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This study proposes a synthetic data generation model to create a classification framework for cerebellar ataxia patients using trajectory data from the visuomotor adaptation task. The classification objectives include patients with cerebellar ataxia, age-matched normal individuals, and young healthy subjects. Synthetic data for the three classes is generated based on class conditions and random noise by leveraging a combination of conditional adversarial generative neural networks and reconstruction networks. This synthetic data, alongside real data, is utilized as training data for the patient classification model to enhance classification accuracy. The fidelity of the synthetic data is assessed visually to measure the validity and diversity of the generated data qualitatively while quantitatively evaluating distribution similarity to real data. Furthermore, the clinical efficacy of the patient classification model employing synthetic data is demonstrated by showcasing improved classification accuracy through a comparative analysis between results obtained using solely real data and those obtained when both real and synthetic data are utilized. This methodological approach holds promise in addressing data insufficiency in the digital healthcare domain, employing deep learning methodologies, and developing early disease diagnosis tools., Competing Interests: Declarations Ethics approval and consent to participate All experimental procedures, including recruitment, were conducted in accordance with ethical guidelines and procedures approved by the Institutional Review Board of Seoul Metropolitan Government Seoul National University Boramae Medical Center (IRB no. 30-2019-88). All participants gave their written informed consent prior to participation. Consent for publication N/a. Competing interests The authors declare no competing interests., (© 2024. The Author(s).)

Purpose: To establish a deep learning artificial intelligence model to predict the risk of long-term fellow eye neovascularization in unilateral type 3 macular neovascularization (MNV)., Methods: This retrospective study included 217 patients (199 in the training/validation of the AI model and 18 in the testing set) with a diagnosis of unilateral type 3 MNV. The purpose of the AI model was to predict fellow eye neovascularization within 24 months after the initial diagnosis. The data used to train the AI model included a baseline fundus image and horizontal/vertical cross-hair scan optical coherence tomography images in the fellow eye. The neural network of this study for AI-learning was based on the visual geometry group with modification. The precision, recall, accuracy, and the area under the curve values of receiver operating characteristics (AUCROC) were calculated for the AI model. The accuracy of an experienced (examiner 1) and less experienced (examiner 2) human examiner was also evaluated., Results: The incidence of fellow eye neovascularization over 24 months was 28.6% in the training/validation set and 38.9% in the testing set (P = 0.361). In the AI model, precision was 0.562, recall was 0.714, accuracy was 0.667, and the AUCROC was 0.675. The sensitivity, specificity, and accuracy were 0.429, 0.727, and 0.611, respectively, for examiner 1, and 0.143, 0.636, and 0.444, respectively, for examiner 2., Conclusions: This is the first AI study focusing on the clinical course of type 3 MNV. While our AI model exhibited accuracy comparable to that of human examiners, overall accuracy was not high. This may partly be a result of the relatively small number of patients used for AI training, suggesting the need for future multi-center studies to improve the accuracy of the model., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Yoon et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Objective: The Scales for Outcomes in Parkinson's Disease-Cognition (SCOPA-Cog) was developed to assess cognition in patients with Parkinson's disease (PD). In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPACog (K-SCOPA-Cog)., Methods: We enrolled 129 PD patients with movement disorders from 31 clinics in South Korea. The original version of the SCOPA-Cog was translated into Korean using the translation-retranslation method. The test-retest method with an intraclass correlation coefficient (ICC) and Cronbach's alpha coefficient were used to assess reliability. Spearman's rank correlation analysis with the Montreal Cognitive Assessment-Korean version (MOCA-K) and the Korean Mini-Mental State Examination (K-MMSE) were used to assess concurrent validity., Results: The Cronbach's alpha coefficient was 0.797, and the ICC was 0.887. Spearman's rank correlation analysis revealed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively)., Conclusion: Our., Results: demonstrate that the K-SCOPA-Cog has good reliability and validity.

There is a clinically unmet need for a neuropsychological tool that reflects the pathophysiology of cognitive dysfunction in cerebellar degeneration. We investigated cognitive flexibility in degenerative cerebellar ataxia patients and aim to identify the pathophysiological correlates of cognitive dysfunction in relation to cerebellar cognitive circuits. We prospectively enrolled degenerative cerebellar ataxia patients with age-matched healthy controls who underwent 3 T 3D and resting-state functional MRI. All 56 participants were evaluated with the Scale for Assessment and Rating of Ataxia and neuropsychological tests including the Wisconsin Card Sorting Test, Trail Making Test, Montreal Cognitive Assessment and Mini-Mental State Examination. From MRI scans, we analysed the correlation of whole-brain volume and cortico-cerebellar functional connectivity with the Wisconsin Card Sorting Test performances. A total of 52 participants (29 ataxia patients and 23 healthy controls) were enrolled in this study. The Wisconsin Card Sorting Test scores (total error percentage, perseverative error percentage, non-perseverative error percentage and categories completed), Trail Making Test A and Montreal Cognitive Assessment were significantly impaired in ataxia patients ( P < 0.05) compared to age-matched healthy controls. The Wisconsin Card Sorting Test error scores showed a significant correlation with the ataxia score ( P < 0.05) controlling for age and sex. In volumetric analysis, the cerebellar right crus I, II, VIIb and VIII atrophy correlated with non-perseverative error percentage in the ataxia group. In functional connectivity analysis, the connectivity between crus I, II and VIIb of the cerebellum and bilateral superior parietal and superior temporal gyrus was significantly altered in ataxia patients. The functional connectivity between left crus II and VIIb of the cerebellum and dorsolateral prefrontal and superior frontal/parietal cortices showed a positive correlation with perseverative error percentage. The connectivity between left crus VIIb and pontine nucleus/middle cerebellar peduncle showed a significant negative correlation with non-perseverative error percentage in the ataxia group. The impaired cognitive flexibility represented by the Wisconsin Card Sorting Test was significantly impaired in degenerative cerebellar ataxia patients and correlated with disease severity. The Wisconsin Card Sorting Test performance reflects hypoactivity of the cognitive cerebellum and disrupted cortico-cerebellar connectivity in non-demented patients with degenerative cerebellar ataxia., Competing Interests: The authors report no competing interests., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Objective: This is the first prospective cohort study of Huntington's disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers., Methods: From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups., Results: Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38-65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson-Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers' demographics, blood relation, and marital and social status did not affect the burden significantly., Conclusion: HD patients' neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

Objective: To investigate neurofilament light chain (NfL), phosphorylated tau (p-Tau) and total tau (t-Tau) as plasma markers for clinical severity in Korean Huntington's disease (HD) cohort., Methods: Genetically-confirmed 67 HD patients participated from 13 referral hospitals in South Korea. The subjects were evaluated with the Unified Huntington's Disease Rating Scale (UHDRS), total motor score (TMS) and total functional capacity (TFC), Mini-Mental Status Examination (K-MMSE), Montreal Cognitive Assessment (MoCA-K), and Beck's depression inventory (K-BDI). We measured plasma NfL, p-Tau and t-Tau concentrations using single-molecule array (SIMOA) assays. Stages of HD were classified based on UHDRS-TFC score and plasma markers were analyzed for correlation with clinical severity scales., Results: Plasma NfL was elevated in both 6 premanifest and 61 full manifest HD patients compared to the reference value, which increased further from premanifest to manifest HD groups. The NfL level was not significantly correlated with UHDRS TMS or TFC scores in manifest HD patients. Plasma p-Tau was also elevated in HD patients (p = 0.038). The level was the highest in stage III-V HD (n = 30) group (post-hoc p < 0.05). The p-Tau was correlated with UHDRS TFC scores (adjusted p = 0.002). Plasma t-Tau neither differed among the groups nor associated with any clinical variables., Conclusions: This study supports plasma NfL being a biomarker for initial HD manifestation in Korean cohort, and a novel suggestion of plasma p-Tau as a potential biomarker reflecting the clinical severity in full-manifest HD., Competing Interests: Declaration of Competing Interest Authors declare that there is no conflict of interest in this work., (Copyright © 2023. Published by Elsevier B.V.)

To develop an artificial intelligence (AI) model that predicts anti-vascular endothelial growth factor (VEGF) agent-specific anatomical treatment outcomes in neovascular age-related macular degeneration (AMD), thereby assisting clinicians in selecting the most suitable anti-VEGF agent for each patient. This retrospective study included patients diagnosed with neovascular AMD who received three loading injections of either ranibizumab or aflibercept. Training was performed using optical coherence tomography (OCT) images with an attention generative adversarial network (GAN) model. To test the performance of the AI model, the sensitivity and specificity to predict the presence of retinal fluid after treatment were calculated for the AI model, an experienced (Examiner 1), and a less experienced (Examiner 2) human examiners. A total of 1684 OCT images from 842 patients (419 treated with ranibizumab and 423 treated with aflibercept) were used as the training set. Testing was performed using images from 98 patients. In patients treated with ranibizumab, the sensitivity and specificity, respectively, were 0.615 and 0.667 for the AI model, 0.385 and 0.861 for Examiner 1, and 0.231 and 0.806 for Examiner 2. In patients treated with aflibercept, the sensitivity and specificity, respectively, were 0.857 and 0.881 for the AI model, 0.429 and 0.976 for Examiner 1, and 0.429 and 0.857 for Examiner 2. In 18.5% of cases, the fluid status of synthetic posttreatment images differed between ranibizumab and aflibercept. The AI model using GAN might predict anti-VEGF agent-specific short-term treatment outcomes with relatively higher sensitivity than human examiners. Additionally, there was a difference in the efficacy in fluid resolution between the anti-VEGF agents. These results suggest the potential of AI in personalized medicine for patients with neovascular AMD., (© 2023. The Author(s).)

Importance: Until now, other than complex neurologic tests, there have been no readily accessible and reliable indicators of neurologic dysfunction among patients with Parkinson disease (PD). This study was conducted to determine the role of fundus photography as a noninvasive and readily available tool for assessing neurologic dysfunction among patients with PD using deep learning methods., Objective: To develop an algorithm that can predict Hoehn and Yahr (H-Y) scale and Unified Parkinson's Disease Rating Scale part III (UPDRS-III) score using fundus photography among patients with PD., Design, Settings, and Participants: This was a prospective decision analytical model conducted at a single tertiary-care hospital. The fundus photographs of participants with PD and participants with non-PD atypical motor abnormalities who visited the neurology department of Kangbuk Samsung Hospital from October 7, 2020, to April 30, 2021, were analyzed in this study. A convolutional neural network was developed to predict both the H-Y scale and UPDRS-III score based on fundus photography findings and participants' demographic characteristics., Main Outcomes and Measures: The area under the receiver operating characteristic curve (AUROC) was calculated for sensitivity and specificity analyses for both the internal and external validation data sets., Results: A total of 615 participants were included in the study: 266 had PD (43.3%; mean [SD] age, 70.8 [8.3] years; 134 male individuals [50.4%]), and 349 had non-PD atypical motor abnormalities (56.7%; mean [SD] age, 70.7 [7.9] years; 236 female individuals [67.6%]). For the internal validation data set, the sensitivity was 83.23% (95% CI, 82.07%-84.38%) and 82.61% (95% CI, 81.38%-83.83%) for the H-Y scale and UPDRS-III score, respectively. The specificity was 66.81% (95% CI, 64.97%-68.65%) and 65.75% (95% CI, 62.56%-68.94%) for the H-Y scale and UPDRS-III score, respectively. For the external validation data set, the sensitivity and specificity were 70.73% (95% CI, 66.30%-75.16%) and 66.66% (95% CI, 50.76%-82.25%), respectively. Lastly, the calculated AUROC and accuracy were 0.67 (95% CI, 0.55-0.79) and 70.45% (95% CI, 66.85%-74.04%), respectively., Conclusions and Relevance: This decision analytical model reveals amalgamative insights into the neurologic dysfunction among PD patients by providing information on how to apply a deep learning method to evaluate the association between the retina and brain. Study data may help clarify recent research findings regarding dopamine pathologic cascades between the retina and brain among patients with PD; however, further research is needed to expand the clinical implication of this algorithm.

Competing Interests: The authors have no competing interests to declare.

Background and Purpose: Impulse-control disorder is an important nonmotor symptom of Parkinson's disease (PD) that can lead to financial and social problems, and be related to a poor quality of life. A nationwide multicenter prospective study was performed with the aim of validating the Korean Version of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease Rating Scale (K-QUIP-RS)., Methods: The K-QUIP-RS was constructed using forward and backward translation, and pretesting of the prefinal version. PD patients on stable medical condition were recruited from 27 movement-disorder clinics. Participants were assessed using the K-QUIP-RS and evaluated for parkinsonian motor and nonmotor statuses and for PD-related quality of life using a predefined evaluation battery. The test-retest reliability of the K-QUIP-RS was assessed over an interval of 10-14 days, and correlations between the KQUIP-RS and other clinical scales were analyzed., Results: This study enrolled 136 patients. The internal consistency of the K-QUIP-RS was indicated by a Cronbach's α coefficient of 0.846, as was the test-retest reliability by a Guttman split-half coefficient of 0.808. The total K-QUIP-RS score was positively correlated with the scores for depression and motivation items on the Unified PD Rating Scale (UPDRS), Montgomery-Asberg Depression Scale, and Rapid-Eye-Movement Sleep-Behavior-Disorders Questionnaire. The total K-QUIP-RS score was also correlated with the scores on part II of the UPDRS and the PD Quality of Life-39 questionnaire, and the dopaminergic medication dose., Conclusions: The K-QUIP-RS appears to be a reliable assessment tool for impulse-control and related behavioral disturbances in the Korean PD population., Competing Interests: The authors have no potential conflicts of interest to disclose., (Copyright © 2020 Korean Neurological Association.)

Background and Purpose: This study aimed to determine the clinimetric properties of the Korean version of Parkinson's Disease Sleep Scale-2 (K-PDSS-2) and whether distinct subtypes of sleep disturbance can be empirically identified in patients with Parkinson's disease (PD) using the cross-culturally validated K-PDSS-2., Methods: The internal consistency, test-retest reliability, scale precision, and convergent validity of K-PDSS-2 were assessed in a nationwide, multicenter study of 122 patients with PD. Latent class analysis (LCA) was used to derive subgroups of patients who experienced similar patterns of sleep-related problems and nocturnal disabilities., Results: The total K-PDSS-2 score was 11.67±9.87 (mean±standard deviation) at baseline and 12.61±11.17 at the retest. Cronbach's α coefficients of the total K-PDSS-2 scores at baseline and follow-up were 0.851 and 0.880, respectively. The intraclass correlation coefficients over the 2-week study period ranged from 0.672 to 0.848. The total K-PDSS-2 score was strongly correlated with health-related quality of life measures and other corresponding nonmotor scales. LCA revealed three distinct subtypes of sleep disturbance in the study patients: "less-troubled sleepers," "PD-related nocturnal difficulties," and "disturbed sleepers.", Conclusions: K-PDSS-2 showed good clinimetric attributes in accordance with previous studies that employed the original version of the PDSS-2, therefore confirming the cross-cultural usefulness of the scale. This study has further documented the first application of an LCA approach for identifying subtypes of sleep disturbance in patients with PD., Competing Interests: The authors have no potential conflicts of interest to disclose., (Copyright © 2020 Korean Neurological Association.)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is thought to be a pure genetic form of subcortical vascular cognitive impairment (SVCI). The aim of this study was to compare white matter integrity and cortical thickness between typical CADASIL, a genetic form, and two sporadic forms of SVCI (with NOTCH3 and without NOTCH3 variants). We enrolled typical CADASIL patients (N = 11) and SVCI patients [with NOTCH3 variants (N = 15), without NOTCH3 variants (N = 101)]. To adjust the age difference, which reflects the known difference in clinical and radiologic courses between typical CADASIL patients and SVCI patients, we constructed a W-score of measurement for diffusion tensor image and cortical thickness. Typical CADASIL patients showed more frequent white matter hyperintensities in the bilateral posterior temporal region compared to SVCI patients (p < 0.001, uncorrected). We found that SVCI patients, regardless of the presence of NOTCH3 variants, showed significantly greater microstructural alterations (W-score, p < 0.05, FWE-corrected) and cortical thinning (W-score, p < 0.05, FDR-corrected) than typical CADASIL patients. In this study, typical CADASIL and SVCI showed distinct anatomic vulnerabilities in the cortical and subcortical structures. However, there was no difference between SVCI with NOTCH3 variants and SVCI without NOTCH3 variants.

Introduction: Impulse control disorder (ICD) in Parkinson's disease (PD) is a critical nonmotor symptom with personality or neuropsychiatric traits contributing to ICD., Objective: This study aimed to identify predictive traits for persistent or paradoxical aggravation of ICD after dopamine agonist substitution therapy for ICD in PD., Methods: We conducted a case-control study using a database of a multicenter intervention trial for ICD in PD. The poor-outcome group was defined by showing paradoxical increases in ICD behaviors after the substitution of dopamine agonists with levodopa. We analyzed the pre-intervention personality traits associated with the poor outcome and also evaluated the risk traits for refractory ICD using a receiver-operating characteristic (ROC) curve analysis., Results: The poor-outcome group showed higher levels of anger expression (p =0.007) and obsessive-compulsive traits (p =0.009) compared with the good-outcome group at the pre-intervention state. In the ROC curve analysis, the Obsessive-Compulsive Inventory showed the highest area under the curve with 80.0% sensitivity and 74.3% specificity in discriminating against the poor-outcome group., Conclusions: Our results suggest that assessment of obsessive compulsiveness may be useful for predicting the refractoriness of ICD behaviors in planning an interventional treatment for ICD in PD., (© 2020 The Author(s) Published by S. Karger AG, Basel.)

Objective: In this multicentre open-label trial, we compared behavioural and neuropsychiatric symptoms in Parkinson's disease (PD) patients with impulse control disorders (ICD) treated with dopamine agonists before and 12 weeks after substituting dopamine agonists with an equivalent dose of levodopa/carbidopa slow-release formulation., Methods: Baseline characteristics of 50 PD patients with ICD were compared with those of 60 medicated and 40 drug-naive PD control groups. Neuropsychiatric trait changes in the PD-ICD group were investigated 12 weeks after the intervention. ICD behaviours were assessed via modified Minnesota Impulsive Disorders Interview (mMIDI), whereas parkinsonian severity and neuropsychiatric characters were systematically assessed with the Unified PD Rating Scale (UPDRS) and a predefined neuropsychological assessment battery., Results: At baseline, ICD patients showed higher scores in the Neuropsychiatric Inventory and anxiety, anger and obsessive-compulsive traits compared with both PD control groups. In contrast, the three PD groups showed indifference in the impulsivity scales. At 12 weeks post intervention, ICD behaviours significantly improved (p<0.001, Δ modified MIDI score=‒5.27 ± 5.75) along with the UPDRS II daily activity scores (p=0.02, Δ=‒2.07 ± 4.53). Behavioural disinhibition tended to improve (p=0.06), although no significant changes were observed in the Neuropsychiatric Inventory and personality trait scores. Dopamine agonist withdrawal syndrome developed in 5.3% of the PD-ICD group., Conclusions: This study provides class IV evidence suggesting that switching from dopamine agonists to levodopa/carbidopa slow-release formulations alleviated ICD behaviours in PD patients leading to improvement in daily activities whereas neuropsychiatric traits associated with ICD persisted after the 12-week therapy., Trial Registration Number: NCT01683253., Competing Interests: Competing interests: None declared, (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Sleep problems commonly occur in patients with Parkinson's disease (PD), and are associated with a lower quality of life. The aim of the current study was to translate the English version of the Scales for Outcomes in Parkinson's Disease-Sleep (SCOPA-S) into the Korean version of SCOPA-S (K-SCOPA-S), and to evaluate its reliability and validity for use by Korean-speaking patients with PD., Methods: In total, 136 patients with PD from 27 movement disorder centres of university-affiliated hospitals in Korea were enrolled in this study. They were assessed using SCOPA, Hoehn and Yahr Scale (HYS), Unified Parkinson's Disease Rating Scale (UPDRS), Parkinson's Disease Sleep Scale 2nd version (PDSS-2), Non-motor Symptoms Scale (NMSS), Montgomery Asberg Depression Scale (MADS), 39-item Parkinson's Disease Questionnaire (PDQ39), Neurogenic Orthostatic Hypotension Questionnaire (NOHQ), and Rapid Eye Movement Sleep Behaviour Disorder Questionnaire (RBDQ). The test-retest reliability was assessed over a time interval of 10-14 days., Results: The internal consistency (Cronbach's α-coefficients) of K-SCOPA-S was 0.88 for nighttime sleep (NS) and 0.75 for daytime sleepiness (DS). Test-retest reliability was 0.88 and 0.85 for the NS and DS, respectively. There was a moderate correlation between the NS sub-score and PDSS-2 total score. The NS and DS sub-scores of K-SCOPA-S were correlated with motor scale such as HYS, and non-motor scales such as UPDRS I, UPDRS II, MADS, NMSS, PDQ39, and NOHQ while the DS sub-score was with RBDQ., Conclusion: The K-SCOPA-S exhibited good reliability and validity for the assessment of sleep problems in the Korean patients with PD., Competing Interests: The authors have no potential conflicts of interest to disclose., (© 2018 The Korean Academy of Medical Sciences.)

Objective: Dystonia is occasionally found in patients with Parkinson's disease (PD) and atypical parkinsonisms. However, systematic comparative analysis of the association between dystonia and parkinsonism have seldom been reported. The goals of this study are to compare the clinical characteristics and distributions of dystonia between PD, multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD)., Methods: We prospectively enrolled 176 patients who presented with dystonia and parkinsonism out of 1278 patients with parkinsonism. We analyzed the clinical features of dystonia and parkinsonism., Results: The frequencies of dystonia were 11.0% in PD, 20.9% in MSA, 40.7% in PSP and 66.7% in CBD. Dystonia symptoms were most frequent in CBD and relatively more frequent in PSP and MSA (p<0.001). Moreover, multiple types of dystonia occurred most frequently in MSA (p=0.034). According to the distribution of dystonia, cranio-facial dystonia (CFD) and cervical dystonia (CD) were more frequently observed in atypical parkinsonism (p=0.001). In contrast, limb dystonia (LD) was more frequently observed in both PD and CBD, and truncal dystonia (TD) was more frequently detected in PD (p<0.001). Levodopa medication related dystonia was markedly more frequent in PD than in atypical parkinsonism (p=0.030)., Conclusions: In this long-term, observational, prospective study, we concluded that levodopa medication related LD and TD were more frequently observed in PD than in atypical parkinsonism. Conversely, levodopa medication non-related CFD and CD were more frequently observed in atypical parkinsonism, and coexisting of some types of multiple dystonia may be unique features of atypical parkinsonism. TD or multiple types of LD, might be representative of PD rather than atypical parkinsonism., (Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.)

Background and Aims: Intracranial arterial stenosis (ICAS) is one of the most common causes of stroke, especially in Asians. Hyperuricemia has been associated with an increased risk of comorbidities such as metabolic syndrome or cardiovascular diseases. However, there are few studies focusing on the association between serum uric acid (SUA) levels and asymptomatic ICAS. The aim of this study was to explore the association between SUA and the prevalence of ICAS in middle-aged Korean health screening examinees., Methods and Results: A cross-sectional study was performed on 9417 males and 7755 females who underwent a comprehensive health examination including transcranial Doppler (TCD) ultrasonography. The association of SUA and ICAS was analyzed using multivariate logistic regression. The prevalence of ICAS among the total examinee population was 3.55%. In females, the multivariate-adjusted odds ratio for ICAS was 1.52 (confidence interval 1.13-2.04) in the 3rd quartile of SUA and 1.45 (1.05-2.00) in the highest quartile, compared to the reference (P for trend 0.008). This trend was evident in all clinically relevant subgroups evaluated, including women with low inflammation status. SUA was not significantly associated with the prevalence of ICAS among males. In a sensitivity analysis, the multivariate-adjusted odds ratio of middle cerebral artery stenosis in females was 1.60 (1.09-2.37) in the highest quartile compared to the reference (P for trend 0.023)., Conclusions: Higher SUA level was associated with increased risk of ICAS among middle-aged females but not males. A further cohort study is warranted to elucidate the effect of SUA on asymptomatic ICAS., (Copyright © 2017 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.)

Objective: Autonomic symptoms are commonly observed in patients with Parkinson's disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson's disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients., Methods: For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10-14 days., Results: The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach's α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson's Disease Rating Scale part II) and quality of life [the Korean version of Parkinson's Disease Quality of Life 39 (K-PDQ39)]., Conclusion: The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life., Competing Interests: The authors have no financial conflicts of interest.

It is well known that patients with peripheral neuropathy along with autonomic involvement can also exhibit autonomic hyperactivity. There are rare cases in which these patients developed posterior reversible encephalopathy syndrome (PRES). Patients with primary Sjögren's syndrome (pSS) may be more likely to exhibit autonomic hypofunction rather than autonomic hyperfunction, which is a rare event. In the present work, we report the first known case of PRES as an initial neurological manifestation of pSS.

Background and Purpose: The objective of this study was to determine diagnostic and prognostic values of proximal radial motor conduction in acute compressive radial neuropathy., Methods: Thirty-nine consecutive cases of acute compressive radial neuropathy with radial conduction studies-including stimulation at Erb's point-performed within 14 days from clinical onset were reviewed. The radial conduction data of 39 control subjects were used as reference data., Results: Thirty-one men and eight women (age, 45.2±12.7 years, mean±SD) were enrolled. All 33 patients in whom clinical follow-up data were available experienced complete recovery, with a recovery time of 46.8±34.3 days. Partial conduction block was found frequently (17 patients) on radial conduction studies. The decrease in the compound muscle action potential area between the arm and Erb's point was an independent predictor for recovery time., Conclusions: Proximal radial motor conduction appears to be a useful method for the early detection and prediction of prognosis of acute compressive radial neuropathy.

Background: Restless legs syndrome is a common neurologic disorder, and there is increasing evidence for a dopaminergic link between Parkinson's disease and restless legs syndrome. However, most previous studies did not take into account the effects of dopaminergic medication. We conducted a nation-wide, cross-sectional study to determine the prevalence and clinical characteristics of restless legs syndrome in Korean drug-naïve Parkinson's disease patients., Methods: One hundred and fifty-one drug-naïve patients with Parkinson's disease were enrolled from 18 centers in South Korea over the course of one year. Clinical profiles of parkinsonism, restless legs syndrome, psychiatric symptoms, and laboratory data were collected. The findings of subjects with and without restless legs syndrome were compared., Results: The prevalence of restless legs syndrome in drug-naïve patients with Parkinson's disease was 16.5%. Subjects with restless legs syndrome had a higher mean Hoehn and Yahr stage and more severe limb parkinsonism, especially tremor. There was, however, no difference in iron metabolism between patients with and without restless legs syndrome. Analysis demonstrated that Beck's depression inventory score was associated with the severity of restless legs syndrome., Conclusion: Our study demonstrated an increased prevalence of restless leg syndrome in drug-naïve patients with Parkinson's disease than in the general population. Based on the association between parkinsonism and restless legs syndrome, and the unique characteristics of restless legs syndrome in patients with Parkinson's disease, we suggest that the pathophysiology of restless legs syndrome in Parkinson's disease differs from that in patients without Parkinson's disease., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Background/aims: An increase in the pulsatility index (PI) has been suggested to reflect distal vascular resistance. The purpose of the present study was to investigate the association between intracranial arterial calcification and intracranial PIs., Methods: Consecutive patients with acute ischemic stroke or transient ischemic attack were included. The PIs of both middle cerebral arteries (MCAs) were measured by transcranial Doppler ultrasonography. Intracranial carotid artery calcification (ICAC) was assessed on computed tomography angiography, and then compared with the mean PI of both MCAs. Patients with internal carotid artery steno-occlusion were excluded from this study., Results: A total of 156 patients were finally enrolled. The prevalence of diabetes increased as the PI value increased (p for trends; p = 0.025). PI was correlated with ICAC score (r = 0.413, p < 0.001) and age (r = 0.507, p < 0.001). Multiple linear regression analysis indicated that aging and ICAC were independent determinants of the PI of MCA after adjusting for sex, systolic blood pressure, smoking, and the presence of diabetes., Conclusions: This study shows that an increase in PI was correlated with the severity of ICAC, which suggests calcification-related vascular resistance might have a role in the elevation of PI., (Copyright © 2012 S. Karger AG, Basel.)

Background: It is difficult to clarify whether small deep infarction is caused by cardioembolism or intrinsic small vessel disease in patients with atrial fibrillation (AF). The purpose of this study was to determine whether preexisting small vessel disease would differ according to the presenting infarct pattern and to determine the factors associated with acute single small deep infarction in stroke patients with AF., Methods: Between January 2008 and August 2012, 1,592 consecutive patients with acute ischemic stroke presenting within 7 days of symptom onset were entered in a prospectively maintained stroke registry. For the present study, 231 stroke patients with AF were enrolled irrespective of the stroke subtype. We divided these patients into 2 groups (lacunar infarct pattern, n = 20, vs. nonlacunar infarct pattern, n = 211) according to the acute infarct pattern on diffusion-weighted imaging. Patients with acute single small deep infarction on diffusion-weighted imaging were assigned to the lacunar infarct pattern group. We assessed the severity of preexisting small vessel disease by grading white matter lesions (WMLs) according to the Fazekas scale (periventricular WML score ranging from 0 to 3 and deep WML score ranging from 0 to 3 were added to give a total WML score ranging from 0 to 6), multilacunar state (number of chronic lacunes ≥2) and the presence of microbleeds. Demographic characteristics, vascular risk factors and neuroimaging data were compared between the two groups., Results: Patients with a lacunar infarct pattern showed more severe WMLs than those with a nonlacunar pattern [median total WML score 2.5 (range 2-4) vs. 1.0 (0-2); p < 0.001]. A multilacunar state was more prevalent in the lacunar infarct pattern group compared with the nonlacunar pattern group (65 vs. 28.9%; p = 0.001). However, the presence of microbleeds did not differ between the groups. Multiple logistic regression analyses revealed periventricular WMLs [odds ratio (OR) 4.12, 95% confidence interval (CI) 2.14-7.92], deep WMLs (OR 3.42, 95% CI 1.75-6.66) and multilacunar state (OR 7.85, 95% CI 2.45-25.6) as the predictors of a lacunar infarct pattern., Conclusions: The severity of WMLs and chronic lacunes were independent predictors of the incident infarct pattern, which suggested that acute single small deep infarction might be caused by intrinsic small vessel disease despite the presence of concomitant AF., (Copyright © 2013 S. Karger AG, Basel.)

Most reported cases of paroxysmal kinesigenic dyskinesia (PKD) are idiopathic or familial; however, hypoparathyroidism is another unusual cause of secondary PKD. The pathomechanism of PKD remains poorly understood, and the association between idiopathic and secondary PKD remains an enigma, and has yet to be clearly elucidated. We recently encountered a patient with idiopathic PKD whose symptoms were aggravated by secondary hypoparathyroidism with hypocalcemia after having undergone a thyroidectomy. The patient's paroxysms were ameliorated by the normalization of serum calcium levels. The results discussed herein may provide support for the hypothesis that PKD is associated with neuronal ion regulation., (Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms. Cerebral white matter involvement of DRPLA is rare and reported mainly in severe, progressed cases of old-aged or juvenile-onset DRPLA. We describe three cases of genetically confirmed DRPLA that developed changes in cerebral white matter in the early stage of middle-aged patients. Our results of our study indicate that cerebral white matter changes are not rare in DRPLA and might be helpful for differentiation in ataxia patients with brainstem and cerebellum atrophy.

Objectives: Reportedly, hippocampal neuronal degeneration by kainic acid (KA)-induced seizures in rats <14 days old was enhanced by lipopolysaccharide (LPS). This study was to test the hypothesis that cytokines such as interleukin (IL)-1β, IL-6 and tumor necrosis factor-α are associated with aggravated neuronal damage., Materials and Methods: Sixty male Sprague-Dawley, 14-day-old rats were used. Experiments were conducted in saline, LPS + saline, saline + KA and LPS + KA groups. Intraperitoneal LPS injections (0.04 mg/kg) were administered 3 h prior to KA injection (3 mg/kg)., Results: The LPS + KA group showed a tendency toward shorter latency to seizure onset (p = 0.086) and significantly longer seizure duration (p < 0.05) compared with the KA group. Induction of the proconvulsant cytokine IL-1β in rat pup brains was significantly greater in the LPS + KA group compared to the KA group (38.8 ± 5.5 vs. 9.2 ± 1.0 pg/µg; p < 0.05); however, IL-6 levels were higher in the KA group than in the LPS + KA group (108.7 ± 6.8 vs. 60.9 ± 4.7 pg/µg; p < 0.05). The difference in tumor necrosis factor-α between the LPS + KA group and the KA group was insignificant (12.1 ± 0.6 vs. 10.9 ± 2.3 pg/µg; p = 0.64)., Conclusions: Our results showed an increase in the proconvulsant cytokine IL-1β and a decrease in a potentially neuroprotective cytokine, IL-6, in rat pups treated with LPS + KA. These results warrant further investigation into the possible role of IL-1β induction and IL-6 suppression in LPS-promoted neuronal damage., (Copyright © 2012 S. Karger AG, Basel.)

Background: Previous diffusion-weighted MRI (DWI) studies have indicated that 10-40% of patients have silent embolism during neurointerventional procedures. However, lesion patterns of the embolisms have not been adequately investigated., Methods: DWI was taken within 7 days before and 48 h after cerebral angioplasty and stent procedures. New lesions on the follow-up DWI were analyzed in the non-treated arterial territories. Based on the arterial territories, supratentorial lesions were classified into cortical lesions and subcortical lesions. Cortical lesions were subdivided into cortical border zone and cortical proper lesions. Subcortical lesions were divided into deep perforator and internal border zone lesions. Infratentorial lesions were divided into brainstem and cerebellar lesions., Results: 72 patients were included in this study. There were 223 new DWI lesions (1-23 lesions) in the non-treated arterial territories of 37 patients. There were 154 cortical lesions, 45 cerebellar lesions, 21 subcortical lesions and 3 brainstem lesions. Analysis of the distribution pattern of cortical lesions showed that 88 of 154 lesions were located at the cortical border zone. Of the subcortical lesions, 13 of 21 lesions were located at the internal border zone area, within the corona radiata and centrum ovale. Only 4 lesions were located at the deep perforator territory. Infratentorial lesions were mostly located at the cerebellar hemisphere (45/48). Most lesions were tiny infarcts (<5 mm diameter); 7 of 223 lesions were >10 mm in diameter., Conclusions: Interventional-angiography-related microembolisms mostly lodge in the cerebral cortical border zone area and cerebellar hemisphere. Microembolisms to the deep perforating artery territory are distinctly rare., (Copyright © 2011 S. Karger AG, Basel.)

Background/aims: Brachial-ankle pulse wave velocity (baPWV) is a marker of vascular stiffness and is reported to be associated with diabetic neuropathy; however, the relationship between baPWV and nerve conduction study (NCS) has yet to be examined., Methods: Between January 2006 and December 2008, we investigated this relationship in diabetic patients. To this end, we reviewed the medical records of 100 diabetic patients for whom both baPWV and NCS had been examined., Results: The mean age of patients was 55.4 ± 10.6 years, and the mean duration of diabetes mellitus was 6.3 ± 7.3 years. A statistically significant inverse correlation between baPWV and NCS was observed, especially in the lower extremity sensory NCS [superficial peroneal sensory nerve action potential (SNAP), r = -0.466, p <0.05; sural SNAP, r = -0.384, p <0.01]. A multiple linear regression analysis also demonstrated a significant association between baPWV and some parameters of NCS (SNAP of sural nerve, and nerve conduction velocity of peroneal and sural nerves)., Conclusion: These results indicate that the degree of systemic arterial stiffness is associated with peripheral nerve status in diabetic patients, but it is unclear what this signifies and further study is needed., (Copyright © 2010 S. Karger AG, Basel.)

Background and Purpose: Oromandibular dyskinesia (OMD) can occur spontaneously or they can be induced by the conventional dopamine receptor antagonists. Anticholinergic medications have rarely been reported to cause OMD in parkinsonian or non-parkinsonian patients., Methods: We analyzed the clinical features of two parkinsonian and one non-parkinsonian patients who experienced OMD after anticholinergic medication., Results: Each patient of our cases developed oromandibular symptoms in the temporal regions that were related to the addition of anticholinergic agents, and the symptoms were relieved following the discontinuation of the causative anticholinergic drugs. In one of our case, levodopa alone did not cause dyskinesia but augmented dyskinesia associated with anticholinergics., Conclusions: Here we report two parkinsonian and one non-parkinsonian patients with OMD induced by the use of anticholinergic agents. In our cases, we could not find any other precipitating or actual secondary causes for the OMD symptoms in our patients. Furthermore, the fact that the OMD in our cases were ameliorated with cessation of anticholinergics suggests that it may be anticholinergic-induced.

Parkinson's disease (PD) with autonomic dysfunction is difficult to differentiate from Parkinsonism-predominant multiple system atrophy (MSA-p). This study aimed to analyze the validity of MIBG scintigraphy for PD with autonomic dysfunction and MSA-p. Thirty-nine patients (PD: 27 patients, MSA-p type: 12) and 12 age-matched controls were prospectively enrolled and underwent MIBG scintigraphy and autonomic function test (AFT). We separately calculated early and delayed heart-to-mediastinal (H/M) ratio and washout rates (WRs). AFT was composed of sympathetic skin reflex and parasympathetic tests based on heart rate variability. Abnormal AFT was observed in 17 (63%) of PD and 10 (83%) of MSA-p. On comparing PD with abnormal AFT with MSA-p, either the early or delayed H/M ratio in PD was not different from that in MSA-p (P > 0.05). Only the WR could differentiate PD with abnormal AFT from MSA-p (47.07 +/- 57.48 vs. 31.39 +/- 31.52, respectively) (P = 0.026). According to the results, WR may be more useful than the early and delayed H/M ratio to distinguish MSA-p from PD with abnormal AFT. Furthermore, the MIBG uptake did not reflect the disease duration or severity., (2009 Movement Disorder Society.)

Painless legs and moving toes is an unusual syndrome, which has not previously been reported as an initial presentation of ischemic stroke. We encountered a 78-year-old woman who developed dysarthria and involuntary movement of her left toes that was clinically regarded as painless legs and moving toes. These symptoms appeared abruptly and simultaneously as the initial symptoms of stroke, and improved gradually with conservative management by intravenous hydration for a month. We suggest that, in our case, a cortical brain lesion caused by ischemic stroke might be associated with the development of painless legs and moving toes.

To investigate whether Helicobacter pylori (HP) infection affects the clinical response to levodopa and whether its eradication could improve motor fluctuation in patients with Parkinson's disease (PD). Using the [(13)C] urea breath test, we monitored HP infection in 65 patients with PD and motor fluctuations of the "wearing-off" or delayed "on" types, with or without dyskinesia. We compared the clinical features and response to L-dopa between HP noninfected (n = 30) and HP infected patients (n = 35) by reviewing home diaries kept for 72 hours. Among HP infected patients, we compared the differences in L-dopa "onset" time, "on-time" duration, and scores on the motor examination section of the Unified PD Rating Scale (UPDRS-III) during the medication "on" phase before and after HP eradication. There were no differences in the age, disease duration, Hoehn and Yahr stage, UPDRS-III score, L-dopa daily dose, and frequency of dyskinesia between HP noninfected and HP infected groups. However, L-dopa "onset" time was longer and "on-time" duration was shorter in HP infected patients than in HP noninfected patients (78.4 +/- 28.2 vs. 56.7 +/- 25.1 and 210.0 +/- 75.7 vs. 257.7 +/- 68.9 min, respectively, P < 0.05). HP eradication improved the delay L-dopa "onset" time and short "on-time" duration (to 58.1 +/- 25.6 and to 234.4 +/- 66.5 min, respectively, P < 0.05). These data demonstrated that HP infection could interfere with the absorption of L-dopa and provoke motor fluctuations. HP eradication can improve the motor fluctuations of HP infected patients with PD., ((c) 2007 Movement Disorder Society.)

Background and Purpose: Blepharospasm (BSP) and apraxia of eyelid opening (AEO) have been reported as dystonia related with parkinsonism. However, systematic analysis of clinical characteristics of BSP and AEO in parkinsonism has been seldom reported. To investigate the clinical characteristics of BSP and AEO in parkinsonism and to find out the clinical significance to differentiate parkinsonism., Methods: We enrolled 35 patients who had BSP with or without AEO out of 1113 patients with parkinsonism (913 IPD, idiopathic Parkinson's disease; 190 MSA, multiple system atrophy, 134 MSA-p, 56 MSA-c and 10 PSP, progressive supranuclear palsy). We subdivided MSA into MSA-p (predominantly parkinsonism) and MSA-c (predominantly cerebellar) according to the diagnostic criteria proposed by Quinn. We analyzed the clinical features of BSP and parkinsonism including onset age, onset interval to BSP, characteristics of BSP, presence of AEO, coexisted dystonias on the other body parts, severity of parkinsonism and relationship with levodopa treatment., Results: BSP with or without AEO were more frequently observed in atypical parkinsonism (PSP, 70%; MSA-p, 11.2%; MSA-c, 8.9%) than in IPD (0.9%). Reflex BSP was observed only in atypical parkinsonism (4 MSA-p, 1 MSA-c and 2 PSP). BSP preceding parkinsonism (Pre-BSP) was observed mainly in atypical parkinsonism (2 MSA-p, 1 MSA-c, 1 PSP and 1 IPD). The presence of AEO was more frequent in atypical parkinsonism than in IPD, but isolated AEO was not detected. BSP related to levodopa ('off' symptom or 'peak-dose' effect) were observed only in IPD., Conclusions: Reflex BSP, Pre-BSP and the presence of AEO may be a unique feature of atypical parkinsonism. BSP related to levodopa might be representative of IPD. No differences were found in the clinical features of BSP between MSA-p and MSA-c.