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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease.

Jay Chol CHOI

Journal of Clinical Neurology.2010;6(1):1-9. doi:10.3988/jcn.2010.6.1.1

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

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Pathophysiology of Stroke in the Contralateral Posterior Cerebral Artery Distribution from a Tentorial Herniation.

Mustafa ANSARI ; Gregory Youngnam CHANG

Journal of Clinical Neurology.2017;13(1):101-102. doi:10.3988/jcn.2017.13.1.101

No abstract available.
Posterior Cerebral Artery* ; Stroke*

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Prolonged Effect of OnabotulinumtoxinA on Chronic Migraine in 87 Koreans.

Jung Ick BYUN ; Ji Young SIM ; Manho KIM

Journal of Clinical Neurology.2017;13(1):98-100. doi:10.3988/jcn.2017.13.1.98

No abstract available.
Migraine Disorders*

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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.

Seena VENGALIL ; Veeramani PREETHISH-KUMAR ; Kiran POLAVARAPU ; Manjunath MAHADEVAPPA ; Deepha SEKAR ; Meera PURUSHOTTAM ; Priya Treesa THOMAS ; Saraswathi NASHI ; Atchayaram NALINI

Journal of Clinical Neurology.2017;13(1):91-97. doi:10.3988/jcn.2017.13.1.91

BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. METHODS: A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India. RESULTS: The 317 patients comprised 279 cases of DMD (88%), 32 of BMD (10.1%), and 6 of intermediate phenotype (1.9%). Deletions accounted for 91.8% of cases, with duplications causing the remaining 8.2%. There were 254 cases of DMD (91%) with deletions and 25 (9%) due to duplications, and 31 cases (96.8%) of BMD with deletions and 1 (3.2%) due to duplication. All six cases of intermediate type were due to deletions. The most-common mutation was a single-exon deletion. Deletions of six or fewer exons constituted 68.8% of cases. The deletion of exon 50 was the most common. The reading-frame rule held in 90% of DMD and 94% of BMD cases. A tendency toward a lower IQ and earlier wheelchair dependence was observed with distal exon deletions, though a significant correlation was not found. CONCLUSIONS: The reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant dystrophin is needed for more-accurate assessments of the genotype-phenotype correlation.
Child ; Cohort Studies* ; Dystrophin ; Exons ; Genetic Association Studies* ; Genotype ; Humans ; India ; Multiplex Polymerase Chain Reaction* ; Muscular Dystrophy, Duchenne* ; Phenotype ; Reading Frames ; Referral and Consultation ; Retrospective Studies ; Wheelchairs

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Human Umbilical Cord Blood CD34-Positive Cells as Predictors of the Incidence and Short-Term Outcome of Neonatal Hypoxic-Ischemic Encephalopathy: A Pilot Study.

Sahar M A HASSANEIN ; Mohamed Hassan NASR ELDIN ; Hanaa A AMER ; Adel E ABDELHAMID ; Moustafa EL HOUSSINIE ; Abir IBRAHIM

Journal of Clinical Neurology.2017;13(1):84-90. doi:10.3988/jcn.2017.13.1.84

BACKGROUND AND PURPOSE: Neonatal hypoxic-ischemic encephalopathy (HIE) is one of the leading causes of neurological handicap in developing countries. Human umbilical cord blood (hUCB) CD34-positive (CD34⁺) stem cells exhibit the potential for neural repair. We tested the hypothesis that hUCB CD34⁺ stem cells and other cell types [leukocytes and nucleated red blood cells (NRBCs)] that are up-regulated during the acute stage of perinatal asphyxia (PA) could play a role in the early prediction of the occurrence, severity, and mortality of HIE. METHODS: This case-control pilot study investigated consecutive neonates exposed to PA. The hUCB CD34⁺ cell count in mononuclear layers was assayed using a flow cytometer. Twenty full-term neonates with PA and 25 healthy neonates were enrolled in the study. RESULTS: The absolute CD34⁺ cell count (p=0.02) and the relative CD34⁺ cell count (CD34+%) (p<0.001) in hUCB were higher in the HIE patients (n=20) than the healthy controls. The hUCB absolute CD34⁺ cell count (p=0.04), CD34⁺% (p<0.01), and Hobel risk scores (p=0.04) were higher in patients with moderate-to-severe HIE (n=9) than in those with mild HIE (n=11). The absolute CD34⁺ cell count was strongly correlated with CD34⁺% (p<0.001), Hobel risk score (p=0.04), total leukocyte count (TLC) (p<0.001), and NRBC count (p=0.01). CD34+% was correlated with TLC (p=0.02). CONCLUSIONS: hUCB CD34⁺ cells can be used to predict the occurrence, severity, and mortality of neonatal HIE after PA.
Asphyxia ; Case-Control Studies ; Cell Count ; Developing Countries ; Erythrocytes ; Fetal Blood* ; Humans* ; Hypoxia-Ischemia, Brain* ; Incidence* ; Infant, Newborn ; Leukocyte Count ; Mortality ; Pilot Projects* ; Stem Cells ; Umbilical Cord*

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Clinical Characteristics and Treatment Response of Peripheral Neuropathy in the Presence of Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome): Experience at a Single Tertiary Center.

Hye Jin CHO ; Sehyo YUNE ; Jin Myoung SEOK ; Eun Bin CHO ; Ju Hong MIN ; Yeon Lim SEO ; Byung Jae LEE ; Byoung Joon KIM ; Dong Chull CHOI

Journal of Clinical Neurology.2017;13(1):77-83. doi:10.3988/jcn.2017.13.1.77

BACKGROUND AND PURPOSE: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic small-vessel vasculitis accompanied by asthma, eosinophilia, and eosinophilic inflammation of various tissues including the peripheral nerves. This study investigated the clinical course and long-term outcomes of peripheral neuropathy in patients with EGPA. METHODS: Seventy-one patients with physician-diagnosed EGPA were identified at Samsung Medical Center between January 1995 and April 2014. Sixty-one of these patients were followed-up for more than 1 year and received corticosteroid therapy with or without intravenous cyclophosphamide pulse therapy for 6 to 18 months. Medical records of the 61 patients including demographic data, clinical features, laboratory and pathological findings, treatments, and outcomes were reviewed. RESULTS: Peripheral neuropathy as a manifestation of EGPA was present in 46 (75%) of the 61 patients. The mean follow-up duration of the patients with neuropathy was 6.4 years (range 1.2–18.8 years). The scores on the neurological functional disability scale before and after the combination treatment with corticosteroid and cyclophosphamide were 2.43±0.86 and 0.54±0.95 (mean±SD; p<0.001), respectively. The peripheral neuropathy relapsed in one patient. CONCLUSIONS: The long-term clinical outcome of peripheral neuropathy in patients with EGPA receiving initial corticosteroid and cyclophosphamide combination therapy was favorable with a very low relapse rate.
Asthma ; Cyclophosphamide ; Eosinophilia ; Eosinophils* ; Follow-Up Studies ; Granulomatosis with Polyangiitis* ; Humans ; Inflammation ; Medical Records ; Peripheral Nerves ; Peripheral Nervous System Diseases* ; Prognosis ; Recurrence ; Vasculitis

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Migraine Susceptibility Genes in Han Chinese of Fujian Province.

Qi Fang LIN ; Zi Chun CHEN ; Xian Guo FU ; Jing YANG ; Luo Yuan CAO ; Long Teng YAO ; Yong Tong XIN ; Gen Bin HUANG

Journal of Clinical Neurology.2017;13(1):71-76. doi:10.3988/jcn.2017.13.1.71

BACKGROUND AND PURPOSE: Five single-nucleotide polymorphisms (SNPs) (rs4379368, rs10504861, rs10915437, rs12134493 and rs13208321) were recently identified in a Western population with migraine. These migraine-associated SNPs have not been evaluated in a Han Chinese population. This study investigated the associations of specific SNPs with migraine in a Han population. METHODS: This was a case-control study of Han Chinese residing in Fujian Province. Polymerase chain reaction—restriction-fragment-length polymorphism analysis and direct sequencing were used to characterize the relationships of SNPs in a control group of 200 subjects and in a migraine group of 201 patients. RESULTS: The frequencies of the five SNPs did not differ between patients with migraine and healthy non migraine controls. However, subgroup analysis indicated certain SNPs were more strongly associated with migraine with aura or migraine without aura than with controls. The CT genotype of rs4379368 was more common in migraine patients with aura (75%) than in migraine patients without aura (47.9%) and controls (48.5%) (p<0.05), and the TT genotype of rs10504861 was more common in migraine patients with aura than in controls (8.3% vs. 0.5%) (p<0.05). Meanwhile, the CC genotype of rs12134493 was less common in migraine patients without aura than in controls (80.6% vs. 88%) (p<0.05). CONCLUSIONS: Our findings suggest that the rs4379368 and rs10504861 SNPs are markers for susceptibility to migraine with aura and that rs12134493 is a marker for the risk of migraine without aura in this Han population. Future studies should further explore if these associations vary by ethnicity.
Asian Continental Ancestry Group* ; Case-Control Studies ; Epilepsy ; Genotype ; Humans ; Migraine Disorders* ; Migraine with Aura ; Migraine without Aura ; Polymorphism, Single Nucleotide

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SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

Thi Thu Hang DO ; Diem My VU ; Thi Thuy Kieu HUYNH ; Thi Khanh Van LE ; Eun Hwa SOHN ; Thieu Mai Thao LE ; Huu Hao HA ; Chi Bao BUI

Journal of Clinical Neurology.2017;13(1):62-70. doi:10.3988/jcn.2017.13.1.62

BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS: Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity. RESULTS: We identified 13 pathogenic or likely pathogenic variants, including 6 that have not been reported previously. We found no correlations between the presence or type of SCN1A variants and the level of adaptive functioning impairment or severity of epilepsy. Only two of nine patients aged at least 5 years had an adaptive functioning score higher than 50. Both of these patients had a low frequency of convulsive seizures and no history of status epilepticus or prolonged seizures. The remaining seven had very low adaptive functioning scores (39 or less) despite the variability in the severity of their epilepsy confirming the involvement of factors other than the severity of epilepsy in determining the developmental outcome. CONCLUSIONS: Our study expands the spectrum of known SCN1A variants and confirms the current understanding of the role of the genetic background and epilepsy severity in determining the developmental outcome of Dravet syndrome patients.
Adaptation, Psychological ; Asian Continental Ancestry Group* ; Child* ; Epilepsies, Myoclonic* ; Epilepsy ; Genetic Background ; Humans ; Infant ; Intellectual Disability ; Multiplex Polymerase Chain Reaction ; Population Characteristics ; Seizures ; Status Epilepticus ; Weights and Measures

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Association between Stroke Status and Depression in a Community Setting: The 2014 Korea National Health and Nutrition Examination Survey.

Mina KIM ; Gyung Jae OH ; Young Hoon LEE

Journal of Clinical Neurology.2017;13(1):55-61. doi:10.3988/jcn.2017.13.1.55

BACKGROUND AND PURPOSE: Previous studies have examined the risk factors for depression in stroke patients, but little information is available on the relationship between stroke status and depression in the community-dwelling general population. We evaluated the association between stroke status and depression using representative nationwide data. METHODS: In total, 3,487 subjects (aged ≥40 years) who participated in version VI-2 of the sixth Korea National Health and Nutrition Examination Survey (KNHANES) performed in 2014 were included. We compared the prevalence of depression in 120 community-dwelling stroke patients and 3,367 nonstroke controls using the nine-item Patient Health Questionnaire (PHQ-9). RESULTS: The prevalence of depression (PHQ-9 score ≥10) was 16.7% in stroke patients and 6.4% in controls. In the unadjusted model, depression was more common in stroke patients than in nonstroke controls [odds ratio (OR), 2.95; 95% confidence interval (CI), 1.79–4.86]. After adjusting for demographic characteristics, socioeconomic status, health-related behaviors, and comorbidities, stroke diagnosis was a significant risk factor for depression (OR, 1.85; 95% CI, 1.06–3.24). Specifically, a diagnosis of stroke in patients aged <60 years (OR, 3.82; 95% CI, 1.81–8.09) and the presence of stroke complications (OR, 2.77; 95% CI, 1.25–6.13) remained significant risk factors for depression even after adjusting for potential confounders. CONCLUSIONS: In a community setting, poststroke survivors had a higher prevalence of depression, and stroke was an independent risk factor for depression. Public psychosocial interventions are needed to improve the mental health care of community-dwelling stroke survivors.
Comorbidity ; Depression* ; Diagnosis ; Humans ; Korea* ; Mental Health ; Nutrition Surveys* ; Prevalence ; Risk Factors ; Social Class ; Stroke* ; Survivors

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Desensitization to Oxcarbazepine: Long-Term Efficacy and Tolerability.

Jiwon LEE ; Eu Gene PARK ; Munhyang LEE ; Jeehun LEE

Journal of Clinical Neurology.2017;13(1):47-54. doi:10.3988/jcn.2017.13.1.47

BACKGROUND AND PURPOSE: Antiepileptic drug (AED)-associated cutaneous adverse drug reactions can lead to the discontinuation of medications. The aim of this study was to determine the long-term efficacy and safety of performing desensitization to oxcarbazepine. METHODS: This study involved 20 patients who exhibited cutaneous adverse drug reactions associated with oxcarbazepine use between July 2009 and March 2016 at Samsung Medical Center. All of the participants had to discontinue oxcarbazepine despite presenting initially positive responses. Human leukocyte antigen genotyping was performed to detect the genetic predisposition to Stevens-Johnson syndrome. The desensitization to oxcarbazepine was performed with a starting dosage of 0.1 mg/day. Efficacy was evaluated by comparing the frequency of seizures before and at 1 and 3 years after desensitization. Adverse events occurring during desensitization and the retention rate after desensitization were also investigated. RESULTS: Nineteen patients (95%) safely completed the desensitization protocol. One withdrew owing to emotional problems that appeared to be associated with oxcarbazepine. The follow-up period was 4.6±1.2 years (mean±SD), and oxcarbazepine was maintained for more than 3 years after desensitization in 15 patients (83.3%). The response rates were 84.2% and 77.8% at 1 and 3 years after desensitization, respectively. Eight patients remained seizure-free for 3 years, and two discontinued all AEDs. Transient adverse reactions such as mild rash and itching were reported by five patients during desensitization. CONCLUSIONS: This study has demonstrated the long-term efficacy and safety of desensitization to oxcarbazepine in patients exhibiting cutaneous adverse drug reactions. This favorable outcome should encourage the implementation of desensitization in patients presenting with hypersensitivity to oxcarbazepine as an alternative strategy in clinical practice.
Drug Resistant Epilepsy ; Drug-Related Side Effects and Adverse Reactions ; Exanthema ; Follow-Up Studies ; Genetic Predisposition to Disease ; Humans ; Hypersensitivity ; Leukocytes ; Pruritus ; Seizures ; Stevens-Johnson Syndrome

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