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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.

Abstract Background The aim of this study is to investigate the alterations of thalamic nuclei volumes and the intrinsic thalamic network in patients with migraine. Methods We enrolled 35 patients with migraine without aura and 40 healthy controls. All subjects underwent three-dimensional T1-weighted imaging. The thalamic nuclei were segmented using the FreeSurfer program. We investigated volume changes of individual thalamic nuclei and analyzed the alterations of the intrinsic thalamic network based on volumes in the patients with migraine. Results Right and left thalamic volumes as a whole were not different between the patients with migraine and healthy controls. However, we found that right anteroventral and right and left medial geniculate nuclei volumes were significantly increased (0.00985% vs. 0.00864%, p = 0.0002; 0.00929% vs. 0.00823%, p = 0.0005; 0.00939% vs. 0.00769%, p

Acquired myasthenia gravis (MG) is a prototype autoimmune disease of the neuromuscular junction, caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR). There seem to be ethnic and regional differences in the frequency and clinical features of MG seronegative for the AChR antibody. This study aimed to describe the autoantibody profiles and clinical features of Korean patients with generalized MG seronegative for the AChR antibody. A total of 62 patients with a high index of clinical suspicion of seronegative generalized MG were identified from 18 centers, and we examined their sera for antibodies to clustered AChR, muscle-specific tyrosine kinase (MuSK), and low-density lipoprotein receptor-related protein 4 (LRP4) by cell-based assays (CBA) and to MuSK by radioimmunoprecipitation assay (RIPA). We also included 8 patients with ocular MG, 3 with Lambert-Eaton myasthenic syndrome, 5 with motor neuron disease, and 9 with other diagnoses as comparators for the serological testing. Antibodies were identified in 25/62 (40.3%) patients: 7 had antibodies to clustered AChR, 17 to MuSK, and 2 to LRP4. Three patients were double seropositive: 1 for MuSK and LRP4, and 2 for MuSK and clustered AChR. The patients with MuSK antibodies were mostly female (88.2%) and characterized by predominantly bulbar involvement (70%) and frequent myasthenic crises (58.3%). The patients with antibodies to clustered AChR, including 2 with ocular MG, tended to have a mild phenotype and good prognosis.

[This corrects the article DOI: 10.1371/journal.pone.0193723.].

Episodic ataxia type 2 (EA-2) is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. EA-2 is known to be caused by mutations of the CACNA1A gene on chromosome 19q13. We examined a family of EA-2 with a novel mutation of the CACNA1A gene showing characteristic ocular symptoms. A-36-year woman visited our hospital with paroxysmal vertigo. When she experienced vertigo attack, she also suffered from gait disturbance, dysarthria, and ataxia. She complained that she could not ride in a car or a train that moved fast, because she could not visually follow the moving objects. Her mother, grandmother, and uncle also complained of similar symptoms. Video nystagmographic findings showed loss of optokinetic nystagmus. We found a novel missense mutation, R279C (c.835C>T), on exon 6 in the CACNAIA gene. This is the first report of a family with new mutation of EA-2 in Korea. [ABSTRACT FROM AUTHOR]

Background : Excessive daytime sleepiness is one of the most common symptoms in snoring patients. However, the reason why some individuals complain of daytime sleepiness and others do not is unclear. In this study, we evaluated snoring individuals and examined several demographic and polysomnographic profiles in an attempt to identify predictors of excessive daytime sleepiness. Methods : The inclusion criteria for patients were the following: 1) patients who underwent an overnight polysomnograph, 2) patients with the chief complaint of snoring, and 3) patients who completed the Korean version of the Epworth sleepiness scale. We used the Epworth sleepiness scale to estimate excessive daytime sleepiness. We quantified correlations between the Epworth sleepiness scale and the demographic/polysomnographic parameters. We also analyzed the parameters affecting excessive daytime sleepiness using multiple linear regression analysis. Results : One hundred nineteen patients met the inclusion criteria for this study. Multiple regression analysis showed that young age was the only independent variable showing statistical significance for predicting excessive daytime sleepiness, and was well-correlated with the Epworth sleepiness scale. However, there were no polysomnographic parameters that were predictive. Conclusions : Clinicians need to be cautious when using the Epworth sleepiness scale for the diagnosis of obstructive sleep apnea and determining the response to treatment. [ABSTRACT FROM AUTHOR]

Objective: Although partial epilepsy with structural lesions on MRI (lesional epilepsy) is less favorably responsive to antiepileptics than those without structural lesions on MRI, the response to antiepileptics in lesional epilepsy is a heterogeneous condition. There is growing evidence that the extent of epileptic network beyond the visible lesion on MRI may be related with the response to antiepileptics. The aims of this study are to clarify whether (1) the epilepsy network beyond the visible lesion on MRI, or (2) duration of lesional epilepsy on MRI are related with the response to antiepileptics or not. Methods: The inclusion criteria for this study were (1) having structural lesions on MRI, (2) taking antiepileptics for at least 1 year, and (3) age ≥13 years old. The definition for drug-resistance epilepsy was a failure of adequate trials of two tolerated, appropriately chosen and used antiepileptics to achieve sustained seizure freedom. The duration was defined as the interval between the start of antiepileptics and the last follow-up. We defined the lesion-plus group as the structural lesions on MRI that has wider spread of epileptic network beyond the visible lesions on MRI, such as hippocampal sclerosis and malformation of cortical development. Lesion-restriction group was defined as the epileptic network being believed to be limited on the structural lesions. Results: We found 234 patients with lesional epilepsy, who met the inclusion criteria. Of these 234 patients, 115 patients were male (49%) and 119 patients were female (51%). The median age was 22 years old (range 13-78 years old) and the median duration was 131 months (range 12-516 months). Forty percent (90/234 patients) were intractable to antiepileptics. Of the structural lesions on MRI, hippocampal sclerosis was most frequent (N = 90). Other structural lesions were malformation of cortical development (N = 38), cerebromalatic lesions related with trauma (N = 34), tumor (N = 19), cystic lesion (N = 15), cerebral infarction (N = 11), vascular malformation (N = 10), and other miscellaneous lesion (N = 24). Lesion-plus group had significantly higher drug-resistance epilepsy than cystic lesions on MRI (60/128 vs. 2/15, p = 0.013 by Fisher's exact test). There was a tendency of having more drug-resistance epilepsy in the lesion-plus group than the lesion-restriction group (56/121 vs. 30/89, p = 0.09 by Chisquare test). The median duration in drug-resistance epilepsy was significantly longer than that of medically controlled epilepsy (178 months (range 23-516 months) vs 102 months (range 12-479 months), p < 0.0001 by Mann-Whitney test). In addition, duration was only the significant variable associated with drug-resistance epilepsy in lesional epilepsy by multiple logistic regression analysis (p = 0.02 for overall model fit). Conclusion: In lesional epilepsy, hippocampal sclerosis and malformation of cortical development are more intractable to antiepileptics, reflecting wider epileptic network beyond the visible lesion. In addition, the response to antiepileptics may be expected to decrease when the duration is prolonged. [ABSTRACT FROM AUTHOR]

Anti-aquaporin 4 antibody is the most common cause of neuromyelitis optica spectrum disorder (NMOSD) and anti-myelin oliogodendrocyte glycoprotein (MOG) antibody recently has emerged as another cause of NMOSD. Visual field defect can be observed as a manifestation of optic neuritis in patients with multiple sclerosis and NMOSD. However, homonymous hemianopia associated with a visual cortex lesion has been rarely reported in patients with multiple sclerosis and anti-aquaporin 4-positive NMOSD. Recently, we experienced a case of MOG-positive NMOSD who presented with a homonymous hemianopia associated with a visual cortex lesion. [ABSTRACT FROM AUTHOR]

The time course of recovery in vestibular neuritis varies between individuals. The aim of this study was to identify the predictors for the early or late recovery of vestibular neuritis. The inclusion criteria were patients 1) who had an acute onset of vertigo lasting at least 24 hours, 2) with a horizontal-torsional unidirectional spontaneous nystagmus, and 3) with a canal paresis of 20% or more on the bithermal caloric tests. The primary endpoint for this study was an early or late recovery of vestibular neuritis as a dependent variable. A functional level scale was used to define the late recovery (5 or more points) at seven days after the symptom onset. The secondary endpoint was the duration of hospitalization. One hundred twenty eight patients met the inclusion criteria for this study, and among them, 71 patients had an early recovery. Multiple logistic regression analysis showed that diabetes mellitus was the only independent significant variable for the prediction of a late recovery of vestibular neuritis. In addition, the diabetes mellitus was a predicting variable for long duration of hospitalization. Diabetes mellitus was a predictor for a late recovery of vestibular neuritis. [ABSTRACT FROM AUTHOR]

Background: Intravenous immunoglobulin (IVIG) treatment in Guillain-Barré syndrome (GBS) is relatively easy to administer and safe due to infrequent, non-severe side effects. Adverse effects can include skin reactions, the causes of which have not been fully elucidated. In this study, we investigated skin reactions following IVIG treatment for acute inflammatory neuropathy. We examined the relationship between the clinical results in the neuropathy and the clinical profile of skin reactions. Methods: We retrospectively analyzed patients with skin reactions that developed after IVIG treatment in acute immune-mediated or inflammatory neuropathy [GBS or Miller Fisher syndrome (MFS)] based on the dermatologic evaluation. Results: Ninety-six patients with acute inflammatory neuropathy were treated with IVIG during the study period. Thirteen cases (13.5%), with age at onset ranging from 22-69 years (mean, 50.3 years), developed skin reactions after IVIG treatment. The features accompanying skin reactions were hand eczema, including pompholyx (9/13, 82%), generalized eczematous eruption (2/13, 15.4%), and contact dermatitis, including folliculitis. The electrophysiological classification of 11 patients with classical GBS showed that nine patients (81.8 %) had axonal neuropathy, and one (9.1 %) had acute inflammatory demyelinating polyradiculoneuropathy. Conclusions: Eczematous skin reactions or pompholyx are the most common skin reactions following IVIG treatment in axonal GBS. These reactions were relatively minor and recovered well. Although adverse skin reactions to IVIG were usually benign and the precise mechanism of this cutaneous eruption remains unknown, its occurrence within days of IVIG treatment can be managed effectively if recognized by neurologists. [ABSTRACT FROM AUTHOR]

The article describes the case of a 53-year-old woman who presented to the emergency department complaining of difficulty wearing shoes. The patient was diagnosed with isolated foot drop after acute infarction of the supplementary motor area (SMA). She received clopidogrel as an antiplatelet agent instead of aspirin resulting in improved symptoms.

Objective: Delayed facial palsy (DFP) has often been described during the recovery stage of Fisher syndrome (FS), but the implications of DFP in FS pathophysiology have not been reported previously. The aim of this study was to identify the incidence and clinical course of DFP in FS, and to determine its clinical/pathophysiological implications in FS. Methods: About 71 FS patients were enrolled from seven university-based hospitals in Korea. DFP was defined with respect to new development of unilateral or bilateral facial palsies with delayed onset after either the nadir or improvement of initial neurological signs of FS. Results: Eleven of the 71 patients (16%) satisfied the definition of DFP. No other cranial palsies developed as a delayed pattern. With the exception of two patients with bulbar involvement, DFP developed after a latent period of upper-cranial neuropathies. Comparison of FS patients without and with DFP revealed no significant clinical, serological, or electrophysiological differences. All except one patient with DFP exhibited a good outcome within 1 month of follow-up. Conclusion: DFP was identified as a common and specific phenomenon in FS. Nearly all cases of DFP were developed in a descending manner and were associated with a good outcome, while other cranial neuropathies developed or followed as a sequential pattern. These findings suggest the involvement of so-called "descending reversible paralysis" in the pathophysiology of FS. [ABSTRACT FROM AUTHOR]