1.Genetics of Cerebral Small Vessel Disease.
Journal of Stroke 2015;17(1):7-16
Cerebral small vessel disease (SVD) is an important cause of stroke and cognitive impairment among the elderly and is a more frequent cause of stroke in Asia than in the US or Europe. Although traditional risk factors such as hypertension or diabetes mellitus are important in the development of cerebral SVD, the exact pathogenesis is still uncertain. Both, twin and family history studies suggest heritability of sporadic cerebral SVD, while the candidate gene study and the genome-wide association study (GWAS) are mainly used in genetic research. Robust associations between the candidate genes and occurrence of various features of sporadic cerebral SVD, such as lacunar infarction, intracerebral hemorrhage, or white matter hyperintensities, have not yet been elucidated. GWAS, a relatively new technique, overcomes several shortcomings of previous genetic techniques, enabling the detection of several important genetic loci associated with cerebral SVD. In addition to the more common, sporadic cerebral SVD, several single-gene disorders causing cerebral SVD have been identified. The number of reported cases is increasing as the clinical features become clear and diagnostic examinations are more readily available. These include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, COL4A1-related cerebral SVD, autosomal dominant retinal vasculopathy with cerebral leukodystrophy, and Fabry disease. These rare single-gene disorders are expected to play a crucial role in our understanding of cerebral SVD pathogenesis by providing animal models for the identification of cellular, molecular, and biochemical changes underlying cerebral small vessel damage.
Aged
;
Asia
;
CADASIL
;
Cerebral Hemorrhage
;
Cerebral Small Vessel Diseases*
;
Diabetes Mellitus
;
Europe
;
Fabry Disease
;
Genetic Association Studies
;
Genetic Loci
;
Genetic Research
;
Genetic Techniques
;
Genetics*
;
Genome-Wide Association Study
;
Humans
;
Hypertension
;
Leukoencephalopathies
;
Models, Animal
;
Retinaldehyde
;
Risk Factors
;
Stroke
;
Stroke, Lacunar
2.Validation of Stroke and Thrombolytic Therapy in Korean National Health Insurance Claim Data.
Journal of Clinical Neurology 2016;12(1):42-48
BACKGROUND AND PURPOSE: The claims data of the Korean National Health Insurance (NHI) system can be useful in stroke research. The aim of this study was to validate the accuracy of hospital discharge data used for NHI claims in identifying acute stroke and use of thrombolytic therapy. METHODS: The hospital discharge data of 1,811 patients with stroke-related diagnosis codes were obtained from Jeju National University Hospital (JNUH) and Seoul Medical Center (SMC). Three algorithms were tested to identify discharges with acute stroke [ischemic stroke (IS), intracranial hemorrhage (ICH), or subarachnoid hemorrhage (SAH)]: 1) all diagnosis codes up to nine positions, 2) one primary diagnosis and one secondary diagnosis, and 3) only one primary diagnosis code. Reviews of medical records were considered the gold standards. RESULTS: Overall, the degree of agreement (kappa) was higher for algorithms 1 and 2 than for algorithm 3, and the sensitivity and specificity of the first two algorithms for IS and SAH were both >90%, with almost perfect agreement (kappa=0.83-0.84) in the JNUH data set. Regarding ICH, only algorithm 1 yielded an almost perfect agreement (kappa=0.82). In the SMC data set, almost perfect agreement was found for both ICH and SAH in all three algorithms. In contrast, the three algorithms yielded a range of agreement levels, though all substantial, for IS. Almost perfect agreement was obtained for use of thrombolytic therapy in both data sets (kappa=0.91-0.99). CONCLUSIONS: Discharge with hemorrhagic stroke and use of thrombolytic therapy were identified with high reliability in administrative discharge data. A substantial level of agreement was also obtained for IS, despite variation between the algorithms and data sets.
Data Collection
;
Dataset
;
Diagnosis
;
Hospital Records
;
Humans
;
Intracranial Hemorrhages
;
Medical Records
;
National Health Programs*
;
Sensitivity and Specificity
;
Seoul
;
Stroke*
;
Subarachnoid Hemorrhage
;
Thrombolytic Therapy*
3.Striopallidodentate Calcinosis: Association with Hypothyroidism?.
Sa Yoon KANG ; Jay Chol CHOI ; Ji Hoon KANG
Journal of the Korean Neurological Association 2007;25(2):206-208
Bilateral striopallidodentate calcinosis involves calcification of the basal ganglia and dentate nuclei of the cerebellum. On occasion it may be associated with either hypoparathyroidism or pseudohypoparathyroidism. We report a 52-year-old woman with enduring dysarthria. She had bilateral calcification of the basal ganglia, thalamus, and dentate nuclei on a brain CT. She also had hypothyroidism. Familial study including her son and daughter was negative. We emphasize the need to evaluate the thyroid function in patients with specific intracranial calcifications.
Basal Ganglia
;
Brain
;
Calcinosis*
;
Cerebellum
;
Dysarthria
;
Female
;
Humans
;
Hypoparathyroidism
;
Hypothyroidism*
;
Middle Aged
;
Nuclear Family
;
Pseudohypoparathyroidism
;
Thalamus
;
Thyroid Gland
4.Association between Polymorphisms in Toll-like Receptor 9 Gene and Outcomes after Ischemic Stroke.
Jay Chol CHOI ; Keun Hwa LEE ; Young Ree KIM ; Chang Seok KI
Journal of Bacteriology and Virology 2015;45(3):242-249
Several evidences suggested that Toll-like receptor 9 (TLR9) plays an important role in atherosclerosis and neuroprotection but the association between the TLR9 and risk for stroke or outcomes after stroke has not been investigated. The aim of the present study was to investigate the association between TLR9 polymorphisms and the risk for ischemic stroke using a case-control study design. We also explored the correlation between the polymorphisms and outcomes after stroke. We enrolled consecutive Korean stroke patients and controls without history of stroke. Four polymorphisms, namely c.-1486T>C, c.-1237C>T, c.1174A>G, and c.2848G>A were examined using polymerase chain reaction followed by direct sequencing. Initially we examined 193 stroke patients and the same number of healthy adults who had no history of stroke as controls. Due to deviation from Hardy-Weinberg equilibrium of initial controls, we performed genetic analysis of two polymorphisms (c.1174A>G and c.2848G>A) for additional 165 controls. The genotype frequency of four polymorphisms did not differ significantly between stroke patients and controls in unadjusted analysis. The variant allele (C) in c.-1486 locus was associated with significantly increased chance of favorable functional outcome at three month after stroke (OR 2.32, 95% CI 1.02~5.26, p = 0.043).
Adult
;
Alleles
;
Atherosclerosis
;
Case-Control Studies
;
Genotype
;
Humans
;
Polymerase Chain Reaction
;
Stroke*
;
Toll-Like Receptor 9*
;
Toll-Like Receptors*
5.Two Cases of Hypertensive Encephalopathy Involving the Brainstem.
Sa Yoon KANG ; Jay Chol CHOI ; Ji Hoon KANG
Journal of Clinical Neurology 2007;3(1):50-52
Hypertensive encephalopathy is a medical emergency whose clinical manifestations are usually associated with bilateral parieto-occipital lesions. Predominant brainstem edema without accompanying occipital lesions is rare in hypertensive encephalopathy and usually occurs in patients with secondary hypertension. We describe the clinical and radiological features of two patients with reversible hypertensive brainstem encephalopathy. Both patients had chronic renal failure, but the extensive neuroimaging abnormalities revealed few clinical features of brainstem involvement. The clinical findings and neuroimaging abnormalities resolved once the hypertension was treated.
Brain Stem*
;
Edema
;
Emergencies
;
Humans
;
Hypertension
;
Hypertensive Encephalopathy*
;
Kidney Failure, Chronic
;
Neuroimaging
6.Percutaneous Transluminal Angioplasty of Intracranial Artery for the Treatment of Acute Ischemic Stroke.
Journal of the Korean Neurological Association 2004;22(6):638-642
Although the results of intra-arterial thrombolysis for the treatment of acute ischemic stroke have been encouraging, the failure of arterial recanalization and intracranial hemorrhage were unresolved problems of this procedure. Because of this limitation, there has been increasing interest in the use of percutaneous transluminal angioplasty (PTA). Recently, we have treated three patients with acute ischemic stroke using PTA of the intracranial artery. Although the arterial recanalization was achieved initially in all cases, only one patient showed clinical improvement.
Angioplasty*
;
Arteries*
;
Humans
;
Intracranial Hemorrhages
;
Stroke*
7.Terminal Latency Index of the Median Nerve: Normal Values and Relation to Carpal Tunnel Syndrome.
Sa Yoon KANG ; Jay Chol CHOI ; Ji Hoon KANG
Journal of the Korean Neurological Association 2004;22(6):609-612
BACKGROUND: The terminal latency index (TLI) is a calculated value that adjusts the distal motor latency for the terminal distance and the proximal motor nerve conduction velocity. The purpose of this study is to evaluate the sensitivity of the median TLI in the diagnosis of carpal tunnel syndrome (CTS) and compare it with other electrophysiological parameters. METHODS: We prospectively studied 32 patients with nerve conduction studies using a conventional surface technique in the median and ulnar nerves. The distal distance for the CMAP was measured in 5 cm using Oh's techniques. Based on the clinical diagnosis, 32 patients (59 hands) were judged to have CTS. Control data were obtained from 40 healthy hands utilizing identical techniques. RESULTS: The mean TLI was 0.24 +/- 0.04 in the CTS group and 0.30 +/- 0.02 in the control group (P<0.01). The 32 patients had a mean age of 57 years (SD +/- 13 years; 73% women). Twenty subjects with an average age of 46 years (SD +/- 15 years; 65% women) were evaluated for control data. The calculated lower limit of normal from the control group (mean-2SD) was 0.26. The sensitivity of the TLI was 73%. The TLI was statistically better than the median motor distal latency and sensory nerve conduction velocity in the second digit-wrist segment. In four patients from the CTS group, the TLI was the only abnormal electrophysiological parameter. CONCLUSIONS: The median TLI is an easy, inexpensive, highly informative test and is therefore extremely useful in the diagnostic work-up of patients with CTS.
Carpal Tunnel Syndrome*
;
Diagnosis
;
Hand
;
Humans
;
Median Nerve*
;
Neural Conduction
;
Prospective Studies
;
Reference Values*
;
Ulnar Nerve
8.Combined Facial and Contralateral Trochlear Nerve Palsy in a Patient with Diabetes Mellitus.
Chol Jay CHOI ; Sa Yoon KANG ; Ji Hoon KANG
Journal of the Korean Neurological Association 2006;24(2):166-168
There is an increasing number of reports that the lesion site in isolated cranial neuropathies may be the brainstem. The authors describe a diabetic patient with peripheral type facial palsy and concurrent trochlear palsy. Magnetic resonance imaging showed only a small pontine infarction responsible for the facial palsy. Multiple cranial nerve palsies seen in this patient might be a manifestation of multiple acute small infarcts involving both the brainstem and its cranial nerve root simultaneously.
Brain Stem
;
Brain Stem Infarctions
;
Cranial Nerve Diseases
;
Cranial Nerves
;
Diabetes Mellitus*
;
Facial Paralysis
;
Humans
;
Infarction
;
Magnetic Resonance Imaging
;
Paralysis
;
Trochlear Nerve Diseases*
;
Trochlear Nerve*
9.Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease.
Journal of Clinical Neurology 2010;6(1):1-9
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene. The exact prevalence of this disorder was unknown currently, and the number of reported CADASIL families is steadily increasing as the clinical picture and diagnostic examinations are becoming more widely known. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. The clinical course of CADASIL is highly variable, even within families. The involvement of the anterior temporal lobe and the external capsule on brain magnetic resonance imaging was found to have high sensitivity and specificity in differentiating CADASIL from the much more common sporadic cerebral small-vessel disease (SVD). The pathologic hallmark of the disease is the presence of granular osmiophilic material in the walls of affected vessels. CADASIL is a prototype single-gene disorder that has evolved as a unique model for studying the mechanisms underlying cerebral SVD. At present, the incidence and prevalence of CADASIL seem to be underestimated due to limitations in clinical, neuroradiological, and genetic diagnoses of this disorder.
Blood Vessels
;
Brain
;
CADASIL
;
Cerebral Small Vessel Diseases
;
Glycosaminoglycans
;
Humans
;
Incidence
;
Magnetic Resonance Imaging
;
Migraine Disorders
;
Prevalence
;
Sensitivity and Specificity
;
Stroke
;
Temporal Lobe
10.Evaluation of the Somatotopic Organization of Corticospinal Tracts in the Internal Capsule and Cerebral Peduncle: Results of Diffusion-Tensor MR Tractography.
Ji Kang PARK ; Bong Soo KIM ; Gukmyung CHOI ; Seung Hyoung KIM ; Jay Chol CHOI ; Hyunsoo KHANG
Korean Journal of Radiology 2008;9(3):191-195
OBJECTIVE: We have used diffusion tensor tractography (DTT) for the evaluation of the somatotopic organization of corticospinal tracts (CSTs) in the posterior limb of the internal capsule (PLIC) and cerebral peduncle (CP). MATERIALS AND METHODS: We imaged the brains of nine healthy right-handed subjects. We used a spin-echo echo-planar imaging (EPI) sequence with 12 diffusion-sensitized directions. DTT was calculated with an angular threshold of 35 degrees and a fractional anistropy (FA) threshold of 0.25. We determined the location of the CSTs by using two regions of interest (ROI) at expected areas of the pons and expected areas of the lateral half of the PLIC, in the left hemisphere of the brain. Fiber tracts crossing these two ROIs and the precentral gyrus (PCG) were defined as CSTs. Four new ROIs were then defined for the PCG, from the medial to lateral direction, as ROI 1 (medial) to ROI 4 (lateral). Finally, we defined each fiber tract of the CSTs between the pons and each ROI in the PCG by using two ROIs methods. RESULTS: In all subjects, the CSTs were organized along the long axis of the PLIC, and the hand fibers were located anterior to the foot fibers. The CSTs showed transverse orientation in the CP, and the hand fibers were located usually medial to the foot fibers. CONCLUSION: Corticospinal tracts are organized along the long axis of the PLIC and the horizontal direction of the CP.
Adult
;
Diffusion Magnetic Resonance Imaging/*methods
;
Female
;
Humans
;
Internal Capsule/*anatomy & histology
;
Male
;
Pyramidal Tracts/*anatomy & histology
;
Tegmentum Mesencephali/*anatomy & histology