RESUMO
BACKGROUND: Optic neuritis (ON) prognosis is influenced by various factors including attack severity, underlying aetiologies, treatments and consequences of previous episodes. This study, conducted on a large cohort of first ON episodes, aimed to identify unique prognostic factors for each ON subtype, while excluding any potential influence from pre-existing sequelae. METHODS: Patients experiencing their first ON episodes, with complete aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) antibody testing, and clinical data for applying multiple sclerosis (MS) diagnostic criteria, were enrolled. 427 eyes from 355 patients from 10 hospitals were categorised into four subgroups: neuromyelitis optica with AQP4 IgG (NMOSD-ON), MOG antibody-associated disease (MOGAD-ON), ON in MS (MS-ON) or idiopathic ON (ION). Prognostic factors linked to complete recovery (regaining 20/20 visual acuity (VA)) or moderate recovery (regaining 20/40 VA) were assessed through multivariable Cox regression analysis. RESULTS: VA at nadir emerged as a robust prognostic factor for both complete and moderate recovery, spanning all ON subtypes. Early intravenous methylprednisolone (IVMP) was associated with enhanced complete recovery in NMOSD-ON and MOGAD-ON, but not in MS-ON or ION. Interestingly, in NMOSD-ON, even a slight IVMP delay in IVMP by >3 days had a significant negative impact, whereas a moderate delay up to 7-9 days was permissible in MOGAD-ON. Female sex predicted poor recovery in MOGAD-ON, while older age hindered moderate recovery in NMOSD-ON and ION. CONCLUSION: This comprehensive multicentre analysis on first-onset ON unveils subtype-specific prognostic factors. These insights will assist tailored treatment strategies and patient counselling for ON.
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Autoanticorpos , Metilprednisolona , Glicoproteína Mielina-Oligodendrócito , Neurite Óptica , Humanos , Masculino , Feminino , Prognóstico , Adulto , Neurite Óptica/diagnóstico , Neurite Óptica/imunologia , Glicoproteína Mielina-Oligodendrócito/imunologia , Pessoa de Meia-Idade , Autoanticorpos/sangue , Metilprednisolona/uso terapêutico , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/imunologia , Aquaporina 4/imunologia , Acuidade Visual/fisiologia , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/imunologia , Adulto Jovem , Adolescente , IdosoRESUMO
Spinal and bulbar muscular atrophy, namely Kennedy disease, is a rare progressive neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene on the X chromosome. We assessed the clinical history, laboratory findings, functional scales and electrophysiological data, as well as the levels of luteinizing hormone, follicle-stimulating hormone and testosterone, in 157 Korean patients with genetically confirmed spinal and bulbar muscular atrophy (mean age at data collection = 56.9 years; range = 33-83 years). Hand tremor was the first symptom noticed by patients at a median age of 35 years, followed by gynaecomastia, orofacial fasciculation, cramps and fatigability in ascending order. Clinical symptoms such as paraesthesia and dysphagia appeared during the later stages of the disease. Cane use during ambulation began at a median age of 62 years. There were statistically significant differences between patients and controls in the results of sensory nerve studies, motor conduction velocity, and distal latencies. Furthermore, among the hormone markers analysed, the level of luteinizing hormone exhibited a negative correlation with the spinal and bulbar muscular atrophy functional rating scale, Korean version. However, among the patients with a disease duration of ≤5 years, the levels of luteinizing hormone showed a significant correlation with assessments using the amyotrophic lateral sclerosis functional rating scale-revised, spinal and bulbar muscular atrophy functional rating scale, Korean version and the 6-minute walk test. In conclusion, our findings provide clinical information from a substantial number of patients with spinal and bulbar muscular atrophy in Korea that accorded with that of patients with this disease worldwide but with updated clinical features.
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Atrofia Bulboespinal Ligada ao X , Atrofia Muscular Espinal , Humanos , Adulto , Pessoa de Meia-Idade , Atrofia Bulboespinal Ligada ao X/diagnóstico , Atrofia Bulboespinal Ligada ao X/genética , Estudos Transversais , Tremor , Atrofia Muscular , Hormônio Luteinizante , Atrofia Muscular Espinal/genética , Receptores Androgênicos/genéticaRESUMO
BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) causes relapsing inflammatory attacks in the central nervous system, leading to disability. As rituximab, a B-lymphocyte-depleting monoclonal antibody, is an effective in preventing NMOSD relapses, we hypothesised that earlier initiation of rituximab can also reduce long-term disability of patients with NMOSD. METHODS: This multicentre retrospective study involving 19 South Korean referral centres included patients with NMOSD with aquaporin-4 antibodies receiving rituximab treatment. Factors associated with the long-term Expanded Disability Status Scale (EDSS) were assessed using multivariable regression analysis. RESULTS: In total, 145 patients with rituximab treatment (mean age of onset, 39.5 years; 88.3% female; 98.6% on immunosuppressants/oral steroids before rituximab treatment; mean disease duration of 121 months) were included. Multivariable analysis revealed that the EDSS at the last follow-up was associated with time to rituximab initiation (interval from first symptom onset to initiation of rituximab treatment). EDSS at the last follow-up was also associated with maximum EDSS before rituximab treatment. In subgroup analysis, the time to initiation of rituximab was associated with EDSS at last follow-up in patients aged less than 50 years, female and those with a maximum EDSS score ≥6 before rituximab treatment. CONCLUSIONS: Earlier initiation of rituximab treatment may prevent long-term disability worsening in patients with NMOSD, especially among those with early to middle-age onset, female sex and severe attacks.
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Aquaporinas , Neuromielite Óptica , Pessoa de Meia-Idade , Humanos , Feminino , Adulto , Masculino , Rituximab/uso terapêutico , Estudos Retrospectivos , Autoanticorpos , Aquaporina 4RESUMO
We aimed to compare seroprevalence of anti-myelin oligodendrocyte glycoprotein (MOG) and anti-aquaporin-4 (AQP4) antibodies in Korean adults with inflammatory demyelinating diseases (IDDs) of the central nervous system (CNS), based on a multicenter nationwide database. Sera were analyzed using a live cell-based assay for MOG and AQP4 antibodies. Of 586 Korean adults with IDDs of the CNS, 36 (6.1%) and 185 (31.6%) tested positive for MOG and AQP4 antibodies, respectively. No participant showed double positivity. Seroprevalence of MOG antibodies was about five times lower than that of AQP4 antibodies in a large cohort of Korean adults with IDDs of the CNS.
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Aquaporina 4 , Doenças do Sistema Nervoso Central , Adulto , Humanos , Glicoproteína Mielina-Oligodendrócito , República da Coreia/epidemiologia , Estudos SoroepidemiológicosRESUMO
BACKGROUND: Isolated central positional vertigo (CPV) due to cerebellar infarction is often difficult to differentiate from benign paroxysmal positional vertigo (BPPV). Here, we aimed to evaluate whether vascular risk factors and serum vitamin D level can differentiate between positional vertigo types. METHODS: A total of 78 consecutive patients were consecutively enrolled from January 2017. All CPV patients had a National Institutes of Health Stroke Scale score of 0 and cerebellar infarctions confirmed by brain MR imaging. Vascular risk factors and serum 25-hydroxyvitamin D levels were compared between the two groups of patients. RESULTS: The proportion of men was higher in the CPV than in the BPPV group (p = 0.004). Atrial fibrillation was common in the CPV group on univariate analysis (p = 0.046). However, there were no independent differentiating factors between the two groups. The proportion of patients according to the number of risk factors was significantly different between the two groups (linear by linear association test, p = 0.02). The mean serum 25-hydroxyvitamin D level did not differ. Also, the proportions of vitamin D insufficiency and deficiency did not differ significantly between the two groups. CONCLUSIONS: Increased number of vascular risk factors including male sex suggested more CPV than BPPV. However, the serum vitamin D level was below the normal range in both groups. Our results demonstrate that serum vitamin D level has little value in the differential diagnosis of positional vertigo. Efforts to identify differentiating factors are warranted, and accumulating evidences including our research may lead to a diagnostic algorithm for isolated positional vertigo.
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Vertigem Posicional Paroxística Benigna , Deficiência de Vitamina D , Vertigem Posicional Paroxística Benigna/complicações , Vertigem Posicional Paroxística Benigna/diagnóstico , Calcifediol , Humanos , Infarto , Masculino , Fatores de RiscoRESUMO
BACKGROUND: Alexander disease (AxD) is an astrogliopathy that predominantly affects the white matter of the central nervous system (CNS), and is caused by a mutation in the gene encoding the glial fibrillary acidic protein (GFAP), an intermediate filament primarily expressed in astrocytes and ependymal cells. The main pathologic feature of AxD is the presence of Rosenthal fibers (RFs), homogeneous eosinophilic inclusions found in astrocytes. Because of difficulties in procuring patient' CNS tissues and the presence of RFs in other pathologic conditions, there is a need to develop an in vivo assay that can determine whether a mutation in the GFAP results in aggregation and is thus disease-causing. METHODS: We found a GFAP mutation (c.382G > A, p.Asp128Asn) in a 68-year-old man with slowly progressive gait disturbance with tendency to fall. The patient was tentatively diagnosed with AxD based on clinical and radiological findings. To develop a vertebrate model to assess the aggregation tendency of GFAP, we expressed several previously reported mutant GFAPs and p.Asp128Asn GFAP in zebrafish embryos. RESULTS: The most common GFAP mutations in AxD, p.Arg79Cys, p.Arg79His, p.Arg239Cys and p.Arg239His, and p.Asp128Asn induced a significantly higher number of GFAP aggregates in zebrafish embryos than wild-type GFAP. CONCLUSIONS: The p.Asp128Asn GFAP mutation is likely to be a disease-causing mutation. Although it needs to be tested more extensively in larger case series, the zebrafish assay system presented here would help clinicians determine whether GFAP mutations identified in putative AxD patients are disease-causing.
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Doença de Alexander/genética , Proteína Glial Fibrilar Ácida/genética , Idoso , Animais , Astrócitos , Proteína Glial Fibrilar Ácida/metabolismo , Humanos , Masculino , Mutação , Peixe-ZebraRESUMO
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable mental retardation. Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. We identified four novel NTRK1 mutations in six Korean patients from four unrelated families. Of the four mutations, we demonstrated using a splicing assay that IVS14+3A>T causes aberrant splicing of NTRK1 mRNA, leading to introduction of a premature termination codon. An NTRK1 autophosphorylation assay showed that c.1786G>A (p.Asp596Asn) abolished autophosphorylation of NTRK1. In addition, Western blotting showed that c.704C>G (p.Ser235*) and c.2350_2363del (p.Leu784Serfs*79) blunted NTRK1 expression to undetectable levels. The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis.
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Neuropatias Hereditárias Sensoriais e Autônomas/genética , Mutação/genética , Receptor trkA/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Estimulação Elétrica , Saúde da Família , Feminino , Células HEK293 , Neuropatias Hereditárias Sensoriais e Autônomas/diagnóstico por imagem , Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia , Humanos , Masculino , Condução Nervosa/genética , Fosforilação/genética , Transfecção , Adulto JovemRESUMO
Magnetic resonance (MR) measurements of brainstem structures have been reported to be useful in differentiating patients with progressive supranuclear palsy (PSP) from those with Parkinson's disease (PD). The aim of this study was to determine whether quantitative measurements of brainstem structures on MR images can help differentiate vascular parkinsonism (VaP) from degenerative parkinsonism (PD and PSP). Areas of the midbrain and pons, and widths of the superior cerebellar peduncle (SCP) and middle cerebellar peduncle (MCP) were measured in 62 patients with PD, 25 patients with PSP (11 probable and 14 possible), and 24 patients with VaP on T 1-weighted MR images. The midbrain-to-pons area ratio (M/P ratio), MCP-to-SCP width ratio (MCP/SCP ratio), and MR parkinsonism index (MRPI; P/M × MCP/SCP) were calculated. The midbrain area and M/P ratio of patients with VaP (104 and 0.22 mm2, respectively) were smaller than those in patients with PD (121 and 0.24 mm2, respectively) and larger than those in patients with PSP (90 and 0.19 mm2, respectively). The MRPI was significantly larger in patients with PSP (13.6) in comparison with those with PD (10.1) and VaP (10.7). However, the MRPI of patients with VaP was not significantly different from patients with PD. Our study showed that MRPI was useful in differentiating PSP from VaP or PD. Thus, MR imaging measurements of brainstem structures may help differentiate patients with VaP from those with PD and PSP.
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Tronco Encefálico/diagnóstico por imagem , Imageamento por Ressonância Magnética , Transtornos Parkinsonianos/diagnóstico por imagem , Paralisia Supranuclear Progressiva/diagnóstico por imagem , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Imageamento por Ressonância Magnética/métodos , Masculino , Tamanho do ÓrgãoRESUMO
PURPOSE: The aim of this study was to develop a Korean version of the Stigma Scale for Chronic Illness 8-items (SSCI-8) and then assess its reliability and construct validity among patients with neurological conditions. METHOD: Patients diagnosed with stroke, Parkinson's disease, epilepsy, multiple sclerosis, myasthenia gravis, and amyotrophic lateral sclerosis were recruited. Reliability was assessed for internal consistency with Cronbach's alpha coefficient. Exploratory factor analysis (EFA) was used to extract potential factors of Korean SSCI-8. Convergent validity was assessed by correlating scores on the Korean SSCI-8 with scores for depression using the Beck Depression Inventory, anxiety using Spielberger's State-Trait Anxiety Inventory, and functional ability using the Korean modified Barthel Index (K-MBI), respectively. RESULTS: Of the total 202 patients enrolled in this study, 119 (58.9 %) were recruited with stroke, 33 (16.3 %) with Parkinson's disease, and 29 (14.4 %) with epilepsy. The Korean SSCI-8 had a high internal consistency (Cronbach's alpha = 0.90). The Korean SSCI-8 retrieved one factor from eight items by the EFA, and all factor loading scores were above 0.70 (0.71-0.84). The Korean SSCI-8 was correlated positively with depression (r = 0.74, p < 0.001) and anxiety (r = 0.61, p < 0.001), and negatively with the K-MBI (r = -0.48, p < 0.001). CONCLUSION: This study shows that the Korean SSCI-8 is a unidimensional model, even though it includes items of both enacted and internalized stigma. It is both reliable and valid for assessing stigma among Korean patients with neurological disease.
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Doenças do Sistema Nervoso/diagnóstico , Escalas de Graduação Psiquiátrica , Estigma Social , Idoso , Ansiedade/diagnóstico , Doença Crônica , Depressão/diagnóstico , Análise Fatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Inquéritos e QuestionáriosRESUMO
BACKGROUND AND PURPOSE: Time-dependent changes in individual platelet reactivity have been detected in patients with coronary artery disease. Therefore, we sought to evaluate the time-dependent changes in platelet reactivity to aspirin during the acute stage after ischemic stroke and the clinical implications of variable patient responses to aspirin in acute ischemic stroke. METHODS: We conducted a single-center, prospective, observational study. The acute aspirin reaction unit (ARU) was measured after 3 hours of aspirin loading, with higher values indicating increased platelet reactivity despite aspirin therapy. The follow-up ARU was measured on the fifth day of consecutive aspirin intake. The numeric difference between the follow-up ARU and the acute ARU was defined as ΔARU and was stratified into quartiles. Early neurological deterioration was regarded as an early clinical outcome. RESULTS: Both the acute ARU (476±69 IU) and the follow-up ARU (451±68 IU) were measured in 349 patients in this study. Early neurological deterioration was observed in 72 patients (20.6%). Changes in aspirin platelet reactivity over time showed an approximately Gaussian distribution. The highest ΔARU quartile was independently associated with early neurological deterioration (odds ratio, 3.19; 95% confidence interval, 1.43-7.10; P=0.005) by multivariate logistic regression analysis. CONCLUSIONS: The results of our study showed that the increase in platelet reactivity to aspirin over time is independently associated with early neurological deterioration in patients with acute ischemic stroke. In addition, during the acute stage of ischemic stroke, serial platelet reactivity assays may be more useful than a single assay for identifying the clinical implications of aspirin platelet reactivity after ischemic stroke.
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Aspirina/farmacologia , Plaquetas/efeitos dos fármacos , Isquemia Encefálica/tratamento farmacológico , Inibidores da Agregação Plaquetária/farmacologia , Acidente Vascular Cerebral/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Aspirina/administração & dosagem , Feminino , Seguimentos , Humanos , Individualidade , Masculino , Pessoa de Meia-Idade , Inibidores da Agregação Plaquetária/administração & dosagem , Testes de Função Plaquetária , Resultado do TratamentoRESUMO
Zebrafish models have recently been highlighted as a valuable tool in studying the molecular basis of neuromuscular diseases and developing new pharmacological treatments. Needle electromyography (EMG) is needed not only for validating transgenic zebrafish models with muscular dystrophies (MD), but also for assessing the efficacy of therapeutics. However, performing needle EMG on larval zebrafish has not been feasible due to the lack of proper EMG sensors and systems for such small animals. We introduce a new type of EMG needle electrode to measure intramuscular activities of larval zebrafish, together with a method to hold the animal in position during EMG, without anesthetization. The silicon-based needle electrode was found to be sufficiently strong and sharp to penetrate the skin and muscles of zebrafish larvae, and its shape and performance did not change after multiple insertions. With the use of the proposed needle electrode and measurement system, EMG was successfully performed on zebrafish at 30 days postfertilization (dpf) and at 5 dpf. Burst patterns and spike morphology of the recorded EMG signals were analyzed. The measured single spikes were triphasic with an initial positive deflection, which is typical for motor unit action potentials, with durations of â¼10 ms, whereas the muscle activity was silent during the anesthetized condition. These findings confirmed the capability of this system of detecting EMG signals from very small animals such as 5 dpf zebrafish. The developed EMG sensor and system are expected to become a helpful tool in validating zebrafish MD models and further developing therapeutics.
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Eletromiografia/métodos , Ensaios de Triagem em Larga Escala/métodos , Potenciais de Ação , Animais , Descoberta de Drogas/métodos , Eletrodos , Eletromiografia/instrumentação , Ensaios de Triagem em Larga Escala/instrumentação , Músculo Esquelético/fisiologia , Peixe-ZebraRESUMO
BACKGROUND: Essential tremor (ET) and Parkinson's disease (PD) are common neurological disorders in elderly people, and some features of ET and PD may overlap. Quantitative analysis of brain atrophy may be useful in differentiating neurodegenerative disorders. The aim of this study was to identify the volumetric differences of subcortical structures in patients with ET and PD tremor using an automated segmentation method. METHODS: Volumetric MRIs were obtained in 45 patients with ET, 45 patients with PD tremor, and 45 age- and sex-matched control subjects. The volume of the different brain structures was measured by the automated segmentation method (FreeSurfer). RESULTS: Volumetric data obtained with automated segmentation of cerebral regions showed a significant atrophy of the cerebellum in patients with ET. Cerebellar atrophy of ET patients was more significant in the white matter than in the grey matter, and it was noted only in patients with ET having a head tremor. No volumetric differences were found between the PD group and the control group. CONCLUSION: Our study suggests that volumetric differences in subcortical structures using whole brain segmentation method may help to differentiate ET from PD tremor.
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Tremor Essencial/diagnóstico , Interpretação de Imagem Assistida por Computador/métodos , Doença de Parkinson/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Atrofia/patologia , Encéfalo/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-IdadeAssuntos
Nistagmo Patológico/etiologia , Núcleo Olivar/patologia , Tremor/etiologia , Humanos , Hipertrofia/complicações , Hipertrofia/patologia , Hipertrofia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Nistagmo Patológico/patologia , Nistagmo Patológico/fisiopatologia , Núcleo Olivar/fisiopatologia , Tremor/patologia , Tremor/fisiopatologiaRESUMO
BACKGROUND: Alterations in thyroid hormone (TH) levels may be related to the pathogenesis of mild cognitive impairment (MCI) and dementia. Cognitive deficits are common in Parkinson's disease (PD) patients. The aim of this study was to investigate whether variations within the normal ranges of thyroid function are related to cognitive function in early PD without dementia. METHODS: Eighty-four euthyroid patients with early PD underwent evaluation of their thyroid status, including measures of thyroid-stimulating hormone (TSH), total triiodothyronine (tT3) and free thyroxine (fT4), and comprehensive neuropsychological tests. RESULTS: The 46 patients of the PD-MCI group did not differ in the serum levels of TH compared to the 38 patients of the PD-normal cognition group. fT4 levels were inversely associated with the Mini-Mental State Examination (MMSE) score and neuropsychological tests of attention and visuospatial and executive function. TSH and tT3 levels were not related to cognitive performances. After controlling for demographic and clinical variables, multiple regression analyses indicated statistically significant associations between fT4 concentrations and MMSE score and neuropsychological tests of executive function. CONCLUSIONS: This study supports a relationship between the thyroid status and cognitive function in euthyroid early PD patients, with higher concentrations of fT4 being associated with a poor performance of executive function.
Assuntos
Disfunção Cognitiva/sangue , Doença de Parkinson/sangue , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangue , Idoso , Cognição , Disfunção Cognitiva/psicologia , Função Executiva , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Doença de Parkinson/psicologia , Testes de Função TireóideaRESUMO
BACKGROUND: Myasthenic crisis can be occasionally a complication after surgery for thymomatous myasthenia gravis (T-MG). AIMS: The purpose of this study was to investigate the influence of thymectomy on the subsequent clinical course of T-MG. STUDY DESIGN: Retrospective study. MATERIALS AND METHODS: Only T-MG patients with at least 36 months of follow-up after transsternal thymectomy for thymoma was screened, and those with successfully weaned from a ventilator after surgery were included in the study. RESULTS: Forty-eight T-MG patients were enrolled during the study period. Myasthenic crisis after thymectomy (MCAT) occurred in 12 (25%) patients with T-MG. Eight (67%) patients with MCAT experienced respiratory failure within the first 1 and 2 years after disease onset. The ratio of measured forced vital capacity (mFVC) to the predicted FVC (pFVC) preoperatively was the only independent factor affecting the occurrence of MCAT (odds ratio, 0.916; 95% confidence interval [CI], 0.867-0.967; P = 0.002). The area under the curve of the receiver operating characteristic for mFVC/pFVC was 0.881 (95% CI 0.754-0.956, P < 0.001), with sensitivity, specificity, and positive and negative predictive values of 58.3%, 97.2%, 87.5%, and 90%, respectively, at a threshold of ≤65% of mFVC/pFVC. CONCLUSIONS: MCAT may occur in patients with T-MG after thymectomy especially within 2 years after disease onset. Preoperative mFVC/pFVC is strongly associated with the occurrence of MCAT postoperatively.
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Miastenia Gravis/etiologia , Miastenia Gravis/cirurgia , Timectomia/efeitos adversos , Timoma/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/complicações , Estudos Retrospectivos , Timoma/complicações , Resultado do TratamentoRESUMO
PURPOSE: Nerve conduction study (NCS) is essential for subclassifying Guillain-Barré syndrome (GBS). It is well known that the GBS subclassification can change through serial NCSs. However, the usefulness of serial NCSs is debatable, especially in patients with early stage GBS. METHODS: Follow-up NCS data within 3 weeks (early followed NCS, EFN) and within 3 to 10 weeks (late-followed NCS, LFN) were collected from 60 patients with GBS who underwent their first NCS (FN) within 10 days after symptom onset. Each NCS was classified into five subtypes (normal, demyelinating, axonal, inexcitable, and equivocal), according to Hadden's and Rajabally's criteria. We analyzed the frequency of significant changes in classification (SCCs) comprising electrodiagnostic aggravation and subtype shifts between demyelinating and axonal types according to follow-up timing. RESULTS: Between FN and EFN, 33.3% of patients with Hadden's criteria and 18.3% with Rajabally's criteria showed SCCs. Between FN and LFN, 23.3% of patients with Hadden's criteria and 21.7% with Rajabally's criteria showed SCCs, of which 71.4% (Hadden's criteria) and 46.2% (Rajabally's criteria) already showed SCCs from the EFN. The conditions of delayed SCCs between EFN and LFN were very early FN, mild symptoms at the FN, or persistent electrophysiological deterioration 3 weeks after symptom onset. CONCLUSIONS: A substantial proportion of patients with GBS showed significant changes in neurophysiological classification at the early stage. Serial NCS may be helpful for precise neurophysiological classification. This study suggests that follow-up NCSs should be performed within 3 weeks of symptom onset in patients with GBS in whom FN was performed within 10 days of symptom onset.
Assuntos
Síndrome de Guillain-Barré , Zinostatina , Humanos , Síndrome de Guillain-Barré/diagnóstico , Estudos de Condução Nervosa , NeurofisiologiaRESUMO
Importance: A proportion of people with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) have a relapsing disease course and persistent anti-myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) seropositivity. Few studies have investigated whether treatment of the first MOGAD attack is associated with the long-term disease course and/or MOG-IgG seronegative conversion. Objective: To investigate the association of time to treat the first acute MOGAD attack with relapse risk and MOG-IgG serostatus. Design, Setting, and Participants: This was a retrospective, nationwide, multicenter cohort study involving 14 secondary or tertiary hospitals in South Korea between November 2009 and August 2023. People with adult-onset MOGAD, who either had a relapse or were followed up for more than 12 months after disease onset and had a detailed medical record of their first attack, were included. Individuals were excluded for adolescent-onset MOGAD or short disease duration. Exposures: Patients were categorized based on the time to treat the first acute MOGAD attack: early (<5 days), intermediate (5-14 days), and late (not treated within 14 days). Main Outcomes and Measures: A multivariable analysis for clinical and treatment factors associated with relapsing disease course and/or MOG-IgG seronegative conversion. Further subgroup analyses were conducted among those without long-term nonsteroidal immunosuppressant (NSIS) maintenance treatment. Results: Among the 315 individuals screened, 75 were excluded. A total of 240 patients (median [IQR] age at onset, 40.4 [28.8-56.1] years; 125 female [52.1%]) with median (IQR) disease duration of 3.07 (1.95-6.15) years were included. A total of 110 of 240 patients (45.8%) relapsed after a median (IQR) of 0.45 (0.18-1.68) years, and 29 of 116 patients (25.0%) experienced a conversion to seronegative MOG-IgG. Both the time to treatment of the first MOGAD attack (late vs early: adjusted hazard ratio [aHR], 2.64; 95% CI, 1.43-4.84; P = .002; intermediate vs early: aHR, 2.02; 95% CI, 1.10-3.74; P = .02) and NSIS maintenance treatment (aHR, 0.24; 95% CI, 0.14-0.42; P < .001) were independently associated with the risk of relapse. In a subgroup without NSIS maintenance, the time to treat of the first MOGAD attack was still associated with higher risk of relapse (late vs early: aHR, 3.51; 95% CI, 1.64-7.50; P = .001; intermediate vs early: aHR, 2.68; 95% CI, 1.23-5.85; P = .01). Lastly, the time to treat of the first MOGAD attack was also associated with MOG-IgG seronegative conversion (early vs late: adjusted odds ratio, 7.04; 95% CI, 1.58-31.41; P = .01), whereas NSIS maintenance treatment was not. Conclusions and Relevance: Results of this cohort study suggest that early treatment of the first acute MOGAD attack was associated with a reduction in the proportion of relapsing disease course and an increase in the likelihood of MOG-IgG seronegative conversion. These data suggest that timing of acute phase treatment for the first MOGAD attack can be associated with the long-term prognosis and autoimmune status of patients.
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The aim of this study was to assess and validate the Korean version of the Boston Carpal Tunnel Questionnaire (K-BCTQ) in patients with carpal tunnel syndrome (CTS). After translation and cultural adaptation of the BCTQ to a Korean version, the K-BCTQ was administered to 54 patients with CTS; it was administered again after 2 weeks to assess reliability. Additionally, we administered K-DASH and EQ-5D to assess construct-validity. In a prospective study of responsiveness to clinical change, 29 of 54 patients were treated by ultrasonography-guided local corticosteroid injection therapy. The internal consistency of the K-BCTQ was high (Cronbach's alpha: 0.915) and the intra-class correlation coefficients were 0.931 for the symptom severity scale (P<0.001) and 0.844 for the functional severity scale (P<0.001). The construct-validity between the symptom severity scale and the K-DASH, and between the functional severity scale and the K-DASH were significantly correlated (both P<0.001). Clinical improvement was noted in 29 patients with injection therapy. The effect size of symptom severity was 0.67, and that of functional severity was 0.58. In conclusion, the K-BCTQ shows good reliability, construct-validity, and acceptable responsiveness after local corticosteroid injection therapy (Clinical trial number, KCT0000050).
Assuntos
Corticosteroides/administração & dosagem , Síndrome do Túnel Carpal/tratamento farmacológico , Inquéritos e Questionários , Triancinolona Acetonida/administração & dosagem , Avaliação da Deficiência , Humanos , Injeções , Avaliação de Resultados em Cuidados de Saúde , Estudos Prospectivos , República da Coreia , Índice de Gravidade de Doença , UltrassonografiaRESUMO
The diagnosis of spinocerebellar ataxia (SCA) currently depends upon genetic testing. Although genetic testing for SCA is highly specific, clinical parameters for the differentiation of SCAs are still insufficient. We aimed to assess the vestibulo-ocular reflex (VOR) parameters of various SCA subtypes to determine whether they have substantial value in differential diagnosis. We consecutively enrolled 33 genetically confirmed SCA patients (SCA2 = 8, SCA3 = 6, SCA6 = 10, SCA7 = 9). Normative data were obtained from 36 age- and gender-matched healthy controls. Quantitative indicators of VOR were measured using video head impulse test (HIT) and combined ocular motor dysfunctions were investigated using video-oculography. Compared with the control group, the VOR gains in SCA2 were relatively spared, but were markedly decreased for all six canals in SCA3. The VOR gains for the posterior canals (PCs) were significantly decreased in SCA6, and for both vertical canals were decreased in SCA7. The VOR gains for the horizontal canals in SCA3 were negatively correlated with disease severity (R = -0.900, p = 0.037). Abnormal catch-up saccades were common in SCA3 and SCA6, rare in SCA7 and absent in SCA2. Spontaneous, headshaking-induced, and positional nystagmus were only documented in SCA6. SCA3 and SCA6 commonly showed horizontal gaze-evoked nystagmus, but SCA2 and SCA7 had characteristic saccadic slowing without gaze-evoked nystagmus. VOR impairments are common in SCAs, but their patterns vary depending on subtype. In addition to ocular motor characteristics, distinctive VOR performance for each subtype using video HIT may aid the differential diagnosis of the SCA genotypes.
Assuntos
Parada Cardíaca , Nistagmo Patológico , Ataxias Espinocerebelares , Humanos , Reflexo Vestíbulo-Ocular , Movimentos Oculares , Olho , Artéria Basilar , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genéticaRESUMO
Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for glial fibrillary acidic protein. AxD is divided into two clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal symptoms and occurs in the second decade of life or later, and its radiologic features include tadpole-like appearance of the brainstem, ventricular garlands, and pial signal changes along the brainstem. Recently, eye-spot signs in the anterior medulla oblongata (MO) have been reported in patients with elderly-onset AxD. In this case, an 82-year-old woman presented with mild gait disturbance and urinary incontinence without bulbar symptoms. The patient died 3 years after symptom onset as a result of rapid neurological deterioration after a minor head injury. MRI showed signal abnormalities resembling angel wings in the middle portion of the MO along with hydromyelia of the cervicomedullary junction. Herein, we report the case of this patient with older adult-onset AxD with an atypical clinical course and distinctive MRI findings.