Byung-Nam Yoon

The Effect of Cognitive Training in Patients with Mild Cognitive Impairment and Early Alzheimer's Disease: A Preliminary Study

Background and Purpose The objective of this study was to determine the benefits of cognitive training in patients with amnestic mild cognitive impairment (aMCI) and those with early Alzheimers disease (AD). Methods Eleven patients with aMCI and nine with early AD (stage 4 on the Global Deterioration Scale) participated in this study. Six participants with aMCI and six with AD were allocated to the cognitive training group, while five participants with aMCI and three with AD were allocated to a wait-list control group. Multicomponent cognitive training was administered in 18 weekly, individual sessions. Outcome measures were undertaken at baseline, and at 2 weeks and 3 months of follow-up. Results In the trained MCI group, there were significant improvements in the delayed-recall scores on the Seoul Verbal Learning Test at both the 2-week and 3-month follow-ups compared with baseline (baseline, 1.6±1.5; 2 weeks, 4.4±1.5, p=0.04; 3 months, 4.6±2.3, p=0.04). The phonemic fluency scores (1.0±0.8 vs. 5.0±1.8, p=0.07) and Korean Mini-Mental State Examination scores (18.8±0.5 vs. 23.8±2.2, p=0.07) also showed a tendency toward improvement at the 2-week follow-up compared to baseline in the trained AD group. Conclusions This study provides evidence of the effectiveness of cognitive training in aMCI and early AD. The efficacy of cognitive training programs remains to be verified in studies with larger samples and a randomized design.

Comparison between Flail Arm Syndrome and Upper Limb Onset Amyotrophic Lateral Sclerosis: Clinical Features and Electromyographic Findings

Flail arm syndrome (FAS), an atypical presentation of amyotrophic lateral sclerosis (ALS), is characterized by progressive, predominantly proximal, weakness of upper limbs, without involvement of the lower limb, bulbar, or respiratory muscles. When encountering a patient who presents with this symptomatic profile, possible diagnoses include upper limb onset ALS (UL-ALS), and FAS. The lack of information regarding FAS may make differential diagnosis between FAS and UL-ALS difficult in clinical settings. The aim of this study was to compare clinical and electromyographic findings from patients diagnosed with FAS with those from patients diagnosed with UL-ALS. To accomplish this, 18 patients with FAS and 56 patients with UL-ALS were examined. Significant differences were observed between the 2 groups pertaining to the rate of fasciculation, patterns of predominantly affected muscles, and the Medical Research Council scale of the weakest muscle. The presence of upper motor neuron signs and lower motor neuron involvement evidenced through electromyography showed no significant between-group differences.

Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation

We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G. A 38-year-old woman presented with optic neuropathy, weakness and cognitive impairment. Family history of optic neuropathy and systemic involvement was suggestive of mitochondrial encephalopathy. Genetic and radiologic studies showed m.8344 A>G mutation with characteristics of LS. To our knowledge this is the first case of adult-onset LS demonstrating the m.8344 A>G mutation.

Altered nucleocytoplasmic proteome and transcriptome distributions in an in vitro model of amyotrophic lateral sclerosis

Aberrant nucleocytoplasmic localization of proteins has been implicated in many neurodegenerative diseases. Evidence suggests that cytoplasmic mislocalization of nuclear proteins such as transactive response DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) may be associated with neurotoxicity in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. This study investigated the changes in nucleocytoplasmic distributions of the proteome and transcriptome in an in vitro model of ALS. After subcellular fractionation of motor neuron-like cell lines expressing wild-type or G93A mutant hSOD1, quantitative mass spectrometry and next-generation RNA sequencing (RNA-seq) were performed for the nuclear and cytoplasmic compartments. A subset of the results was validated via immunoblotting. A total of 1,925 proteins were identified in either the nuclear or cytoplasmic fractions, and 32% of these proteins were quantified in both fractions. The nucleocytoplasmic distribution of 37 proteins was significantly changed in mutant cells with nuclear and cytoplasmic shifts in 13 and 24 proteins, respectively (p<0.05). The proteins shifted towards the nucleus were enriched regarding pathways of RNA transport and processing (Dhx9, Fmr1, Srsf3, Srsf6, Tra2b), whereas protein folding (Cct5, Cct7, Cct8), aminoacyl-tRNA biosynthesis (Farsb, Nars, Txnrd1), synaptic vesicle cycle (Cltc, Nsf), Wnt signalling (Cltc, Plcb3, Plec, Psmd3, Ruvbl1) and Hippo signalling (Camk2d, Plcb3, Ruvbl1) pathways were over-represented in the proteins shifted to the cytoplasm. A weak correlation between the changes in protein and mRNA levels was found only in the nucleus, where mRNA was relatively abundant in mutant cells. This study provides a comprehensive dataset of the nucleocytoplasmic distribution of the proteome and transcriptome in an in vitro model of ALS. An integrated analysis of the nucleocytoplasmic distribution of the proteome and transcriptome demonstrated multiple candidate pathways including RNA processing/transport and protein synthesis and folding that may be relevant to the pathomechanism of ALS.

Takotsubo cardiomyopathy in amyotrophic lateral sclerosis

OBJECTIVE To investigate the frequency, features, and prognosis of takotsubo cardiomyopathy (TTC) in patients with amyotrophic lateral sclerosis (ALS). METHODS We reviewed detailed clinical, laboratory, and cardiovascular data from 64 ALS patients (38 men and 26 women) who underwent echocardiographic evaluation for various reasons at a single referral center between January 2011 and December 2015. RESULTS TTC was diagnosed in 9 ALS patients (4 men and 5 women). Mean age was 61.3years (range 55-71years), and median disease duration was 51.5months (range 18-134months). All patients were bulbar or cervical onset, and were at advanced stages of ALS when TTC was diagnosed. Acute exacerbation of dyspnea was an invariable presentation, and chest discomfort mimicking acute coronary syndrome was present in 2 patients. Six patients had significant hypotension requiring intravenous fluid challenge and inotropic support. Three patients showed altered mentality, and 2 of them suffered cardiopulmonary arrest. CONCLUSIONS TTC should be suspected in ALS patients presenting with acute exacerbation of dyspnea and chest discomfort, particularly at advanced stages of the disease. This study highlights the need for proper evaluation and management of cardiac dysfunction in ALS.

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation

Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons. Mutations in the Cu/Zn superoxide dismutase gene (SOD1) account for about 20% of familial ALS cases and a small percentage of sporadic ALS (SALS) cases, and have revealed a validated genotype-phenotype correlation. Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons. A 48-year-old man presented with progressive weakness and muscle atrophy of the left upper and lower limbs, followed by muscle fasciculation and cramping. The clinical features of the patient were clearly suggestive of ALS, and implied a sporadic form with rapid progression, predominantly affecting the lower motor neurons. Sequencing of the SOD1 gene by PCR revealed a missense mutation of G to C (c.37G>C) in exon 1, and amino acid substitution of glycine by arginine (p.Gly13Arg). This is the first case identifying the p.Gly13Arg mutation of SOD1 in the Korean population, and clinical assessments of this patient revealed a different phenotype compared with other cases.

Roving Eye Movements in a Patient with Central Nervous System Infection

Received December 6, 2017 Revised January 10, 2018 Accepted January 10, 2018 Address for correspondence: Byung-Nam Yoon, MD Department of Neurology, Seoul Paik Hospital, Inje University College of Medicine, 9 Mareunnae-ro, Jung-gu, Seoul 04551, Korea Tel: +82-2-2270-0045 Fax: +82-2-2270-0045 E-mail: nrybn1230@gmail.com 당뇨, 간경화가 있는 54세 남자가 고열과 혼미로 내원하였다. 뇌 전산화단층촬영, 자기공명영상에서 뇌실로 파열된 뇌농양과 뇌실 염, 수막뇌염 소견이 있었다(Fig.). 광범위항생제를 투여함에도 뇌

Symptomatic Narcolepsy in Sjögren Syndrome

Narcolepsy is a debilitating sleep disorder typically characterized by excessive daytime sleepiness with or without cataplexy. The symptoms of narcolepsy can occur during the course of other neurological conditions (i.e., symptomatic narcolepsy), such as inherited disorders, tumors, and head trauma 1. Herein, we describe an unusual case of Sjogren syndrome (SS) presented as narcolepsy …

Is antiplatelet treatment effective at attenuating the progression of white matter hyperintensities

Objective We performed this study to assess the effect of an antiplatelet agent on the progression of white matter hyperintensities (WMH). Methods From August 2003 to May 2005, we consecutively enrolled patients who underwent brain magnetic resonance imaging (MRI) for health check-up purposes and showed no significant findings other than WMH of any degree. Patients were divided into two groups based on whether or not they received antiplatelet therapy. All patients had a follow-up brain MRI after 5 years and WMH volume change was measured using imaging analysis software. To minimize selection bias potentially arising from antiplatelet treatment assignment, analyses were inverse probability weighted. Results Among the 93 patients who met the inclusion criteria, 54 patients (58.1%) were grouped as the antiplatelet group (AG), and the remaining 39 patients (41.9%) as the non-antiplatelet group (NAG). After inverse propensity weighting, all baseline characteristics were similar between the two groups, and antiplatelet treatment did not show any significant effect on the total WMH volume change (p = 0.957). Conclusion Antiplatelet medication may not alter the progression of WMH.

Subcoracoid bursitis presenting with brachial plexopathy involving the posterior cord

Department of Neurology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Republic of Korea Department of Neurology, Inha University Hospital, Inha University College of Medicine, Incheon, Republic of Korea Department of Neurology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea. Department of Orthopaedic Surgery, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Republic of Korea Address for correspondence: Suk-Won Ahn, MD., PhD., Department of Neurology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, 224-1 Heukseok-dong, Dongjak-gu, Seoul, Republic of Korea.. Tel: +82-2-6299-3153 Fax: +82-2-6299-3153 E-mail: icandr@hanmail.net