Journal of Clinical Neurology (Seoul, Korea)最新文献

{"title":"Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease","authors":"N. Jung, H. J. Lee, T. Mizuguchi, N. Matsumoto","doi":"10.3988/jcn.2022.18.3.358","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.358","url":null,"abstract":"","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"20 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120907587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent Ocular Myopathy and Myasthenia Gravis After Zimberelimab Therapy in a Patient With Non-Small-Cell Lung Cancer","authors":"Haelim Kim, Jong-Seok Lee, Jun-Soon Kim, K. Park","doi":"10.3988/jcn.2022.18.3.364","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.364","url":null,"abstract":"Dear Editor, Immune checkpoint inhibitors (ICIs) are promising candidates for cancer immunotherapy. Compared with conventional cytotoxic chemotherapy, ICIs are associated with higher rates of responses, overall patient survival, and tolerability.1 However, there are well-documented ICI-related neuromuscular complications.2 Here we report a rare case of concurrent ICI-related ocular myasthenia gravis (MG) and myopathy. A 49-year-old female recently diagnosed with non-small-cell lung cancer (NSCLC) with lymph node metastasis (stage IIIC) was admitted to Seoul National University Bundang Hospital due to a 2-week history of fluctuating ptosis and diplopia. She had no comorbidities. The expression of programmed death ligand-1 in the tumor led to her receiving one cycle of zimberelimab, a monoclonal antibody targeting programmed cell death protein-1. After 16 days of zimberelimab therapy, she experienced ptosis and diplopia. A neurologic examination revealed severe extraocular muscle (EOM) movement limitations and ptosis without orbital pain (Fig. 1A). The patient’s pupils were isocoric, round, and exhibited a prompt light reflex. She did not report any weakness, dysarthria, or sensory symptoms. Deep tendon reflexes were symmetrical and normal. Her serum creatinine kinase (CK) level was slightly elevated at 343 IU/L (reference <270 IU/L). The acetylcholinereceptor-binding antibody level was also elevated, at 1.05 nmol/L (reference <0.4 nmol/L). Thyroid function test results were normal. While the ice-cube test was positive, the neostigmine test and antiganglioside antibody test were negative. Testing serum paraneoplastic antibodies revealed positivity only for the anti-CV2 antibody. Myositis-specific and myositisassociated autoantibodies were not tested. Nerve conduction studies, electromyography, and repetitive nerve stimulation tests produced unremarkable results. The patient showed no evidence of thymoma or myocarditis. We judged that MG alone could not explain the severe EOM limitations, and so orbital magnetic resonance imaging (MRI) was performed, which showed diffuse atrophy of the bilateral EOMs with heterogeneous enhancement of the bilateral medial and lateral rectus muscle bellies (Fig. 1B and D). Brain MRI performed 1 week prior to zimberelimab administration confirmed the absence of definite EOM atrophy with homogeneous enhancement, which is a normal finding (Fig. 1C and E).3 These findings were consistent with a concurrent diagnosis of ICI-related ocular myopathy, which prompted the discontinuation of zimberelimab. Treatment with pyridostigmine and intravenous methylprednisolone (1 g daily for 5 days) followed by oral prednisolone (60 mg daily with slow tapering) resulted in partial improvements of ptosis and EOM limitations at the 6-month follow-up. To the best of our knowledge, concurrent ICI-related ocular MG and myopathy has rarely been reported. Most patients undergoing treatment with ICIs experience general weakness Haelim Kim Jong-S","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134282603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Choroidal Thickness in Multiple Sclerosis: An Optical Coherence Tomography Study","authors":"A. Masala, Ilaria Di Mola, M. Cellerino, V. Pera, A. Vagge, A. Uccelli, C. Christian, C. Traverso, M. Iester","doi":"10.3988/jcn.2022.18.3.334","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.334","url":null,"abstract":"Background and Purpose To identify changes in the choroidal thickness (CT) in multiple sclerosis (MS) patients with and without optic neuritis (ON) using enhanced-depth-imaging optical coherence tomography (EDI-OCT). Methods This cross-sectional study included 96 eyes with MS and 28 eyes of healthy controls. All participants underwent an ophthalmologic examination and EDI-OCT scanning (Spectralis, Heidelberg Engineering, Germany) to assess the CT and the retinal nerve fiber layer (RNFL) thickness. MS patients were divided into two groups: 1) with and 2) without a history of ON. The CT was evaluated in the fovea and at six horizontal and six vertical points at 500, 1,000, and 1,500 µm from the fovea. Paired t-tests were used to compare the groups, and p-value<0.05 was considered as significant. Results At all 13 measurements points, the CT was thicker in MS patients than in the healthy controls and was thinner in eyes with ON than in the contralateral eyes, but these differences were not statistically significant. However, the CT was always larger in all points in eyes with a history of ON than in the control eyes. The RNFL was significantly thinner (p<0.05) in both MS and ON eyes than in the control eyes. Conclusions The CT did not differ between MS and control eyes, but it was significantly larger in patients with a history of ON, in whom the RNFL was thinner. Further studies are necessary to establish the possible role of the choroid in MS.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115303855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Radiological Features of Myelin Oligodendrocyte Glycoprotein-Associated Myelitis in Adults","authors":"Ki Hoon Kim, Su-Hyun Kim, Jae-Won Hyun, H. Kim","doi":"10.3988/jcn.2022.18.3.280","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.280","url":null,"abstract":"Antibodies against myelin oligodendrocyte glycoprotein (MOG-IgG) have recently been established as a biomarker for MOG-antibody-associated disease (MOGAD), which is a distinct demyelinating disease of the central nervous system. Among the diverse clinical phenotypes of MOGAD, myelitis is the second-most-common presentation in adults, followed by optic neuritis. While some features overlap, there are multiple reports of distinctive clinical and radiological features of MOG-IgG-associated myelitis, which are useful for differentiating MOGAD from both multiple sclerosis and neuromyelitis optica spectrum disorder. In this review we summarize the clinical and radiographic characteristics of MOG-IgG-associated myelitis with a particular focus on adult patients.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"72 6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130768413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oxygen Therapy in Cluster Headache, Migraine, and Other Headache Disorders","authors":"Hee-Hung Mo, S. Chung, Todd D. Rozen, Soo-Jin Cho","doi":"10.3988/jcn.2022.18.3.271","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.271","url":null,"abstract":"Oxygen therapy (OT) can relieve head pain in certain primary headache disorders, including cluster headache (CH). The exact underlying mechanism is currently uncertain, but suggested mechanisms include inhibition of the trigeminoautonomic reflex, modulation of neurotransmitters, and cerebral vasoconstriction. OT is the standard for acute treatment of CH, but patients with CH often experience considerable difficulties accessing home OT due to problems with insurance coverage. Inhalation of 100% oxygen at 6–12 L/min for 15–30 min using a non-rebreather face mask is one of the most effective acute therapies for CH, but several trials have indicated the superiority of higher oxygen flow rates of up to 15 L/min and/or using a demand-valve oxygen mask that can produce very high flow rates. Two randomized controlled trials have demonstrated the efficacy of OT in migraine, but obtaining reliable evidence is considered difficult because of different inhalation protocols, varying outcome measures, and small samples. There are some reports on the efficacy of OT as an adjuvant therapy in hypnic headache, primary headache in the emergency department, and even postdural puncture headache. The goal of this review article is to expand the knowledge regarding the use of oxygen in the treatment of headache disorders.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"79 12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122695221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Case of Central Nervous System Lymphoma Presenting With Ataxic Quadriparesis Showing ‘Wine glass’-Like Appearance","authors":"B. Ahn, H. Go, Kyum-Yil Kwon","doi":"10.3988/jcn.2022.18.3.367","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.367","url":null,"abstract":"The wine glass sign on brain magnetic resonance imaging (MRI) appears as symmetrical corticospinal tract hyperintensities on coronal sections in T2-weighted imaging. The differential diagnoses of the classical wine glass-like appearance include amyotrophic lateral scle-rosis and osmotic myelinolysis. 1,2 However, to the best of our knowledge, this sign has not been reported in other brain conditions, including tumors. Herein we describe an unusual case presenting with progressive ataxic quadriparesis over several months in a patient with a wine glass-like appearance in brain MRI without gadolinium enhancement. The patient was finally diagnosed as primary central nervous system (CNS) lymphoma. A 71-year-old female presented with recurrent falls accompanied by general weakness. Two months previously she had insidiously developed gait difficulty with postural instabil-ity that worsened progressively, resulting in her not being able to walk independently. A neurological examination revealed quadriparesis (4/5 muscle strength) of the motor system in all extremities, whereas sensory function showed no abnormalities. A mild-to-moderate de-gree of cerebellar ataxia was noted in all extremities. Her deep tendon reflexes were normo-active and her upper motor neuron signs were not remarkable. There were no symptoms of cognitive decline. Routine laboratory tests including of electrolytes produced normal findings. Serologic tests, including a test for vasculitis and an enzyme-linked immunosorbent assay for human immunodeficiency virus, were unremarkable. Brain MRI including axial fluid-attenuated inversion recovery (FLAIR) sequences showed slightly asymmetrical white-matter-dominant hyperintensities extending from the pons up to the corona radiata, al-though with some marginal lesions involving the thalamus and basal ganglia (Fig. 1A). Es-pecially notable was coronal T2-weighted imaging showing bilateral","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"75 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133074789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Risk of Cardio-Cerebrovascular Diseases in Migraine Patients: A Nationwide Population-Based, Longitudinal Follow-Up Study in South Korea","authors":"Seung-Jae Lee, S. Yoon, Y. Bae, C. Bushnell, Hyung Jun Kim, D. Kang","doi":"10.3988/jcn.2022.18.3.323","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.3.323","url":null,"abstract":"Background and Purpose Migraine is reportedly associated with several cardio-cerebrovascular diseases (CCDs), but some of these diseases have not received sufficient attention. We thus attempted to determine the associations of migraine with peripheral arterial disease (PAD), ischemic heart disease (IHD), atrial fibrillation/flutter (AF), ischemic stroke (IS), and hemorrhagic stroke (HS). Methods The study population was recruited by applying International Classification of Diseases, Tenth Revision (ICD-10) codes to the database of the Korean National Health Insurance Service from 2002 to 2018. Cumulative incidence curves were plotted to compare the incidence rates of CCDs between the migraine (ICD-10 code G43; n=130,050) and nonmigraine (n=130,050) groups determined using 1:1 propensity-score matching. Cox proportional-hazards regression models were used to obtain adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs) for CCDs in patients with any migraine, migraine with aura (n=99,751), and migraine without aura (n=19,562) compared with nonmigraine controls. Results For all CCDs, the cumulative incidence rates were higher in the migraine group than the nonmigraine group (p<0.001 in log-rank test). Any migraine, irrespective of the presence of aura, was associated with PAD (aHR 2.29, 95% CI 2.06–2.53), IHD (aHR 2.17, 95% CI 2.12–2.23), AF (aHR 1.84, 95% CI 1.70–1.99), IS (aHR 2.91, 95% CI 2.67–3.16), and HS (aHR 2.46, 95% CI 2.23–2.71). aHR was higher in female than in male migraineurs for all of the CCDs. Conclusions Associations of migraine with CCDs have been demonstrated, which are stronger in females than in males.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"18 1-2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114133344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Treatment of Basilar Invagination and Platybasia Associated With Cerebellar Atrophy by Decompression Surgery","authors":"Juhee Lee, Hyung Seok Guk, Museong Kim, Eung-Joon Lee","doi":"10.3988/jcn.2022.18.2.241","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.241","url":null,"abstract":"Dear Editor, Craniovertebral junctional abnormalities are rare but underrecognized developmental disorders of the neural axis. The associated conditions include basilar invagination and platybasia, for which there have been only a few related clinical reports,1 and so the possible pathomechanisms remain unclear. Here we present a case of successful recovery from basilar invagination, platybasia, and cerebellar atrophy after decompressive surgery. A 41-year-old female patient presented to the clinic with a 2-year history of progressive imbalance. She also complained of voice changes, swallowing difficulties, and dizziness aggravated by upright posture. The patient had no familial loading or developmental delay, and no history of head or neck trauma. A neurological examination revealed dysarthria, dysphagia, gaze-evoked horizontal nystagmus augmented by left gaze, impaired left-sided smooth pursuit with preserved saccades (Supplementary Video in the online-only Data Supplement), and truncal ataxia with veering tendency to the right side. Her motor and sensory functions remained intact. Laboratory evaluations such as inflammation, infection, endocrine, and paraneoplastic antibody tests all produced negative findings. Magnetic resonance imaging (MRI) of the brain and cervical spine showed complete atlanto-occipital assimilation with severe basilar invagination and platybasia, resulting in anterior medullary compression and tonsillar herniation (Fig. 1A and B). Severe cerebellar atrophy was observed, predominantly in the bilateral vermis (Fig. 1D and E). Applying posterior fossa decompression and C1 laminectomy with duroplasty improved the imbalance and bulbar symptoms, including hoarseness and dysphagia, while postsurgery MRI revealed good decompression (Fig. 1C and F). Previous reports on basilar invagination have focused on surgical outcomes, which vary.2,3 Chronic vascular insufficiencies and tonsillar herniation have been suggested as underlying pathomechanisms.1 However, the treatments applied for anatomical decompression do not always result in good clinical outcomes.3 Therefore, understanding the neuroanatomical basis for the development of a patient’s symptoms is critical to achieving an accurate diagnosis and effective treatment. In the present case, magnetic resonance angiography revealed no particular stenosis or occlusion of the cerebral blood vessels. Although the anterior medulla was anatomically compressed, the symptoms and signs of the patient imply that the dorsal medulla, including the nucleus prepositus hypoglossi4 and vestibular nuclei, may play primary roles in provoking symptoms. The dorsal part of the medulla abutting the fourth ventricle, known as the area postrema, showed sparse tight junctions in the blood–brain barriers,5 which may contribute to a sensitivity to mechanical stress due to the obtuse angulation of platybasia, like in the present case. Since decompressive surgery not only releases local compression but also all","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"319 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122234374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene","authors":"Ko-Eun Choi, J. Yim, Myungshin Kim, Jung Hwan Lee","doi":"10.3988/jcn.2022.18.2.244","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.244","url":null,"abstract":"","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125861947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bayesian Interpretation of Essential Tremor Plus","authors":"R. Elble","doi":"10.3988/jcn.2022.18.2.127","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.127","url":null,"abstract":"Essential tremor (ET) plus is a new tremor classification that was introduced in 2018 by a task force of the International Parkinson and Movement Disorder Society. Patients with ET plus meet the criteria for ET but have one or more additional systemic or neurologic signs of uncertain significance or relevance to tremor (“soft signs”). Soft signs are not sufficient to diagnose another tremor syndrome or movement disorder, and soft signs in ET plus are known to have poor interrater reliability and low diagnostic sensitivity and specificity. Therefore, the clinical significance of ET plus must be interpreted probabilistically when judging whether a patient is more likely to have ET or a combined tremor syndrome, such as dystonic tremor. Such a probabilistic interpretation is possible with Bayesian analysis. This review presents a Bayesian analysis of ET plus in patients suspected of having ET versus a dystonic tremor syndrome, which is the most common differential diagnosis in patients referred for ET. Bayesian analysis of soft signs provides an estimate of the probability that a patient with possible ET is more likely to have an alternative diagnosis. ET plus is a distinct tremor classification and should not be viewed as a subtype of ET. ET plus covers a more-comprehensive phenotyping of people with possible ET, and the clinical interpretation of ET plus is enhanced with Bayesian analysis of associated soft signs.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124405096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}