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Background@#and Purpose Anti-neurofascin-155 (NF155) antibody is one of the autoantibodies associated with autoimmune nodopathy. We aimed to determine the clinical features of South Korean patients with anti-NF155-antibody-positive autoimmune nodopathy. @*Methods@#The sera of 68 patients who fulfilled the diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP) were tested for anti-NF155 antibodies using a cellbased assay (CBA) and enzyme-linked immunosorbent assay (ELISA). The anti-NF155-positive sera were also assayed for NF155 immunoglobulin G (IgG) subclasses, and for antiNF186 and NF140 antibodies. The clinical features of the patients were reviewed retrospectively. @*Results@#Among the 68 patients, 6 (8.8%) were positive for anti-NF155 antibodies in both the CBA and ELISA. One of those six patients was also positive for anti-NF186 and anti-NF140 antibodies. IgG4 was the predominant subclass in four patients. The mean age at onset was 32.2 years. All six positive patients presented with progressive sensory ataxia. Five patients treated using corticosteroids presented a partial or no response. All six patients were treated using intravenous immunoglobulin (IVIg). Among them, five exhibited a partial or poor response and the other exhibited a good response. All three patients treated using rituximab showed a good response. @*Conclusions@#The clinical characteristics of the patients were consistent with those in previous studies. Anti-NF155 antibody assay is necessary for diagnosing autoimmune nodopathy and its appropriate treatment, especially in young patients with CIDP who present with sensory ataxia and poor therapeutic responses to corticosteroids and IVIg.
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Background@#The clinical implications of myelin oligodendrocyte glycoprotein autoantibodies (MOG-Abs) are increasing. Establishing MOG-Ab assays is essential for effectively treating patients with MOG-Abs. We established an in-house cell-based assay (CBA) to detect MOG-Abs to identify correlations with patients’ clinical characteristics. @*Methods@#We established the CBA using HEK 293 cells transiently overexpressing fulllength human MOG, tested it against 166 samples from a multicenter registry of central nervous system (CNS) inflammatory disorders, and compared the results with those of the Oxford MOG-Ab-based CBA and a commercial MOG-Ab CBA kit. We recruited additional patients with MOG-Abs and compared the clinical characteristics of MOG-Ab-associated disease (MOGAD) with those of neuromyelitis optica spectrum disorder (NMOSD). @*Results@#Of 166 samples tested, 10 tested positive for MOG-Abs, with optic neuritis (ON) being the most common manifestation (4/15, 26.7%). The in-house and Oxford MOG-Ab CBAs agreed for 164/166 (98.8%) samples (κ = 0.883, P < 0.001); two patients (2/166, 1.2%) were only positive in our in-house CBA, and the CBA scores of the two laboratories correlated well (r = 0.663, P < 0.001). The commercial MOG-Ab CBA kit showed one falsenegative and three false-positive results. The clinical presentation at disease onset differed between MOGAD and NMOSD; ON was the most frequent manifestation in MOGAD, and transverse myelitis was most frequent in NMOSD. @*Conclusions@#The in-house CBA for MOG-Abs demonstrated reliable results and can potentially be used to evaluate CNS inflammatory disorders. A comprehensive, long-term study with a large patient population would clarify the clinical significance of MOG-Abs.
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Rare diseases are predominantly genetic or inherited, and patients with these conditions frequently exhibit neurological symptoms. Diagnosing and treating many rare diseases is a complex challenge, and their low prevalence complicates the performance of research, which in turn hinders the advancement of therapeutic options. One strategy to address this issue is the creation of national or international registries for rare diseases, which can help researchers monitor and investigate their natural progression. In the Republic of Korea, we established a registry across 5 centers that focuses on 3 rare diseases, all of which are characterized by gait disturbances resulting from motor system dysfunction. The registry will collect clinical information and human bioresources from patients with amyotrophic lateral sclerosis, spinocerebellar ataxia, and hereditary spastic paraplegia. These resources will be stored at ICreaT and the National Biobank of Korea. Once the registry is complete, the data will be made publicly available for further research. Through this registry, our research team is dedicated to identifying genetic variants that are specific to Korean patients, uncovering biomarkers that show a strong correlation with clinical symptoms, and leveraging this information for early diagnosis and the development of treatments.
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Background@#and Purpose Hereditary spastic paraplegia (HSP) progresses over time and is associated with locomotive dysfunction. Understanding the factors affecting disease severity and locomotive function is important in HSP. This study investigated the factors influencing disease severity and ambulation status of HSP. @*Methods@#We consecutively enrolled 109 Korean patients (64 males, and 45 females)from 84 families with a clinical diagnosis of HSP. HSP was primarily diagnosed based on clinical criteria including clinical findings, family history, and supported by genetic studies. Epidemiological and clinical features of the patients were analyzed, and the Spastic Paraplegia Rating Scale (SPRS) score and ambulatory status were used to evaluate disease severity. @*Results@#Ninety-two (84.4%) patients had pure HSP, and 55 (50.4%) had a dominant family history. Thirty-one (28.4%) patients required a mobility aid for locomotion. A Kaplan-Meier analysis showed that HSP patients lost their independent gait ability after a median disease duration of 34 years. Those with an age at onset of ≤18 years had a longer median independent walking time. Pure HSP is characterized by predominant bilateral lower extremity weakness and spasticity, whereas complicated HSP presents more complex neurological findings such as ocular and bulbar symptoms, ataxia, and cognitive impairment. Complicated HSP was significantly correlated with the SPRS mobility score (β=3.70, 95% confidence interval=0.45–6.94). The age at onset and disease duration were significantly correlated with disease severity, and they were significant predictors of the use of a mobility aid (p<0.05). @*Conclusions@#These findings suggest that a later age at onset and longer disease duration are significant factors affecting the disease severity and ambulatory function in patients with HSP. These findings can help clinicians to identify subjects at risk of locomotive impairment.
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Objective@#: This retrospective study investigated the clinical and angiographic characteristics of ruptured true posterior communicating artery (PCoA) aneurysms in comparison with junctional PCoA aneurysms presenting with a subarachnoid hemorrhage. @*Methods@#: The medical records and radiological data of 93 consecutive patients who underwent three-dimensional rotational angiography and surgical or endovascular treatment for a ruptured junctional or true PCoA aneurysm over an 8-year period were examined. @*Results@#: The maximum diameter of the ruptured true PCoA aneurysm (n=13, 14.0%) was significantly smaller than that of the ruptured junctional PCoA aneurysms (n=80, 4.45±1.44 vs. 7.68±3.36 mm, p=0.001). In particular, the incidence of very small aneurysms <4 mm was 46.2% (six of 13 patients) in the ruptured true PCoA aneurysm group, yet only 2.5% (two of 80 patients) in the ruptured junctional PCoA aneurysm group. Meanwhile, the diameter of the PCoA was significantly larger in the true PCoA aneurysm group than that in the junctional PCoA aneurysm group (1.90±0.57 vs. 1.15±0.49 mm, p<0.001). In addition, the ipsilateral PCoA/P1 ratio was significantly larger in the true PCoA aneurysm group than that in the group of a junctional PCoA aneurysm (mean PCoA/P1 ratio±standard deviation, 2.67±1.22 vs. 1.14±0.88; p<0.001). No between-group difference was identified for the modified Fisher grade, clinical grade at admission, and 3-month modified Rankin Scale score. @*Conclusion@#: A true PCoA aneurysm was found to be associated with a larger PCoA and ruptured at a smaller diameter than a junctional PCoA aneurysm. In particular, the incidence of a ruptured aneurysm with a very small diameter <4 mm was significantly higher among the patients with a true PCoA aneurysm.
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Background@#and Purpose Neuromyelitis optica spectrum disorder (NMOSD) is a rare demyelinating disease of the central nervous system (CNS). We investigated the medical behaviors of experts in Korea when they are diagnosing and treating NMOSD. @*Methods@#An anonymous questionnaire on the diagnosis and treatment of NMOSD was distributed to experts in CNS demyelinating diseases. @*Results@#Most respondents used the 2015 diagnostic criteria for NMOSD and applied a cerebrospinal fluid examination, magnetic resonance imaging (MRI) of the brain and spine, and anti-aquaporin-4 antibody testing to all suspected cases of NMOSD. All respondents prescribed steroid pulse therapy as an first-line therapy in the acute phase of NMOSD, and 67% prescribed azathioprine for maintenance therapy in NMOSD. However, details regarding monitoring, the tapering period of oral steroids, second-line therapy use in refractory cases, management during pregnancy, and schedule of follow-up MRI differed according to the circumstances of individual patients. We analyzed the differences in response rates between two groups of respondents according to the annual number of NMOSD patients that they treated.The group that had been treating ≥10 NMOSD patients annually preferred rituximab more often as the second-line therapy (p=0.011) and had more experience with rituximab treatment (p=0.015) compared with the group that had been treating <10 NMOSD patients. @*Conclusions@#This study has revealed that NMOSD experts in Korea principally follow the available treatment guidelines. However, the differences in specific clinical practices applied to uncertain cases that have been revealed will need to be investigated further in order to formulate suitable recommendations.
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Neuropathic pain caused by a lesion or disease of the somatosensory nervous system is underdiagnosed and difficult to treat. Questionnaires based on self-reported symptoms have improved diagnosis and management of neuropathic pain. Visual analog scale and numeric rating scale are most well-known unidimensional pain questionnaires. Multidimensional questionnaire or specialized questionnaire for neuropathic pain are more useful to diagnose neuropathic pain. Screening questionnaires help to identify neuropathic pain easily, and assessment questionnaires make it possible to create phenotypic profiles of neuropathic pain and determine an efficacy of management.
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Neuropathic pain caused by a lesion or disease of the somatosensory nervous system is underdiagnosed and difficult to treat. Questionnaires based on self-reported symptoms have improved diagnosis and management of neuropathic pain. Visual analog scale and numeric rating scale are most well-known unidimensional pain questionnaires. Multidimensional questionnaire or specialized questionnaire for neuropathic pain are more useful to diagnose neuropathic pain. Screening questionnaires help to identify neuropathic pain easily, and assessment questionnaires make it possible to create phenotypic profiles of neuropathic pain and determine an efficacy of management.
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Objective@#: When treating high-positioned anterior communicating artery (ACoA) aneurysms, pterional-transsylvian and interhemispheric approaches are both viable options, yet comparative studies of these two surgical approaches are rare. Accordingly, this retrospective study investigated the surgical results of both approaches. @*Methods@#: Twenty-four patients underwent a pterional approach (n=11) or interhemispheric approach (n=13), including a unilateral low anterior interhemispheric approach or bifrontal interhemispheric approach, for high-positioned ACoA aneurysms with an aneurysm dome height >15 mm and aneurysm neck height >10 mm both measured from the level of the anterior clinoid process. The clinical and radiological data were reviewed to investigate the surgical results and risk factors of incomplete clipping. @*Results@#: The pterional patient group showed a significantly higher incidence of incomplete clipping than the interhemispheric patient group (p=0.031). Four patients (36.4%) who underwent a pterional approach showed a postclipping aneurysm remnant, whereas all the patients who experienced an interhemispheric approach showed complete clipping. In one case, the aneurysm remnant was obliterated by coiling, while follow-up of the other three cases showed the remnants remained limited to the aneurysm base. A multivariate analysis revealed that a pterional approach for a large aneurysm with a diameter >8 mm presented a statistically significant risk factor for incomplete clipping. @*Conclusion@#: For high-positioned ACoA aneurysms with a dome height >15 mm and neck height >10 mm above the level of the anterior clinoid process, a large aneurysm with a diameter >8 mm can be clipped more completely via an interhemispheric approach than via a pterional approach.
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Objective@#: When treating high-positioned anterior communicating artery (ACoA) aneurysms, pterional-transsylvian and interhemispheric approaches are both viable options, yet comparative studies of these two surgical approaches are rare. Accordingly, this retrospective study investigated the surgical results of both approaches. @*Methods@#: Twenty-four patients underwent a pterional approach (n=11) or interhemispheric approach (n=13), including a unilateral low anterior interhemispheric approach or bifrontal interhemispheric approach, for high-positioned ACoA aneurysms with an aneurysm dome height >15 mm and aneurysm neck height >10 mm both measured from the level of the anterior clinoid process. The clinical and radiological data were reviewed to investigate the surgical results and risk factors of incomplete clipping. @*Results@#: The pterional patient group showed a significantly higher incidence of incomplete clipping than the interhemispheric patient group (p=0.031). Four patients (36.4%) who underwent a pterional approach showed a postclipping aneurysm remnant, whereas all the patients who experienced an interhemispheric approach showed complete clipping. In one case, the aneurysm remnant was obliterated by coiling, while follow-up of the other three cases showed the remnants remained limited to the aneurysm base. A multivariate analysis revealed that a pterional approach for a large aneurysm with a diameter >8 mm presented a statistically significant risk factor for incomplete clipping. @*Conclusion@#: For high-positioned ACoA aneurysms with a dome height >15 mm and neck height >10 mm above the level of the anterior clinoid process, a large aneurysm with a diameter >8 mm can be clipped more completely via an interhemispheric approach than via a pterional approach.
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Background@#Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. @*Methods@#From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. @*Results@#Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. @*Conclusions@#This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.
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Background@#Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. @*Methods@#From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. @*Results@#Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. @*Conclusions@#This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.
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Background@#Although neuromyelitis optica spectrum disorder (NMOSD) is known to be a rare disease, its prevalence and incidence have not yet been studied in Korea. We performed a population-based study to examine the prevalence and incidence of NMOSD in Korea using data from the Korean National Health Insurance (NHI) claims database. @*Methods@#Data from 2013 to 2017 were obtained, with a washout period set as 2013 and 2014. The prevalence and incidence of NMOSD in 2016 and 2017 were calculated using population census data. Subjects were divided into 5 groups at 15-year intervals, depending on the age at which the diagnostic code was entered. The relative risk (RR) for each age group was compared with the oldest (≥ 60 years) age group. @*Results@#The overall prevalence was estimated to be 3.36 and 3.56 per 100,000 individuals, with an incidence of 0.41 and 0.65 per 100,000 individuals-year in 2016 and 2017, respectively. The mean age was 43.08 (standard deviation, 14.56) years, and the ratio of male to females was 1:4.7. The incidence was higher in female individuals aged between 30 and 59 years (RR, 2.8–3.05; P < 0.05). @*Conclusion@#Nationwide prevalence of NMOSD in Korea was 3.36 and 3.56/100,000 and its incidence was 0.41 and 0.65/100,000-year in 2016 and 2017 respectively.
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OBJECTIVE: The authors applied maximum external decompression for malignant hemispheric infarction and investigated the functional outcome according to the patient age.METHODS: Twenty-five patients with malignant hemispheric infarction were treated using a hemicraniectomy with maximum external decompression, comprising a larger (>14cm) hemicraniectomy, resection of the temporalis muscle and its fascia, spaciously expansive duraplasty, and approximation of the skin flap. The medical and diagnostic imaging records for the patients were reviewed, and 1-year functional outcome data obtained for the younger group (aged ≤ 60 years) and elderly group (aged > 60 years).RESULTS: The patients (n=25) who underwent maximum surgical decompression revealed a minimal mortality rate (n=2, 8.0%). The patients (n=14) in the younger group all survived with mRS scores of 2 (n=1, 7.1%), 3 (n=7, 50.0%), 4 (n=3, 21.4%), or 5 (n=3, 21.4%). A majority of the younger patients (57.1% with mRS ≤3) lived with functional independence. When the 1-year mRS scores were dichotomized between favorable (mRS ≤3) and unfavorable (mRS ≥4) outcomes, the younger group had significantly more patients with a favorable outcome than the elderly group (57.1% versus 9.1%, p=0.033). In contrast, in the elderly group, most patients showed unfavorable outcomes with the mRS scores of 4 (n=5, 45.5%), 5 (n=3, 27.3%), or 6 (n=2, 18.2%), whereas only one patient showed favorable outcome (mRS 3). A majority of the elderly patients (45.5% with mRS 4) survived with moderately severe disability.CONCLUSION: For malignant hemispheric infarction, a hemicraniectomy with maximum external decompression was found to considerably increase survival with a favorable outcome in functional independence (mRS ≤3) for younger patients aged ≤60 years. It can be optimal surgical treatment for younger patients.
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Idoso , Humanos , Infarto Cerebral , Descompressão , Descompressão Cirúrgica , Diagnóstico por Imagem , Fáscia , Infarto , Mortalidade , Pele , Resultado do TratamentoRESUMO
PURPOSE: To describe the clinical characteristics and course of optic neuritis (ON) and its association with neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) in Korea. METHODS: In this retrospective case series, 125 eyes of 91 Korean patients with ON were included. The medical documents of adult patients with ON were retrospectively reviewed. Patients were assigned into idiopathic ON, NMOSD, and MS groups according to the presence of an association with NMOSD or MS for subgroup analysis. Clinical characteristics, disease course, and visual and systemic prognosis were analyzed. RESULTS: During the mean follow-up of 3.7 years, 73 patients were diagnosed as idiopathic ON, 14 patients were diagnosed as NMOSD, and four patients developed definite MS. At the final visit, there were 13 (13%) eyes out of 100 eyes with idiopathic ON, nine (43%) eyes out of 21 eyes with NMOSD, and one (25%) eye out of four eyes with MS had a severe visual loss of 20 / 200 or less. The mean Expanded Disability Status Scale was 3.1 ± 1.5 in NMOSD and 1.8 ± 1.5 in the MS group at the final visit. In the NMOSD group, 50% of patients showed severe visual loss in at least one eye or were unable to ambulate without assistance at the final visit (5.3 ± 4.4 years after the initial episode of ON). CONCLUSIONS: Fourteen percent of patients showed positive results for NMO-immunoglobulin G test and 50% of patients with NMOSD showed a severe visual loss in at least one eye or were unable to ambulate without assistance. The proportion of MS was relatively low in Korean ON patients.
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Adulto , Humanos , Seguimentos , Coreia (Geográfico) , Esclerose Múltipla , Neuromielite Óptica , Neurite Óptica , Prognóstico , Estudos RetrospectivosRESUMO
Anti-Ma2-associated encephalitis is one of the paraneoplastic limbic and brainstem encephalitis characterized by decreased consciousness, parkinsonism and the limitation of vertical eye movement. It is usually associated with non-small cell lung cancer in male and female or germ cell tumor in male. Herein, we report a case of atypical anti-Ma2-associated encephalitis which presented with axonal sensorimotor polyneuropathy.
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Feminino , Humanos , Masculino , Autoanticorpos , Axônios , Tronco Encefálico , Carcinoma Pulmonar de Células não Pequenas , Estado de Consciência , Encefalite , Movimentos Oculares , Encefalite Límbica , Neoplasias Embrionárias de Células Germinativas , Síndromes Paraneoplásicas , Transtornos Parkinsonianos , PolineuropatiasRESUMO
BACKGROUND AND PURPOSE: Diagnosing small-fiber neuropathy (SFN) is challenging because there is no gold-standard test and few diagnostic tests. This study investigated the clinical symptom profile and its associations with the results of quantitative sensory testing (QST) and the quantitative sudomotor axon reflex test (QSART) as well as the quality of life (QOL) in patients with clinically suspected SFN. METHODS: This study involved 63 patients with clinically suspected length-dependent SFN. Assessments were performed using QST, QSART, SFN Symptoms Inventory Questionnaire, Neuropathic Pain Symptom Inventory, ‘Sirim’ frequency and ‘Sirim’ (cold) pain severity, and 36-item Short-Form Health Survey. Multiple logistic and linear regression analyses were performed to predict risk factors for QST or QSART abnormalities and QOL, respectively. RESULTS: ‘Sirim’ and ‘Sirim’ pain was the most-common (84%) and the most-severe complaint (mean score of 6.3 on a numerical rating scale ranging from 0 to 10) in patients with clinically suspected SFN. The findings of QST [cold detection threshold (CDT)] and QSART were abnormal in 71% (n=45/57) and 62% (n=39/56) of the patients, respectively. An abnormal CDT was correlated with more-severe stabbing pain (odds ratio=2.23, 95% CI=1.02–4.87, p=0.045). Restless-leg symptoms (β=−7.077) and pressure-evoked pain (β=−5.034) were independent predictors of the physical aspects of QOL. CONCLUSIONS: ‘Sirim’ pain, similar to cold pain, should be considered a major neuropathic pain in SFN. Among pain characteristics, stabbing pain of a spontaneous paroxysmal nature may be more pronounced in the setting of dysfunctional Aδ fibers with functional autonomic C fibers.
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Humanos , Axônios , Testes Diagnósticos de Rotina , Eritromelalgia , Inquéritos Epidemiológicos , Modelos Lineares , Fibras Nervosas Amielínicas , Neuralgia , Qualidade de Vida , Reflexo , Fatores de RiscoRESUMO
BACKGROUND AND PURPOSE: This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. METHODS: The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. RESULTS: The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. CONCLUSIONS: South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.
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Humanos , Neuropatias Amiloides , Amiloidose , Povo Asiático , Cardiomiopatias , Estudos Transversais , Diagnóstico , Ásia Oriental , Genótipo , Coreia (Geográfico) , Fenótipo , Pré-Albumina , Estudos Retrospectivos , ValinaRESUMO
BACKGROUND AND PURPOSE: Patients treated with interferon-beta (IFN-β) can develop neutralizing antibodies (NAbs) against IFN-β that can negatively affect the therapeutic response. This study assessed the prevalence of NAbs and the impact of NAb positivity on the therapeutic response to IFN-β in Korean patients with multiple sclerosis (MS). METHODS: This was a multicenter study involving 150 MS patients from 9 Korean medical centers who were treated with IFN-β for at least 6 months. Sera that had not been influenced by acute treatment were assessed for NAbs using a luciferase reporter gene assay. To evaluate the association between persistent positivity for NAbs and disease activity, NAbs were tested at 2 different time points in 75 of the 150 patients. Disease activity was defined as the presence of clinical exacerbations and/or active MRI lesions during a 1-year follow-up after NAb positivity was confirmed. RESULTS: NAbs were found in 39 of the 150 (26%) MS patients: 30 of the 85 (35%) who were treated with subcutaneous IFN-β-1b, 9 of the 60 (15%) who were treated with subcutaneous IFN-β-1a, and 0 of the 5 (0%) who were treated with intramuscular IFN-β-1a. Thirty of the 39 patients exhibiting NAb positivity were tested at different time points, and 20 of them exhibited persistent NAb positivity. Disease activity was observed more frequently in patients with persistent NAb positivity than in those with transient positivity or persistent negativity [16/20 (80%) vs. 4/55 (7%), respectively; p < 0.001]. When disease activity was compared between patients with persistent and transient NAb positivity, the difference was unchanged and remained statistically significant [16/20 (80%) vs. 2/10 (20%), p=0.004]. CONCLUSIONS: These results further support that persistent NAb positivity is associated with disease activity in MS patients treated with IFN-β.