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Papers by Yoon-Ho Hong

Journal of the Korean neurological association, 2010

Bilateral hypoglossal nerve palsy is a rare clinical presentation. We report a case of central sk... more Bilateral hypoglossal nerve palsy is a rare clinical presentation. We report a case of central skull base osteomyelitis (SBO) presenting with complete tongue paralysis in a 53-year-old man who was not diabetic or immunocompromised. Magnetic resonance imaging demonstrated characteristic features including abnormal contrast enhancement in the clivus (T1-weighted images). Blood tests revealed elevated acute-phase reactants and leukocytosis, which prompted prolonged antibiotic treatment. He responded well to the antibiotics, which together with typical clinical and imaging findings led to the diagnosis of bacterial SBO.J Korean Neurol Assoc 28(4):311-314, 2010KeyWords:Hypoglossal nerve palsy, Skull baseReceived May 22, 2010 Revised July 21, 2010Accepted July 21, 2010＊Yoon-Ho Hong, MDDepartment of Neurology, Seoul National University Boramae Hospital, 25 Sindaebang 2 dong, Dongjak-gu, Seoul 156-707, KoreaTel: +82-2-870-2472 Fax: +82-2-831-2826E-mail: nrhong@gmail.com

Frontiers in Psychiatry, 2020

without any antidepressant prescriptions or with suboptimal prescriptions and the variable prescr... more without any antidepressant prescriptions or with suboptimal prescriptions and the variable prescription patterns through the decades might suggest some unresolved gaps between evidence and practice.

Muscle & Nerve, 2010

The motor unit number index (MUNIX) refers to an electrophysiologic technique that measures the a... more The motor unit number index (MUNIX) refers to an electrophysiologic technique that measures the approximate number of motor units using the surface electromyographic interference pattern (SIP) recorded during voluntary contraction. This study was done to assess the reproducibility of MUNIX performed on hypothenar muscles in 62 normal controls and 22 amyotrophic lateral sclerosis (ALS) patients. Inter- and intraoperator correlation coefficients for MUNIX were 0.74 and 0.86, respectively, in normal controls, and 0.95 and 0.93, respectively, in ALS patients (P < 0.01 in all). Inter- and intraoperator coefficients of variation for MUNIX measurements were 17.5% and 15.3%, respectively, in normal controls, and 23.7% and 24.0%, respectively, in ALS patients. This study shows a good correlation for MUNIX between intra- and interoperator results in both normal controls and ALS patients. The test-retest variability seems to be greater in ALS patients compared with normal controls, but this will need to be confirmed in future studies. Sources of variability should be identified and corrected for clinical use.

Journal of the Neurological Sciences, 2010

Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative diso... more Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.

Gynecologic Oncology, 2012

Clinical Neurophysiology, 2009

Background: The diagnosis of primary periodic paralysis is usually based on clinical evidence, in... more Background: The diagnosis of primary periodic paralysis is usually based on clinical evidence, including clinical impressions, the presence of a family history of the disease, changes in serum potassium level during attacks, and the response to treatment. Exercise test (ET) has been reported to be useful in the identification of patients with periodic paralysis. But there is still no prospective diagnostic study to compare the value of ET with clinical diagnosis. Our study aimed to explore the sensitivity and the specificity of ET by comparing with clinical diagnosis. Methods: The patients were recruited at Peking Union Medical College Hospital from March 2006 to April 2008 which had those manifestations: (1) acute or episodic paralytic attack of the extremities; (2) paralytic attack lasting from hours to days; (3) complete recovery. All patients were screened according to a protocal consisting of a complete medical history, a full neurological examination, a serum potassium level test during attacks and asymptomatic phase, and standardized protocols for ET. The patients were assigned to PPs and control groups. Results: There were 155 patients in this study, 68 in PPs group and 72 in control group. The clinical diagnosis confirmed that 45 patients had been got the PPs, while ET confirmed 63 patients. The sensitivity of ET is 92.65%, higher than the clinical dagnosis whose is 66.18%. The clinical diagnosis had 16 false positive result more than ET. The specificity of ET is 91.67% and clinical diagnosis is 77.78%. The CMAP amplitude decreased percentage of PPs group was significient larger than contral group (P= 0.000, ANOVA-LTD). Conclusions: ET had higher sensitivity and specificity than clinical diagnosis which we usually use. ET is useful in confirming the diagnosis of the primary periodic paralysis.

Clinical Neurophysiology, 2009

motor weakness (Medical Research Council [MRC] grade 2) in the distal lower extremities with hype... more motor weakness (Medical Research Council [MRC] grade 2) in the distal lower extremities with hypesthesia for all sensory modalities. Deep tendon reflexes were absent. Cerebrospinal fluid study showed increased protein level without cellular component. Nerve conduction studies revealed multiple conduction blocks, prolonged distal latencies, and significant slowing of conduction velocities, suggesting demyelinating type of sensorimotor polyneuropathy. Other laboratory findings including vasculitis, paraneoplastic antibodies were all negative. On lumbar spine MRI, irregular hypertrophy of nerve roots with gadolinium enhancement were seen in the lumbar regions including cauda equina, mimicking neurofibroma or schwannoma. Her neurological deficits were improved with steroid treatment. Conclusions: This is the first report of CIDP with massive nerve root hypertrophy in Korea. Hypertrophy of the spinal nerve roots may be seen on MRI, particularly in cases of CIDP of long duration, and it can be an additional clue to the diagnosis of CIDP.

Clinical and Experimental Hypertension, 2002

Effects of amlodipine (AML), a long-acting calcium antagonist, and losartan (LOS), an angiotensin... more Effects of amlodipine (AML), a long-acting calcium antagonist, and losartan (LOS), an angiotensin II receptor antagonist, on 24-hr blood pressure profile were compared in 15 patients with essential hypertension. After 4 weeks of placebo period, the patients were treated with AML or LOS in a random crossover design for 12-16 weeks each. Either drug was given once daily at 0800 and the doses were titrated so that the office blood pressure was reduced lower than 140/90mmHg. At the end of each period, 24-hr blood pressure was monitored. Average office blood pressure was lowered from 158 +/- 2/ 98 +/- 2 mmHg to 134 +/- 1/87 +/- 1 mmHg by AML and 134 +/- 2/88 +/- 1 mmHg by LOS. Average 24-hr blood pressure was also reduced from 144 +/- 3/ 92 +/- 2 mmHg to 131 +/- 2/84 +/- 2 mmHg by AML and 135 +/- 3/85 +/- 2 mmHg by LOS. The averaged 24-hr systolic blood pressure was significantly lower in AML than in LOS (p < 0.05). Then, the 24-hr blood pressure was analyzed for four segments; morning (0530-0900 h), daytime (0930-1800 h), evening (1830-2300 h) and night (2330-0500 h). Although the daytime blood pressure was comparable between AML and LOS, systolic blood pressure in the evening and morning hours were lower in AML than in LOS (133 +/- 2 vs. 138 +/- 3mmHg,p<0.01; 129 +/- 3 vs. 134 +/- 4,p<0.05). Troughtopeakratio of antihypertensive effect on systolic blood pressure was significantly greater in AML than in LOS (62 +/- 5% vs. 55 +/- 4%, p < 0.05). Either drug did not cause reflective increase in pulse rate over 24 hours. These results suggest that both AML and LOS are equally effective in lowering daytime blood pressure without eliciting reflex tachycardia, however, the antihypertensive effect of AML lasts longer than that of LOS. Such information seems important to achieve 24-hr blood pressure control using these drugs.

American Journal of Ophthalmology, 2006

Background: Neuromyelitis optica (NMO) is a severe demyelinating disease defined principally by i... more Background: Neuromyelitis optica (NMO) is a severe demyelinating disease defined principally by its tendencytoselectivelyaffectopticnervesandthespinalcord causingrecurrentattacksofblindnessandparalysis.Contemporary diagnostic criteria require absence of clinical disease outside the optic nerve or spinal cord. We have, however, frequently encountered patients with a wellestablished diagnosis of NMO in whom either asymptomatic or symptomatic brain lesions develop suggestingthatthediagnosticcriteriaforNMOshouldberevised. Objective: To describe the magnetic resonance image (MRI) brain findings in NMO. Design: Observational, retrospective case series. Patients:Weascertainedpatientsthroughaclinicalbiospecimens database of individuals with definite or suspected NMO. We included patients who (1) satisfied the 1999 criteria of Wingerchuk et al for NMO except for the absolute criterion of lacking symptoms beyond the optic nerve and spinal cord and the supportive criterion of having a normal brain MRI at onset; (2) had MRI evidence of a spinal cord lesion extending 3 vertebral segments or more (the most specific nonserological feature to differentiate NMO from MS); and (3) were evaluated neurologically and by brain MRI at the Mayo Clinic. Main Outcome Measures: Magnetic resonance images were classified as normal or as abnormal with either nonspecific, multiple sclerosis–like or atypical abnormalities.Weevaluatedwhetherbrainlesionsweresymptomatic and analyzed the neuropathologic features of a single brain biopsy specimen. Results:Sixtypatients(53women[88%])fulfilledthese inclusion criteria. The mean±SD age at onset was 37.2±18.4 years and the mean±SD duration of follow-upwas6.0±5.6years.Neuromyelitisoptica–IgGwas detected in 41 patients (68%). Brain MRI lesions were detectedin36patients(60%).Mostwerenonspecific,but 6patients(10%)hadmultiplesclerosis–likelesions,usuallyasymptomatic.Another5patients(8%),mostlychildren, had diencephalic, brainstem or cerebral lesions, atypical for multiple sclerosis. When present, symptoms of brain involvement were subtle, except in 1 patient who was comatose and had large cerebral lesions. Conclusions: Asymptomatic brain lesions are common in NMO, and symptomatic brain lesions do not exclude the diagnosis of NMO. These observations justify revision of diagnostic criteria for NMO to allow for brain involvement.

Journal of Neuropathology & Experimental Neurology

Immune-mediated neuropathies are a heterogenous group of inflammatory peripheral nerve disorders.... more Immune-mediated neuropathies are a heterogenous group of inflammatory peripheral nerve disorders. They can be classified according to the domain where the autoimmune process begins: the internode, paranode, or node. However, conventional diagnostic tools, electrodiagnosis (EDX), and autoantibody testing do not fully address this issue. In this institutional cohort study, we investigated the value of dermal myelinated fiber analysis for target domain-based classification. Twenty-seven consecutive patients with immune-mediated neuropathies underwent skin biopsies. The sections were stained with antibodies representative of myelinated fiber domains and were scanned using a confocal microscope. Clinical and pathological features of each patient were reviewed comprehensively. Quantitative morphometric parameters were subjected to clustering analysis, which stratified patients into 3 groups. Cluster 1 (“internodopathy”) was characterized by prominent internodal disruption, intact nodes an...

Journal of Neurology

Background We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELI... more Background We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELISA) for anti-muscle specific tyrosine kinase (MuSK) antibody (Ab) in a large cohort of anti-acetylcholine receptor (AChR) Ab-negative generalized myasthenia gravis (MG), and also to investigate clinical contexts for the diagnosis of MuSK MG. Methods A retrospective study of 160 patients with a clinical suspicion of AChR Ab-negative generalized MG was performed. The serum samples were tested for anti-clustered AChR Ab by cell-based assay (CBA), anti-MuSK Ab by ELISA, CBA and/or radioimmunoprecipitation assay (RIPA). Clinical data were compared between anti-MuSK Ab-positive MG and double seronegative (AChR and MuSK) MG groups. Results After excluding non-MG and clustered AChR Ab-positive patients, we identified 89 patients as a cohort of AChR Ab-negative generalized MG. Anti-MuSK Ab was positive by ELISA in 22 (24.7%) patients. While CBA identified five additional anti-MuSK Ab-positive pat...

Journal of the Korean neurological association, 2002

Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located... more Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy. J Korean Neurol Assoc 24(5):491-494, 2006

침근전도 검사는 근신경계 질환의 진단에 있어 필수적 인 검사로서 광범위하게 적용되고 있으나, 비교적 침습적 인 면이 있어 출혈, 감염, 기흉, 신경손상 등의 합병증이 보고된바... more 침근전도 검사는 근신경계 질환의 진단에 있어 필수적 인 검사로서 광범위하게 적용되고 있으나, 비교적 침습적 인 면이 있어 출혈, 감염, 기흉, 신경손상 등의 합병증이 보고된바있다. 이중에서기흉은주로횡경막 (diaphragm) 과 늑간근 (intercostals muscle) 검사시 주로 발생한다 고 알려져 있으며, 드물지만 극상근(supraspinatus) 및 거상근(serratus anterior), 능형근(rhomboid muscle), 경추부 및 흉추부 척추 옆 근육(cervical and thoracic paraspinal muscles)에 대한 검사 시에도 발생하였다는 보고가 있다. 그러나, 이와 같은 합병증의 발생비율이나 예측인자에 대해서는 정확히 알려진 바가 없으며 국내에 서는 보고된 예가 없다. 저자들은 최근 경추부 척추옆근 육에 대한 침근전도 검사 후 기흉이 발생한 1예를 경험하 였기에 이를 보고하는 바이다. 증 례

Colchicine is a drug used for the treatment of acute gouty arthritis or various autoimmune diseas... more Colchicine is a drug used for the treatment of acute gouty arthritis or various autoimmune diseases. Gastrointestinal adverse effects such as abdominal pain and vomiting are the common side effects of the drug, but rarely myopathy has been reported to occur particularly in renal recipients who were treated concomitantly with immunosuppressants. Herein, we report a case who presented with acute myopathy after treated with colchicine for acute gouty arthritis.

Bickerstaff’ s brainstem encephalitis (BBE) is a rare disorder with acute ophthalmoparesis, ataxi... more Bickerstaff’ s brainstem encephalitis (BBE) is a rare disorder with acute ophthalmoparesis, ataxia, consciousness disturbance, and pyramidal signs of suspected autoimmune origin. A-62-year-old woman developed acute diplopia, dysarthria, gaze-paretic nystagmus and gait ataxia. Her mental status fell subsequently into stupor. Brain MRI and nerve conduction study showed no significantly abnormal findings. Electroencephalography revealed diffuse low voltage slowings. After treating with intravenous immunoglobulin, she demonstrated rapid clinical recovery. This case suggests that immunoglobulin can be an alternative option in BBE treatment, especially when plasmapheresis and corticosteroids are difficult or contraindicated.

Scientific Reports, 2020

Disproportionate muscle atrophy is a distinct phenomenon in amyotrophic lateral sclerosis (ALS); ... more Disproportionate muscle atrophy is a distinct phenomenon in amyotrophic lateral sclerosis (ALS); however, preferentially affected leg muscles remain unknown. We aimed to identify this split-leg phenomenon in ALS and determine its pathophysiology. Patients with ALS (n = 143), progressive muscular atrophy (PMA, n = 36), and age-matched healthy controls (HC, n = 53) were retrospectively identified from our motor neuron disease registry. We analyzed their disease duration, onset region, ALS Functional Rating Scale-Revised Scores, and results of neurological examination. Compound muscle action potential (CMAP) of the extensor digitorum brevis (EDB), abductor hallucis (AH), and tibialis anterior (TA) were reviewed. Defined by CMAPEDB/CMAPAH (SIEDB) and CMAPTA/CMAPAH (SITA), respectively, the values of split-leg indices (SI) were compared between these groups. SIEDB was significantly reduced in ALS (p < 0.0001) and PMA (p < 0.0001) compared to the healthy controls (HCs). SITA reducti...

Scientific Reports, 2020

Recent large-scale genome-wide association studies have identified common genetic variations that... more Recent large-scale genome-wide association studies have identified common genetic variations that may contribute to the risk of amyotrophic lateral sclerosis (ALS). However, pinpointing the risk variants in noncoding regions and underlying biological mechanisms remains a major challenge. Here, we constructed a convolutional neural network model with a large-scale GWAS meta-analysis dataset to unravel functional noncoding variants associated with ALS based on their epigenetic features. After filtering and prioritizing of candidates, we fine-mapped two new risk variants, rs2370964 and rs3093720, on chromosome 3 and 17, respectively. Further analysis revealed that these polymorphisms are associated with the expression level of CX3CR1 and TNFAIP1, and affect the transcription factor binding sites for CTCF, NFATc1 and NR3C1. Our results may provide new insights for ALS pathogenesis, and the proposed research methodology can be applied for other complex diseases as well.

Journal of Korean Society for Clinical Pharmacology and Therapeutics, 2005

Background : Mesoglycan, a preparation of natural glycosaminoglycans, has pleiotropic protective ... more Background : Mesoglycan, a preparation of natural glycosaminoglycans, has pleiotropic protective effects on cerebral vasculature, including anti-thrombotic, fibrinolytic and anti-atherogenic activity. It also has shown a feasible potential in the secondary prevention for cerebral ischemia. In this study, we investigated the effect of mesoglycan and aspirin combination on fibrinogen levels in patients with previous ischemic stroke. Methods : Patients with previous ischemic stroke were randomly assigned as either mesoglycan group (mesoglycan 50mg twice daily + aspirin 300mg once daily) or control group (placebo twice daily + aspirin 300mg once daily), and treated in double-blinded manner. Efficacy variable included the fibrinogen level, which was checked on every visit for 8 weeks (at the second, forth and eighth week). Results : Forty-five outpatients (22 control group and 23 mesoglycan group) were included and analyzed. There was no significant difference in the baseline characteristics, including age, sex, baseline fibrinogen and cholesterol profiles, between the mesoglycan group and the control group. No clinical or laboratory adverse effects were reported in the mesoglycan group, while two non-treatment emerging adverse effects were reported in the control group. Mesoglycan group exerted no significant change of the fibrinogen level compared with the control group. Conclusions : In this study, mesoglycan and aspirin combination in patients with previous cerebral ischemia showed a favorable tolerability without any adverse effects. However, to verify the efficacy of mesoglycan and aspirin combination on the fibrinolytic system or the secondary prevention, further study is warran ted based on a larger scaled subjects and long-term period.

BioMed Research International, 2017

Glycogen synthase kinase-3β (GSK-3β) inhibitors have been suggested as a core regulator of apopto... more Glycogen synthase kinase-3β (GSK-3β) inhibitors have been suggested as a core regulator of apoptosis and have been investigated as therapeutic agents for neurodegenerative diseases, including amyotrophic lateral sclerosis. However, GSK-3β has an interesting paradoxical effect of being proapoptotic during mitochondrial-mediated intrinsic apoptosis but antiapoptotic during death receptor-mediated extrinsic apoptosis. We assessed the effect of low to high doses of a GSK-3β inhibitor on survival and apoptosis of the NSC-34 motor neuron-like cell line after serum withdrawal. Then, we identified changes in extrinsic apoptosis markers, including Fas, Fas ligand, cleaved caspase-8, p38α, and the Fas-Daxx interaction. The GSK-3β inhibitor had an antiapoptotic effect at the low dose but was proapoptotic at the high dose. Proapoptotic effect at the high dose can be explained by increased signals in cleaved caspase-8 and the motor neuron-specific p38α and Fas-Daxx interaction. Our results sugge...

Background: The results of a routine nerve conduction study (NCS) are sometimes normal in diabeti... more Background: The results of a routine nerve conduction study (NCS) are sometimes normal in diabetic patients with clinical manifestations of sensory polyneuropathy, especially in the early stage. We report on the value of a plantar NCS in diabetic sensory polyneuropathy with normal results from a routine NCS. Methods: Mixed nerve conduction data in the medial and lateral plantar nerves of both feet were obtained orthodromically in 47 normal subjects and 30 patients with diabetic sensory polyneuropathies with normal results from a routine NCS. The latency and amplitude of compound nerve action potentials (CNAPs) of plantar nerves were normal in the normal subjects. The results of a plantar NCS in the patient group were compared with these normal values. Results: Nerve conduction abnormalities were found in 14 patients (46.7%). The rates of abnormal findings were 33.3% (20 of 60 nerves) and 31.7% (19 of 60 nerves) in the medial and lateral plantar nerves, respectively. A definite polyneuropathy pattern was found in 10 patients (33.3%). The CNAP amplitude was low or absent in 12 patients (85.7%) with abnormal nerve conduction, and 8 patients (57.1%) showed a prolonged CNAP latency. Conclusions: A plantar NCS is useful for detecting nerve conduction abnormalities in diabetic sensory polyneuropathy when normal results are obtained from a routine NCS. The diagnostic sensitivity of a routine NCS can be significantly increased by adding a plantar NCS when evaluating patients with sensory polyneuropathies, especially in the early stage.

Journal of the Korean neurological association, 2010

Bilateral hypoglossal nerve palsy is a rare clinical presentation. We report a case of central sk... more Bilateral hypoglossal nerve palsy is a rare clinical presentation. We report a case of central skull base osteomyelitis (SBO) presenting with complete tongue paralysis in a 53-year-old man who was not diabetic or immunocompromised. Magnetic resonance imaging demonstrated characteristic features including abnormal contrast enhancement in the clivus (T1-weighted images). Blood tests revealed elevated acute-phase reactants and leukocytosis, which prompted prolonged antibiotic treatment. He responded well to the antibiotics, which together with typical clinical and imaging findings led to the diagnosis of bacterial SBO.J Korean Neurol Assoc 28(4):311-314, 2010KeyWords:Hypoglossal nerve palsy, Skull baseReceived May 22, 2010 Revised July 21, 2010Accepted July 21, 2010＊Yoon-Ho Hong, MDDepartment of Neurology, Seoul National University Boramae Hospital, 25 Sindaebang 2 dong, Dongjak-gu, Seoul 156-707, KoreaTel: +82-2-870-2472 Fax: +82-2-831-2826E-mail: nrhong@gmail.com

Frontiers in Psychiatry, 2020

without any antidepressant prescriptions or with suboptimal prescriptions and the variable prescr... more without any antidepressant prescriptions or with suboptimal prescriptions and the variable prescription patterns through the decades might suggest some unresolved gaps between evidence and practice.

Muscle & Nerve, 2010

The motor unit number index (MUNIX) refers to an electrophysiologic technique that measures the a... more The motor unit number index (MUNIX) refers to an electrophysiologic technique that measures the approximate number of motor units using the surface electromyographic interference pattern (SIP) recorded during voluntary contraction. This study was done to assess the reproducibility of MUNIX performed on hypothenar muscles in 62 normal controls and 22 amyotrophic lateral sclerosis (ALS) patients. Inter- and intraoperator correlation coefficients for MUNIX were 0.74 and 0.86, respectively, in normal controls, and 0.95 and 0.93, respectively, in ALS patients (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.01 in all). Inter- and intraoperator coefficients of variation for MUNIX measurements were 17.5% and 15.3%, respectively, in normal controls, and 23.7% and 24.0%, respectively, in ALS patients. This study shows a good correlation for MUNIX between intra- and interoperator results in both normal controls and ALS patients. The test-retest variability seems to be greater in ALS patients compared with normal controls, but this will need to be confirmed in future studies. Sources of variability should be identified and corrected for clinical use.

Journal of the Neurological Sciences, 2010

Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative diso... more Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G) in SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.

Gynecologic Oncology, 2012

Clinical Neurophysiology, 2009

Background: The diagnosis of primary periodic paralysis is usually based on clinical evidence, in... more Background: The diagnosis of primary periodic paralysis is usually based on clinical evidence, including clinical impressions, the presence of a family history of the disease, changes in serum potassium level during attacks, and the response to treatment. Exercise test (ET) has been reported to be useful in the identification of patients with periodic paralysis. But there is still no prospective diagnostic study to compare the value of ET with clinical diagnosis. Our study aimed to explore the sensitivity and the specificity of ET by comparing with clinical diagnosis. Methods: The patients were recruited at Peking Union Medical College Hospital from March 2006 to April 2008 which had those manifestations: (1) acute or episodic paralytic attack of the extremities; (2) paralytic attack lasting from hours to days; (3) complete recovery. All patients were screened according to a protocal consisting of a complete medical history, a full neurological examination, a serum potassium level test during attacks and asymptomatic phase, and standardized protocols for ET. The patients were assigned to PPs and control groups. Results: There were 155 patients in this study, 68 in PPs group and 72 in control group. The clinical diagnosis confirmed that 45 patients had been got the PPs, while ET confirmed 63 patients. The sensitivity of ET is 92.65%, higher than the clinical dagnosis whose is 66.18%. The clinical diagnosis had 16 false positive result more than ET. The specificity of ET is 91.67% and clinical diagnosis is 77.78%. The CMAP amplitude decreased percentage of PPs group was significient larger than contral group (P= 0.000, ANOVA-LTD). Conclusions: ET had higher sensitivity and specificity than clinical diagnosis which we usually use. ET is useful in confirming the diagnosis of the primary periodic paralysis.

Clinical Neurophysiology, 2009

motor weakness (Medical Research Council [MRC] grade 2) in the distal lower extremities with hype... more motor weakness (Medical Research Council [MRC] grade 2) in the distal lower extremities with hypesthesia for all sensory modalities. Deep tendon reflexes were absent. Cerebrospinal fluid study showed increased protein level without cellular component. Nerve conduction studies revealed multiple conduction blocks, prolonged distal latencies, and significant slowing of conduction velocities, suggesting demyelinating type of sensorimotor polyneuropathy. Other laboratory findings including vasculitis, paraneoplastic antibodies were all negative. On lumbar spine MRI, irregular hypertrophy of nerve roots with gadolinium enhancement were seen in the lumbar regions including cauda equina, mimicking neurofibroma or schwannoma. Her neurological deficits were improved with steroid treatment. Conclusions: This is the first report of CIDP with massive nerve root hypertrophy in Korea. Hypertrophy of the spinal nerve roots may be seen on MRI, particularly in cases of CIDP of long duration, and it can be an additional clue to the diagnosis of CIDP.

Clinical and Experimental Hypertension, 2002

Effects of amlodipine (AML), a long-acting calcium antagonist, and losartan (LOS), an angiotensin... more Effects of amlodipine (AML), a long-acting calcium antagonist, and losartan (LOS), an angiotensin II receptor antagonist, on 24-hr blood pressure profile were compared in 15 patients with essential hypertension. After 4 weeks of placebo period, the patients were treated with AML or LOS in a random crossover design for 12-16 weeks each. Either drug was given once daily at 0800 and the doses were titrated so that the office blood pressure was reduced lower than 140/90mmHg. At the end of each period, 24-hr blood pressure was monitored. Average office blood pressure was lowered from 158 +/- 2/ 98 +/- 2 mmHg to 134 +/- 1/87 +/- 1 mmHg by AML and 134 +/- 2/88 +/- 1 mmHg by LOS. Average 24-hr blood pressure was also reduced from 144 +/- 3/ 92 +/- 2 mmHg to 131 +/- 2/84 +/- 2 mmHg by AML and 135 +/- 3/85 +/- 2 mmHg by LOS. The averaged 24-hr systolic blood pressure was significantly lower in AML than in LOS (p &lt; 0.05). Then, the 24-hr blood pressure was analyzed for four segments; morning (0530-0900 h), daytime (0930-1800 h), evening (1830-2300 h) and night (2330-0500 h). Although the daytime blood pressure was comparable between AML and LOS, systolic blood pressure in the evening and morning hours were lower in AML than in LOS (133 +/- 2 vs. 138 +/- 3mmHg,p&lt;0.01; 129 +/- 3 vs. 134 +/- 4,p&lt;0.05). Troughtopeakratio of antihypertensive effect on systolic blood pressure was significantly greater in AML than in LOS (62 +/- 5% vs. 55 +/- 4%, p &lt; 0.05). Either drug did not cause reflective increase in pulse rate over 24 hours. These results suggest that both AML and LOS are equally effective in lowering daytime blood pressure without eliciting reflex tachycardia, however, the antihypertensive effect of AML lasts longer than that of LOS. Such information seems important to achieve 24-hr blood pressure control using these drugs.

American Journal of Ophthalmology, 2006

Background: Neuromyelitis optica (NMO) is a severe demyelinating disease defined principally by i... more Background: Neuromyelitis optica (NMO) is a severe demyelinating disease defined principally by its tendencytoselectivelyaffectopticnervesandthespinalcord causingrecurrentattacksofblindnessandparalysis.Contemporary diagnostic criteria require absence of clinical disease outside the optic nerve or spinal cord. We have, however, frequently encountered patients with a wellestablished diagnosis of NMO in whom either asymptomatic or symptomatic brain lesions develop suggestingthatthediagnosticcriteriaforNMOshouldberevised. Objective: To describe the magnetic resonance image (MRI) brain findings in NMO. Design: Observational, retrospective case series. Patients:Weascertainedpatientsthroughaclinicalbiospecimens database of individuals with definite or suspected NMO. We included patients who (1) satisfied the 1999 criteria of Wingerchuk et al for NMO except for the absolute criterion of lacking symptoms beyond the optic nerve and spinal cord and the supportive criterion of having a normal brain MRI at onset; (2) had MRI evidence of a spinal cord lesion extending 3 vertebral segments or more (the most specific nonserological feature to differentiate NMO from MS); and (3) were evaluated neurologically and by brain MRI at the Mayo Clinic. Main Outcome Measures: Magnetic resonance images were classified as normal or as abnormal with either nonspecific, multiple sclerosis–like or atypical abnormalities.Weevaluatedwhetherbrainlesionsweresymptomatic and analyzed the neuropathologic features of a single brain biopsy specimen. Results:Sixtypatients(53women[88%])fulfilledthese inclusion criteria. The mean±SD age at onset was 37.2±18.4 years and the mean±SD duration of follow-upwas6.0±5.6years.Neuromyelitisoptica–IgGwas detected in 41 patients (68%). Brain MRI lesions were detectedin36patients(60%).Mostwerenonspecific,but 6patients(10%)hadmultiplesclerosis–likelesions,usuallyasymptomatic.Another5patients(8%),mostlychildren, had diencephalic, brainstem or cerebral lesions, atypical for multiple sclerosis. When present, symptoms of brain involvement were subtle, except in 1 patient who was comatose and had large cerebral lesions. Conclusions: Asymptomatic brain lesions are common in NMO, and symptomatic brain lesions do not exclude the diagnosis of NMO. These observations justify revision of diagnostic criteria for NMO to allow for brain involvement.

Journal of Neuropathology & Experimental Neurology

Immune-mediated neuropathies are a heterogenous group of inflammatory peripheral nerve disorders.... more Immune-mediated neuropathies are a heterogenous group of inflammatory peripheral nerve disorders. They can be classified according to the domain where the autoimmune process begins: the internode, paranode, or node. However, conventional diagnostic tools, electrodiagnosis (EDX), and autoantibody testing do not fully address this issue. In this institutional cohort study, we investigated the value of dermal myelinated fiber analysis for target domain-based classification. Twenty-seven consecutive patients with immune-mediated neuropathies underwent skin biopsies. The sections were stained with antibodies representative of myelinated fiber domains and were scanned using a confocal microscope. Clinical and pathological features of each patient were reviewed comprehensively. Quantitative morphometric parameters were subjected to clustering analysis, which stratified patients into 3 groups. Cluster 1 (“internodopathy”) was characterized by prominent internodal disruption, intact nodes an...

Journal of Neurology

Background We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELI... more Background We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELISA) for anti-muscle specific tyrosine kinase (MuSK) antibody (Ab) in a large cohort of anti-acetylcholine receptor (AChR) Ab-negative generalized myasthenia gravis (MG), and also to investigate clinical contexts for the diagnosis of MuSK MG. Methods A retrospective study of 160 patients with a clinical suspicion of AChR Ab-negative generalized MG was performed. The serum samples were tested for anti-clustered AChR Ab by cell-based assay (CBA), anti-MuSK Ab by ELISA, CBA and/or radioimmunoprecipitation assay (RIPA). Clinical data were compared between anti-MuSK Ab-positive MG and double seronegative (AChR and MuSK) MG groups. Results After excluding non-MG and clustered AChR Ab-positive patients, we identified 89 patients as a cohort of AChR Ab-negative generalized MG. Anti-MuSK Ab was positive by ELISA in 22 (24.7%) patients. While CBA identified five additional anti-MuSK Ab-positive pat...

Journal of the Korean neurological association, 2002

Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located... more Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy. J Korean Neurol Assoc 24(5):491-494, 2006

침근전도 검사는 근신경계 질환의 진단에 있어 필수적 인 검사로서 광범위하게 적용되고 있으나, 비교적 침습적 인 면이 있어 출혈, 감염, 기흉, 신경손상 등의 합병증이 보고된바... more 침근전도 검사는 근신경계 질환의 진단에 있어 필수적 인 검사로서 광범위하게 적용되고 있으나, 비교적 침습적 인 면이 있어 출혈, 감염, 기흉, 신경손상 등의 합병증이 보고된바있다. 이중에서기흉은주로횡경막 (diaphragm) 과 늑간근 (intercostals muscle) 검사시 주로 발생한다 고 알려져 있으며, 드물지만 극상근(supraspinatus) 및 거상근(serratus anterior), 능형근(rhomboid muscle), 경추부 및 흉추부 척추 옆 근육(cervical and thoracic paraspinal muscles)에 대한 검사 시에도 발생하였다는 보고가 있다. 그러나, 이와 같은 합병증의 발생비율이나 예측인자에 대해서는 정확히 알려진 바가 없으며 국내에 서는 보고된 예가 없다. 저자들은 최근 경추부 척추옆근 육에 대한 침근전도 검사 후 기흉이 발생한 1예를 경험하 였기에 이를 보고하는 바이다. 증 례

Colchicine is a drug used for the treatment of acute gouty arthritis or various autoimmune diseas... more Colchicine is a drug used for the treatment of acute gouty arthritis or various autoimmune diseases. Gastrointestinal adverse effects such as abdominal pain and vomiting are the common side effects of the drug, but rarely myopathy has been reported to occur particularly in renal recipients who were treated concomitantly with immunosuppressants. Herein, we report a case who presented with acute myopathy after treated with colchicine for acute gouty arthritis.

Bickerstaff’ s brainstem encephalitis (BBE) is a rare disorder with acute ophthalmoparesis, ataxi... more Bickerstaff’ s brainstem encephalitis (BBE) is a rare disorder with acute ophthalmoparesis, ataxia, consciousness disturbance, and pyramidal signs of suspected autoimmune origin. A-62-year-old woman developed acute diplopia, dysarthria, gaze-paretic nystagmus and gait ataxia. Her mental status fell subsequently into stupor. Brain MRI and nerve conduction study showed no significantly abnormal findings. Electroencephalography revealed diffuse low voltage slowings. After treating with intravenous immunoglobulin, she demonstrated rapid clinical recovery. This case suggests that immunoglobulin can be an alternative option in BBE treatment, especially when plasmapheresis and corticosteroids are difficult or contraindicated.

Scientific Reports, 2020

Disproportionate muscle atrophy is a distinct phenomenon in amyotrophic lateral sclerosis (ALS); ... more Disproportionate muscle atrophy is a distinct phenomenon in amyotrophic lateral sclerosis (ALS); however, preferentially affected leg muscles remain unknown. We aimed to identify this split-leg phenomenon in ALS and determine its pathophysiology. Patients with ALS (n = 143), progressive muscular atrophy (PMA, n = 36), and age-matched healthy controls (HC, n = 53) were retrospectively identified from our motor neuron disease registry. We analyzed their disease duration, onset region, ALS Functional Rating Scale-Revised Scores, and results of neurological examination. Compound muscle action potential (CMAP) of the extensor digitorum brevis (EDB), abductor hallucis (AH), and tibialis anterior (TA) were reviewed. Defined by CMAPEDB/CMAPAH (SIEDB) and CMAPTA/CMAPAH (SITA), respectively, the values of split-leg indices (SI) were compared between these groups. SIEDB was significantly reduced in ALS (p < 0.0001) and PMA (p < 0.0001) compared to the healthy controls (HCs). SITA reducti...

Scientific Reports, 2020

Recent large-scale genome-wide association studies have identified common genetic variations that... more Recent large-scale genome-wide association studies have identified common genetic variations that may contribute to the risk of amyotrophic lateral sclerosis (ALS). However, pinpointing the risk variants in noncoding regions and underlying biological mechanisms remains a major challenge. Here, we constructed a convolutional neural network model with a large-scale GWAS meta-analysis dataset to unravel functional noncoding variants associated with ALS based on their epigenetic features. After filtering and prioritizing of candidates, we fine-mapped two new risk variants, rs2370964 and rs3093720, on chromosome 3 and 17, respectively. Further analysis revealed that these polymorphisms are associated with the expression level of CX3CR1 and TNFAIP1, and affect the transcription factor binding sites for CTCF, NFATc1 and NR3C1. Our results may provide new insights for ALS pathogenesis, and the proposed research methodology can be applied for other complex diseases as well.

Journal of Korean Society for Clinical Pharmacology and Therapeutics, 2005

Background : Mesoglycan, a preparation of natural glycosaminoglycans, has pleiotropic protective ... more Background : Mesoglycan, a preparation of natural glycosaminoglycans, has pleiotropic protective effects on cerebral vasculature, including anti-thrombotic, fibrinolytic and anti-atherogenic activity. It also has shown a feasible potential in the secondary prevention for cerebral ischemia. In this study, we investigated the effect of mesoglycan and aspirin combination on fibrinogen levels in patients with previous ischemic stroke. Methods : Patients with previous ischemic stroke were randomly assigned as either mesoglycan group (mesoglycan 50mg twice daily + aspirin 300mg once daily) or control group (placebo twice daily + aspirin 300mg once daily), and treated in double-blinded manner. Efficacy variable included the fibrinogen level, which was checked on every visit for 8 weeks (at the second, forth and eighth week). Results : Forty-five outpatients (22 control group and 23 mesoglycan group) were included and analyzed. There was no significant difference in the baseline characteristics, including age, sex, baseline fibrinogen and cholesterol profiles, between the mesoglycan group and the control group. No clinical or laboratory adverse effects were reported in the mesoglycan group, while two non-treatment emerging adverse effects were reported in the control group. Mesoglycan group exerted no significant change of the fibrinogen level compared with the control group. Conclusions : In this study, mesoglycan and aspirin combination in patients with previous cerebral ischemia showed a favorable tolerability without any adverse effects. However, to verify the efficacy of mesoglycan and aspirin combination on the fibrinolytic system or the secondary prevention, further study is warran ted based on a larger scaled subjects and long-term period.

BioMed Research International, 2017

Glycogen synthase kinase-3β (GSK-3β) inhibitors have been suggested as a core regulator of apopto... more Glycogen synthase kinase-3β (GSK-3β) inhibitors have been suggested as a core regulator of apoptosis and have been investigated as therapeutic agents for neurodegenerative diseases, including amyotrophic lateral sclerosis. However, GSK-3β has an interesting paradoxical effect of being proapoptotic during mitochondrial-mediated intrinsic apoptosis but antiapoptotic during death receptor-mediated extrinsic apoptosis. We assessed the effect of low to high doses of a GSK-3β inhibitor on survival and apoptosis of the NSC-34 motor neuron-like cell line after serum withdrawal. Then, we identified changes in extrinsic apoptosis markers, including Fas, Fas ligand, cleaved caspase-8, p38α, and the Fas-Daxx interaction. The GSK-3β inhibitor had an antiapoptotic effect at the low dose but was proapoptotic at the high dose. Proapoptotic effect at the high dose can be explained by increased signals in cleaved caspase-8 and the motor neuron-specific p38α and Fas-Daxx interaction. Our results sugge...

Background: The results of a routine nerve conduction study (NCS) are sometimes normal in diabeti... more Background: The results of a routine nerve conduction study (NCS) are sometimes normal in diabetic patients with clinical manifestations of sensory polyneuropathy, especially in the early stage. We report on the value of a plantar NCS in diabetic sensory polyneuropathy with normal results from a routine NCS. Methods: Mixed nerve conduction data in the medial and lateral plantar nerves of both feet were obtained orthodromically in 47 normal subjects and 30 patients with diabetic sensory polyneuropathies with normal results from a routine NCS. The latency and amplitude of compound nerve action potentials (CNAPs) of plantar nerves were normal in the normal subjects. The results of a plantar NCS in the patient group were compared with these normal values. Results: Nerve conduction abnormalities were found in 14 patients (46.7%). The rates of abnormal findings were 33.3% (20 of 60 nerves) and 31.7% (19 of 60 nerves) in the medial and lateral plantar nerves, respectively. A definite polyneuropathy pattern was found in 10 patients (33.3%). The CNAP amplitude was low or absent in 12 patients (85.7%) with abnormal nerve conduction, and 8 patients (57.1%) showed a prolonged CNAP latency. Conclusions: A plantar NCS is useful for detecting nerve conduction abnormalities in diabetic sensory polyneuropathy when normal results are obtained from a routine NCS. The diagnostic sensitivity of a routine NCS can be significantly increased by adding a plantar NCS when evaluating patients with sensory polyneuropathies, especially in the early stage.