[show abstract][hide abstract] ABSTRACT: BACKGROUND AND PURPOSE: Recently published, evidence-based guidelines should alter the management of amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). However, the newest recommendations for ALS/MND therapy are not reflected in actual clinical practice. We sought to evaluate the current status of the diagnosis and management of ALS in Korea. METHODS: The Korean ALS/MND research group was organized in 2010, involving more than 50 neurologists from neuromuscular centers in Korea. Participating centers collected data from April to September 2010 on the diagnosis and management of patients with ALS. Data forms from the ALS patient care database, which is a component of the ALS clinical assessment, research, and education program (http://www.outcomes-umassmed.org/ALS/), were modified and used for data collection. RESULTS: In total, 373 sporadic ALS cases from 35 centers were enrolled. The demographic features and clinical findings were similar to those in previous reports from other countries. The mean age at onset was 50-60 years, and a slight male predominance was observed. The enrolled patients predominantly showed focal onset of cervical or lumbosacral symptoms. Only about one-half of the indicated patients (31.4%) received a physician's recommendation for a parenteral gastrostomy, and 18.1% underwent the procedure. Noninvasive ventilation was recommended in 23% of patients, but applied in only 9.5% of them. Tracheostomy was performed in 12.7% of patients. CONCLUSIONS: The demographic and clinical features of the diagnosis and management of ALS in Korea are similar to those reported in other countries; however, supportive management, as recommended in evidence-based guidelines, are not yet widely recommended or performed for patients with ALS in Korea.
Journal of Clinical Neurology 12/2012; 8(4):293-300. · 1.89 Impact Factor
[show abstract][hide abstract] ABSTRACT: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients.
We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale.
Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls.
In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
Journal of Clinical Neurology 06/2012; 8(2):139-45. · 1.69 Impact Factor
[show abstract][hide abstract] ABSTRACT: Decreased BMI has been reported that it may be associated with cognitive decline in the elderly. Weight loss is common in patients with PD. However, studies comparing cognitive changes according to BMI changes in PD have not been done yet. We performed this study to know a relationship between BMI changes and the rate of cognitive decline in PD. PD patients were recruited retrospectively. The patients (n=104) were divided into two groups according to BMI changes during initial 6 months of follow-up: decreased (n=52) vs. stable BMI groups (n=52). Cognitive functions were repeated until 36 months of follow-up using the Korean version of the Mini-Mental State Examination (K-MMSE) and the modified Mini-Mental State (3MS) test. We calculated the rate of cognitive decline (K-MMSE and 3MS score changes/month) and compared it between the two groups. The decreased BMI group showed lower level of cognitive function than that of stable BMI group, especially at the 36th month of follow-up (p<0.05). In addition, the rate of cognitive decline was also significantly faster in the decreased BMI group, particularly at the 36th month of follow-up (p<0.05). This study suggests that decreased BMI during initial 6 months of follow-up in PD might be a useful indicator for future risk of dementia and let clinicians predict faster rate of cognitive decline in patients with PD.
Archives of gerontology and geriatrics 07/2011; 55(1):70-2. · 1.36 Impact Factor
[show abstract][hide abstract] ABSTRACT: Pathophysiological aspects of dementia and its rate of cognitive deterioration could be dependent on disease subtype, Alzheimer's dementia (AD), vascular dementia (VaD), and Parkinson's disease with dementia (PDD). 150 patients diagnosed at the Chungnam National University Hospital (87 women and 63 men) memory clinic. The participants consisted of 68 patients with AD, 23 patients with VaD, and 59 patients with PDD, who were diagnosed by the individual criteria, respectively. Cognitive screening was evaluated using the Korean version of the mini-mental state examination (MMSE). Repeated evaluations were conducted at 6-month, 1 year, and 2 years after initial baseline assessment. Rates of cognitive decline were calculated by dividing MMSE score differences by the number of months lapsed. No difference was found between the three dementia subtypes with respect to baseline MMSE scores. Cognitive decline was not obvious up to 6-month of the follow-up, but by 12-month of follow-ups was significant regardless of the dementia subtype. Furthermore, the rate of cognitive decline in the AD group was significantly faster than in the PDD or VaD groups. This study suggests that rate of cognitive deterioration in dementia is not linear over time and that dementia subtypes have different rates of cognitive deterioration.
Archives of gerontology and geriatrics 01/2011; 53(3):320-2. · 1.36 Impact Factor
[show abstract][hide abstract] ABSTRACT: The CDT requires a patient to draw the face of a clock, insert all the numbers and set the hands for a specified time. This task engages a number of cognitive abilities including verbal understanding, memory, spatially coded knowledge, planning, concentration and visuoconstructive skills. Although CDT has been regarded as a simple and useful screening tool in dementia, little is known about the longitudinal changes in CDT performance and error types, according to dementia subtypes and their severity. MATERIALS AND METHODS: Two hundred thirty-five consecutive patients with dementia (Alzheimer disease = AD, n=94, Parkinson's disease with dementia (PDD), n = 119, Vascular dementia = VaD, n = 22) were recruited from the memory clinic at Chungnam University hospital from January 2005 to July 2009. The Korean version of the mini-mental state examination (MMSE-K) and CDT were performed by all participants every 6 months. Scoring of the CDT performance was in accordance with the method of Mano and Wu. Error types of CDT were classified as follows: stimulus-bound response (SBR), conceptual deficit (CD), spatial and/or planning deficit (SPD) and perseveration error (PE). We divided patients into 3 groups by their initial MMSE-K score (severe, MMSE-K ≤ 17; moderate, 18 ≤ MMSE-K < 24; mild, 24 ≤ MMSE-K). Comparisons of CDT scores and error types in the three dementia subtypes and three cognitive groups were conducted. Results: Longitudinal changes on CDT and MMSE-K scores were not different between the three dementia subtypes. From the analysis of CDT error type, the most common error type was SPD in patients with mild to moderate dementia. In contrast, CD error was the most frequent in severe dementia group. The order of error frequency in all subjects from baseline to the last follow-up was as follows: SPD, CD, SBR and PE except CD was the most frequent error type in AD patients after 18 months from baseline. CONCLUSION: Longitudinal analysis of error on CDT may reflect different characteristics of cognitive deterioration according to dementia subtypes and dementia stages.
Archives of gerontology and geriatrics 10/2010; 53(2):e179-82. · 1.36 Impact Factor
[show abstract][hide abstract] ABSTRACT: We performed this study to evaluate the relationship between the stages of PD and autonomic dysfunction, and to find an association between the autonomic dysfunction and cognitive impairment in PD. Sixty-three patients who met the criteria of the United Kingdom PD Society Brain Bank were enrolled prospectively. Clinical stages were using the Hoehn and Yahr (H&Y) staging and unified PD rating scale motor scores. Cognitive functions were evaluated using the mini-mental state examination (MMSE) and the modified MMSE (3MS) test. The scale for outcome in PD-autonomic (SCOPA-AUT) was used to evaluate autonomic symptoms. Severities of autonomic dysfunction were classified using the composite autonomic scoring scale (CASS). Fifty-four of the 63 patients (86%) had shown abnormalities on CASS. H&Y stages correlated with SCOPA-AUT (p<0.05) and 3MS and MMSE scores (p<0.05). H&Y stages were positively related with autonomic dysfunction, heart rate ratios during deep breathing and the quantitative sudomotor axon reflex test (QSART) scores. Autonomic dysfunction may be present from disease onset, whereas the rate of cognitive decline increases with disease progression. We recommend that both qualitative and quantitative autonomic evaluation from the early stage of disease and regular cognitive screening with disease progression might be useful to facilitate optimal management in PD.
Archives of gerontology and geriatrics 03/2010; 52(1):84-8. · 1.36 Impact Factor
[show abstract][hide abstract] ABSTRACT: Most patients with idiopathic PD (IPD) show variable degrees of cognitive decline. The purpose of this study was to evaluate the relationship between the predominant motor symptom at the time of disease onset and the level of cognitive function in patients with IPD. A total of 159 patients with IPD were enrolled in this study. The patients' initial motor symptoms were classified into three types: tremor-dominant (TD), bradykinesia and rigidity-dominant (BRD), gait and postural instability-dominant (GPD). Disease severity was rated according to the Hoehn-Yahr classification (H&Y stage). Overall cognitive status was evaluated using the Korean versions of the Mini-Mental State Examination (K-MMSE) and the Modified Mini-Mental State (3MS) tests. The GPD group showed the lowest scores of the K-MMSE/3MS, and the patients with TD showed the best performance in the cognitive analysis (p<0.05). The patients who were older at disease onset showed worse cognitive performance than those the patients who were younger at disease onset (p<0.05). There was no difference in cognitive status according to H&Y stages. The accurate classification of initial motor symptoms and the detailed history, including the exact onset age of IPD, may allow us to predict cognitive decline in IPD.
Archives of gerontology and geriatrics 02/2009; 49(3):351-4. · 1.36 Impact Factor
[show abstract][hide abstract] ABSTRACT: We have identified a compound heterozygous mutation of PYGM in a Korean patient with McArdle disease, which is composed of a novel single codon deletion (p.779delE) and a common nonsense mutation (p.R50X). Our study also showed an evidence of nonsense-mediated mRNA decay (NMD) caused by p.R50X mutation, supporting the importance of RNA processing defects in the molecular pathology of McArdle disease.
[show abstract][hide abstract] ABSTRACT: The aims of this study were to obtain data on the frequency with which Korean patients with autoimmune myasthenia gravis (MG) present solely with ocular disturbances and progress to develop generalized disease and to identify the prognostic factors associated with secondary generalization.
We conducted a retrospective multicenter survey in which a total of 376 adult patients who were newly diagnosed with MG from 2000 through 2005 were reviewed for analysis. Patients with ocular MG at the time of symptom presentation (n=202, 53.7%) were divided into two subgroups according to their prognosis: the patients whose disease remained ocular throughout the follow-ups were placed in the OMG-R group, and the patients who progressed to develop generalized disease were placed in the OMG-G group. Clinical characteristics and laboratory findings were compared between the two subgroups.
Secondary generalization developed in 47 (23.3%) of the 202 study subjects, mostly within the first 6 months after symptom presentation, while the disease remained ocular throughout the follow-up duration (median 11.8 months) in the remaining 155 patients (76.7%). AChR antibody, abnormal repetitive nerve stimulation tests (RNST) and thymoma were more frequently observed in the patients in the OMG-G group than in those in the OMG-R group (p<0.01 in all). In seropositive cases, the titers of AChR antibody were also significantly higher in the OMG-G group than in the OMG-R group (median, 3.8 nM vs. 6.4 nM; p<0.05). Cox proportional hazards regression analyses showed that early oral prednisolone treatment significantly reduced the risk of secondary generalization (HR, 0.24; 95% CI, 0.11-0.56), whereas abnormal AChR antibody (HR, 5.34; 95% CI, 1.60-17.8) and thymoma (HR, 2.32; 95% CI, 1.21-4.45) were predictive of the development of secondary generalization.
Our findings suggest that several factors, including the AChR antibody, thymoma, early corticosteroid treatment, and possibly latent neuromuscular abnormality revealed by RNST, may have an impact on the risk of developing generalized disease in Korean patients presenting with ocular myasthenia.
Journal of the Neurological Sciences 07/2008; 273(1-2):10-4. · 2.24 Impact Factor
[show abstract][hide abstract] ABSTRACT: We wanted to define the characteristics of errors on the clock drawing test (CDT) and we also wanted to determine their value for making the early diagnosis of dementia, so the performance of patients with three types of dementia on the four CDT was evaluated. The patients with subcortical vascular dementia (VaD) and patients with Parkinson's disease with dementia (PDD) had more stimulus bound responses. Patients with Alzheimer disease (AD) made significantly more conceptual deficit (CD) errors. The CD correlated with the severity of dementia and it could be detected in the early and mild stage of dementia. Qualitative and quantitative analyses of the errors on the CDT might be useful for making the early differential diagnosis of dementia types.
Archives of gerontology and geriatrics 12/2007; 48(1):58-60. · 1.36 Impact Factor