epidemiology , Young Adult
12.
Neurol Neurochir Pol ; 54(1): 83-89, 2020.
Article in English | MEDLINE | ID: mdl-31793660

ABSTRACT

INTRODUCTION: Patients with obstructive sleep apnoea syndrome (OSAS) can be more prone to accidents due to excessive daytime sleepiness which can lead to attention deficits and thereby cause balance problems. One of the tests evaluating postural balance is static posturography (SPG). In this study, we aimed to evaluate postural balance with SPG in OSAS patients. METHODS: Patients who were referred to a sleep disorders outpatient clinic of a tertiary health care centre with snoring, daytime sleepiness or witnessed apnoea were enrolled consecutively in this cross-sectional study. They were grouped as the OSAS group and the control group according to the apnoea-hypopnoea index. Posturographic analyses were carried out in all subjects on a SPG platform under five different conditions: eyes open (EO), eyes closed (EC), head rotated to left (HL), head rotated to right (HR), and tandem Romberg. RESULTS: A total of 95 patients and 23 controls were included in the study. In EO conditions, there was no difference between the OSAS group and the control group in any of the posturographic parameters. In EC conditions, change in lateral sway was significantly higher in the OSAS group which also correlated negatively with SaO2(min). HR conditions caused an i ncrease in anterior-posterior (A-P) sway velocity, and HL conditions led to an increase in change in lateral and A-P sways, sway area, and sway area velocity in the OSAS group. CONCLUSIONS: Our findings suggest that postural balance in OSAS patients is impaired even in the very first hours of the day, and that the severity of the disease has an impact on postural balance.


Subject(s)
Postural Balance , Sleep Apnea, Obstructive , Cross-Sectional Studies , Humans , Snoring
13.
Mult Scler Relat Disord ; 36: 101376, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31473488

ABSTRACT

BACKGROUND: Fingolimod and teriflunomide are commonly used in the treatment of relapsing-remitting multiple sclerosis (RRMS). These have not been compared in controlled trials, but only in observational studies, with inconclusive results. Comparison of their effect on relapse and disability in a real-world setting is therefore needed. OBJECTIVES: The objective of this study was to compare the efficacy of fingolimod and teriflunomide in reducing disease activity in RRMS. METHODS: This multicenter, retrospective observational study was carried out with prospectively collected data from 15 centers. All consecutive RRMS patients treated with teriflunomide or fingolimod were included. Data for relapses, Expanded Disability Status Scale (EDSS) scores and brain magnetic resonance imaging (MRI) scans were collected. Patients were matched using propensity scores. Annualized relapse rates (ARR), disability accumulation, percentage of patients with active MRI and treatment discontinuation over a median 2.5-year follow-up period were compared. RESULTS: Propensity score matching retained 349 out of 1388 patients in the fingolimod group and 349 out 678 in the teriflunomide group for final analyses. Mean ARR decreased markedly from baseline after 1 and 2 years of treatment in both the fingolimod (0.58-0.17 after 1 year and 0.11 after 2 years, p < 0.001) and teriflunomide (0.56-0.29 after 1 year and 0.31 after 2 years, p < 0.001) groups. Mean ARR was lower in fingolimod-treated patients than in those treated with teriflunomide at years 1 (p = 0.02) and 2 (p = 0.004). Compared to teriflunomide, the fingolimod group exhibited a higher percentage of relapse-free patients and a lower percentage of MRI-active patients after 2.5-year follow-up. Disability worsening was similar between the two groups. Patients were less likely to discontinue fingolimod than teriflunomide (p < 0.001). CONCLUSION: Fingolimod was associated with a better relapse control and lower discontinuation rate than teriflunomide. The two oral therapies exhibited similar effects on disability outcomes.


Subject(s)
Crotonates/pharmacology , Fingolimod Hydrochloride/pharmacology , Immunologic Factors/pharmacology , Multiple Sclerosis, Relapsing-Remitting/drug therapy , Outcome Assessment, Health Care , Toluidines/pharmacology , Adult , Crotonates/administration & dosage , Female , Fingolimod Hydrochloride/administration & dosage , Humans , Hydroxybutyrates , Immunologic Factors/administration & dosage , Male , Middle Aged , Multiple Sclerosis, Relapsing-Remitting/diagnostic imaging , Multiple Sclerosis, Relapsing-Remitting/physiopathology , Nitriles , Propensity Score , Retrospective Studies , Secondary Prevention , Severity of Illness Index , Toluidines/administration & dosage
14.
Neurol Res ; 39(11): 965-972, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28830306

ABSTRACT

Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals. Results The methylation of SNCA and PARK2 promoter regions were significantly lower in EOPD patients compared to the control group (P = 0.013 and P = 0.03, respectively). We also found that the methylation status of the SNCA might be associated with positive family history of PD (P = 0.042). Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.


Subject(s)
DNA Methylation , Parkinson Disease/genetics , Promoter Regions, Genetic , Ubiquitin-Protein Ligases/genetics , alpha-Synuclein/genetics , Age of Onset , CpG Islands , Epigenesis, Genetic , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Parkinson Disease/metabolism , Pedigree
15.
Acta Clin Belg ; 71(3): 154-7, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27098603

ABSTRACT

INTRODUCTION: Multiple sclerosis (MS) may present with unusual manifestations such as pain syndromes, movement disorders, rare cranial nerve involvement, cognitive or psychiatric symptoms, leading to diagnostic dilemma. The purpose of this study is to determine the types of rare onset symptoms in patients with MS in order to provide better clues for early diagnosis. METHOD: We, retrospectively, analysed data of 680 MS patients who were diagnosed or followed-up in our demyelinating diseases unit. Onset symptoms such as visual field defects, rare cranial nerve involvement, paroxysmal symptoms, movement disorders, pain syndromes, cognitive and psychiatric manifestations were recorded. RESULTS: Nineteen MS patients (13 women) were identified as having unusual initial manifestations. None of these cases had typical optic, brainstem, sensory, motor or cerebellar signs. Five patients presented with rare cranial nerve involvement, five patients with pain syndromes, four patients with movement disorders, two patients with paroxysmal symptoms, two patients with cognitive deficits and one patient with homonymous hemianopia. None of these patients were diagnosed with MS at initial presentation; all of them were diagnosed with MS in the following months or years. CONCLUSION: This retrospective study indicates that there is a wide range of rare initial manifestations of MS due to diverse involvement of central nervous system. Rare, unusual symptoms complicate early diagnosis. Given the fact that disease modifying treatment should be initiated early, it is crucial to diagnose MS as early as possible. Therefore, physicians should not disregard MS when a patient presents with any of these rare manifestations.


Subject(s)
Multiple Sclerosis/diagnosis , Multiple Sclerosis/epidemiology , Adult , Cognitive Dysfunction , Cranial Nerve Diseases , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Movement Disorders , Retrospective Studies , Young Adult
16.
Curr Eye Res ; 41(10): 1353-1358, 2016 10.
Article in English | MEDLINE | ID: mdl-26882356

ABSTRACT

PURPOSE: The present study was conducted to investigate alterations in the innermost layers of the retina using optical coherence tomography (OCT) and to assess potential associations of structural measures with functional markers in patients with Multiple Sclerosis (MS). MATERIALS AND METHODS: Ninety-four eyes of 47 MS patients and 60 eyes of 30 healthy individuals were included in the study. All patients underwent complete ophthalmological examination and OCT imaging to analyze peripapillary retinal nerve fiber layer (RNFL) and ganglion cell-inner plexiform layer (GCIPL) thickness. Visual evoked potentials (VEPs) and expanded disability status scale (EDSS) score were assessed for MS patients. RESULTS: The average RNFL and GCIPL thicknesses were thinner in MS patients (86.2 ± 11.9 µm and 73.6 ± 9.7 µm, respectively) when compared with those of healthy controls (96.7 ± 8.2 µm and 85.9 ± 4.6 µm, respectively, p < 0.001 for both). Within MS patients, the average RNFL and GCIPL thicknesses were lower in eyes with a prior history of optic neuritis (MS ON) than in eyes with no optic neuritis history (MS non-ON) (p = 0.012 and p < 0.001, respectively). RNFL and GCIPL thicknesses were inversely correlated with VEP latency (r = -0.40, p < 0.001 and r = -0.36, p < 0.001, respectively) in MS patient eyes. There was a correlation between GCIPL thickness and VEP amplitude in eyes with previous ON history (r = 0.34, p = 0.035). No significant correlations were found between OCT measurements and EDSS score. CONCLUSIONS: Innermost layers of the retina are highly affected by the pathophysiologic process in MS disease, manifesting as a reduction in RNFL and GCIPL thickness. The structural retinal changes show correlation with alterations in potentials showing the optic pathway function.


Subject(s)
Evoked Potentials, Visual/physiology , Multiple Sclerosis/diagnosis , Retina/physiopathology , Visual Acuity , Adult , Cross-Sectional Studies , Female , Follow-Up Studies , Humans , Male , Middle Aged , Multiple Sclerosis/complications , Multiple Sclerosis/physiopathology , Nerve Fibers/pathology , Optic Neuritis/diagnosis , Optic Neuritis/etiology , Optic Neuritis/physiopathology , Retina/pathology , Retinal Ganglion Cells/pathology , Retrospective Studies , Tomography, Optical Coherence/methods , Young Adult
18.
Ophthalmologica ; 235(2): 65-71, 2016.
Article in English | MEDLINE | ID: mdl-26485541

ABSTRACT

OBJECTIVE: To evaluate the choroidal thickness in patients with multiple sclerosis (MS) using enhanced depth imaging optical coherence tomography (EDI-OCT). METHODS: In this observational comparative study, 68 eyes of 34 MS patients and 60 eyes of 30 healthy subjects were evaluated. All participants underwent complete ophthalmologic examination and OCT scanning. Choroidal thickness measurements were performed at seven points. RESULTS: The mean subfoveal choroidal thickness was reduced significantly in MS patients (310.71 ± 61.85 µm) versus healthy controls (364.85 ± 41.81 µm) (p < 0.001). The difference was also significant at all six measurement points (p < 0.001 for all). Choroidal thickness measurements revealed no significant difference between MS eyes with a prior optic neuritis (ON) history (MS ON) and those without ON history (MS non-ON). Subfoveal choroidal thickness did not correlate with retinal nerve fiber layer and Expanded Disability Status Scale score, but reduced choroidal thickness was associated with longer disease duration (r = -0.28, p = 0.019) in MS patients. CONCLUSION: In MS patients, choroidal structural changes occur both in MS ON and MS non-ON eyes. The decreased choroidal thickness might provide evidence to support a potential role of vascular dysregulation in the pathophysiology of MS.


Subject(s)
Choroid/blood supply , Choroid/pathology , Multiple Sclerosis/pathology , Tomography, Optical Coherence/methods , Adult , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Multiple Sclerosis/complications , Optic Neuritis/complications , Optic Neuritis/pathology , Regional Blood Flow
19.
Noro Psikiyatr Ars ; 51(4): 408-409, 2014 Dec.
Article in English | MEDLINE | ID: mdl-28360664
20.
Int J Neurosci ; 118(3): 337-41, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18300006

ABSTRACT

The association between Amyotrophic Lateral Sclerosis or other Motor Neuron Diseases (MNDs) with Lymphoproliferative Disorders (LPDs) and plasma cell neoplasias (such as Hodgkin's or non-Hodgkin's lymphoma, Waldenstrom's macroglobulinemia, multiple myeloma, chronic lymphocytic leukemia) has been described. It is not clear whether LPDs play a role in the pathogenesis of MND; however it is possible that patients might have antibodies against motor neurons. An association between motor neuron disease and Multiple myeloma (MM) is rarely reported in the literature. This article reports a case of a 75-year-old male with MM and MND. Interestingly, the patient was in complete remission for MM when he was diagnosed as MND and he died due to progressive MND.


Subject(s)
Motor Neuron Disease/complications , Multiple Myeloma/complications , Aged , Fatal Outcome , Humans , Male , Motor Neuron Disease/drug therapy , Neuroprotective Agents/therapeutic use , Riluzole/therapeutic use
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