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1.  Genetics of Parkinson’s Disease - A Clinical Perspective 
Journal of Movement Disorders  2012;5(2):33-41.
Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson’s disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.
doi:10.14802/jmd.12009
PMCID: PMC4027661  PMID: 24868412
Parkinson’s disease; Genetics
2.  Elevated Levels of α-Synuclein Oligomer in the Cerebrospinal Fluid of Drug-Naïve Patients with Parkinson's Disease 
Background and Purpose
The detection of α-synuclein in the body fluids of patients with synucleinopathy has yielded promising but inconclusive results, in part because of conformational changes of α-synuclein in response to environmental conditions. The aim of this study was to determine the feasibility of using α-synuclein as a biological marker for Parkinson's disease (PD).
Methods
Twenty-three drug-naïve patients with PD (age 62.4±12.7 years, mean±SD; 11 males) and 29 age- and sex-matched neurologic control subjects (age 60.1±16.2 years; 16 males) were recruited. The levels of oligomeric and total α-synuclein in the cerebrospinal fluid (CSF) and plasma were measured using two simultaneous enzyme-linked immunosorbent assays.
Results
The level of α-synuclein oligomer in the CSF of PD patients was significantly higher in PD patients than in neurological controls, but other findings (plasma α-synuclein oligomer and total α-synuclein in CSF and plasma) did not differ significantly between the two groups. When the control subjects were divided into a symptomatic control group (11 patients who complained of parkinsonian symptoms and were diagnosed with hydrocephalus and drug-induced or vascular parkinsonism) and a neurologic control group (10 normal subjects and 8 patients with diabetic ophthalmoplegia), the level of α-synuclein oligomer in the CSF was still significantly higher in PD patients than in both of the control subgroups.
Conclusions
These findings provide further evidence for a pathogenic role of the α-synuclein oligomer and suggest that CSF levels of α-synuclein oligomer can be a reliable marker for PD.
doi:10.3988/jcn.2011.7.4.215
PMCID: PMC3259496  PMID: 22259618
Parkinson's disease; cerebrospinal fluid; alpha-synuclein; enzyme-linked immunosorbent assay
3.  Orthostatic Hypotension in Drug-Naïve Patients with Parkinson’s Disease 
Journal of Movement Disorders  2011;4(1):33-37.
Background and Purpose
Orthostatic hypotension (OH) is known to be present even in patients with early Parkinson’s disease (PD). To affirm the presence of OH and find correlation between OH and other dysautonomic symptoms in PD, this study has done in newly-diagnosed PD patients.
Methods
Forty-five non-demented patients with no prior history of treatment for PD were recruited (17 men, 63.8 ± 10.1 years of age). All the patients were evaluated for OH before starting medications. Autonomic symptoms were evaluated with structured questionnaires. Clinical characteristics of PD were evaluated (median Hoehn and Yahr stage 2.0 (1–3), 1.3 ± 1.1 years of disease duration), and comorbid medical conditions that could affect blood pressure were also recorded.
Results
OH was prevalent, and eighteen patients (40%) showed orthostatic hypotension, and twenty-seven (60%) did not (normotensive group). There was no significant difference in demographic and clinical characteristics between groups. The presence or severity of symptoms of autonomic dysfunction in the OH group also not differed from those of the normotensive group.
Conclusions
OH was prevalent even in the early stage of PD, and was not related to presence or severity of any other symptoms of autonomic dysfunction. Our findings suggest that clinicians should pay attention to OH from the early stage of disease.
doi:10.14802/jmd.11005
PMCID: PMC4027710  PMID: 24868389
Parkinson’s disease; Orthostatic hypotension; Autonomic dysfunction
4.  Autonomic Dysfunctions in Parkinsonian Disorders 
Journal of Movement Disorders  2009;2(2):72-77.
Background and Purpose:
Symptoms of autonomic dysfunctions are common in the patients with parkinsonian disorders. Because clinical features of autonomic dysfunctions are diverse, the comprehensive evaluation is essential for the appropriate management. For the appreciation of autonomic dysfunctions and the identification of differences, patients with degenerative parkinsonisms are evaluated using structured questionnaire for autonomic dysfunction (ADQ).
Methods:
Total 259 patients, including 192 patients with [idiopathic Parkinson’s disease (IPD, age 64.6 ± 9.6 years)], 37 with [multiple system atrophy (MSA, 62.8 ± 9.1)], 9 with [dementia with Lewy body (DLB, 73.9 ± 4.3)], and 21 with [progressive supranuclear palsy (PSP, 69.4 ± 9.6)]. The ADQ was structured for evaluation of the presence of symptoms and its severity due to autonomic dysfunction, covering gastrointestinal, urinary, sexual, cardiovascular and thermoregulatory domains. Patients were also evaluated for the orthostatic hypotension.
Results:
Although dementia with Lewy body (DLB) patients were oldest and duration of disease was longest in IPD, total ADQ scores of MSA and PSP (23.9 ± 12.6 and 21.1 ± 7.8) were significantly increased than that of IPD (15.1 ± 10.6). Urinary and cardiovascular symptom scores of MSA and gastrointestinal symptom score of PSP were significantly worse than those of IPD. The ratio of patient with orthostatic hypotension in IPD was 31.2% and not differed between groups (35.1% in MSA, 33.3% in DLB and 33.3% in PSP). But the systolic blood pressure dropped drastically after standing in patients with MSA and DLB than in patients with IPD and PSP.
Conclusions:
Patients with degenerative parkinsonism showed widespread symptoms of autonomic dysfunctions. The severity of those symptoms in patients with PSP were comparing to that of MSA patients and worse than that of IPD.
doi:10.14802/jmd.09019
PMCID: PMC4027718  PMID: 24868361
Parkinsonism; Autonomic dysfunction; Orthostatic hypotension
5.  Development of the Korean Version of the Sleep Apnea Quality of Life Index 
Objectives
Obstructive sleep apnea (OSA) is a disorder characterized by repetitive partial or complete occlusion of the upper airway during sleep that affects quality of life. The aim of this study was to develop the Korean version of the sleep apnea quality of life index (K-SAQLI) and apply it in Korean patients with OSA.
Methods
Ninety-three patients with OSA completed the K-SAQLI. Its construct validity and responsiveness were tested by comparing the baseline and change scores obtained in each domain (i.e., daily functioning, social interactions, emotional functioning, and symptoms) using the medical outcome survey-short form 36 (SF-36).
Results
The Cronbach α coefficients of internal reliability exceeded 0.60 in all the domains (daily functioning, 0.89; social interactions, 0.88; emotional functioning, 0.92; symptoms, 0.67; and total, 0.94). The K-SAQLI had a high test-retest correlation coefficient of 0.73 in the 20 randomized selected patients. The construct validity was confirmed by significant correlations with SF-36 subscale scores.
Conclusion
The results of this study demonstrate that the K-SAQLI may be applicable for clinical purposes.
doi:10.3342/ceo.2014.7.1.24
PMCID: PMC3932345  PMID: 24587877
Obstructive sleep apnea; Questionnaires; Quality of life; Medical outcome survey-short form 36; Calgary sleep apnea quality of life index
6.  The Efficacy of Exercise Programs for Parkinson's Disease: Tai Chi versus Combined Exercise 
Background and Purpose
Exercise is recommended for every patient with Parkinson's disease (PD). The effectiveness of two different forms of exercise for PD, Tai Chi and combined stretching-strengthening exercise, was compared.
Methods
Patients with mild-to-moderate PD were recruited to join either the combined stretching-strengthening exercise group (n=7), the Tai Chi group (n=9), or the control (nonintervention) group (n=7). Exercise was performed three times a week over a period of 8 weeks. The Tai Chi exercise was led by certified instructors based on a Tai-Chi-for-arthritis program. The combined stretching-strengthening exercise comprised folk dancing, stepping, and elastic-band exercises. The subjects' functional fitness, parkinsonian symptoms, quality of life (QoL), and depression were evaluated.
Results
Both exercise groups yielded better results in their overall functional fitness after the intervention. However, no improvement with exercise was found for parkinsonian symptoms, as evaluated using the Unified Parkinson's Disease Rating Scale. With respect to the domains of QoL, the combined stretching-strengthening exercise group fared better in the social domain of QoL, and the Tai Chi group fared better in the emotional domain, while QoL and depression worsened in the control group. The postintervention QoL was improved relative to the control condition only for the Tai Chi group. Although the exercise interventions did not have any effect on depression, the control group was associated with a significant deterioration.
Conclusions
Exercise improved the functional fitness and QoL of PD patients, with Tai Chi yielding better results in QoL and favorable results in functional fitness. These findings suggest that Tai Chi could be a good exercise strategy for patients with PD.
doi:10.3988/jcn.2013.9.4.237
PMCID: PMC3840134  PMID: 24285965
Parkinson's disease; exercise; Tai Chi; quality of life
7.  Dementia with Lewy Bodies versus Alzheimer's Disease and Parkinson's Disease Dementia: A Comparison of Cognitive Profiles 
Background and Purpose
It is particularly difficult to differentiate dementia with Lewy bodies (DLB) from the related dementias of Alzheimer's disease (AD) and Parkinson's disease dementia (PDD). Few studies have been designed to comparatively analyze detailed neuropsychological assessments of DLB patients and patients with AD and PDD.
Methods
Three groups of patients participated in this study: 10 with DLB, 76 with AD, and 17 with PDD, who had been diagnosed as probable DLB, AD, and PDD, respectively, according to the clinical criteria of the consortium on DLB, National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorder Association, and the clinical diagnostic criteria for PDD. All patients were evaluated by careful neurological examination with detailed neuropsychological testing.
Results
Significant differences among the three groups were found for attention, memory, and executive function, which included tasks of backward digit span, three-word recall, verbal delayed recall, and the Stroop test. Post hoc analysis revealed that the deficiencies of attention on the digit span task were greater in the DLB group than in the AD and PDD groups. The scores for episodic verbal memory tasks were significantly lower in the DLB and AD groups than in the PDD group. The performance in frontal executive function, as indicated by the Stroop test, was significantly worse in the DLB and PDD groups than in the AD group.
Conclusions
The results of the present study show that the pattern of cognitive dysfunction, in terms of attention, episodic memory, and executive functions, differ between patients with DLB and patients with AD and PDD.
doi:10.3988/jcn.2011.7.1.19
PMCID: PMC3079155  PMID: 21519522
dementia with lewy bodies; Alzheimer's disease; Parkinson's disease dementia; cognition; neuropsychology
8.  Selective Susceptibility of Human Dopaminergic Neural Stem Cells to Dopamine-Induced Apoptosis 
Experimental Neurobiology  2010;19(3):155-164.
Dysfunctions of ubiquitin-proteasome system and toxicity of dopamine have been known as the key mechanisms in the pathogenesis of Parkinson's disease (PD) and proteasome inhibitors are widely used in experimental models of PD to reproduce cell death of dopaminergic neurons. In the present study, immortalized human neural stem cells (HB1.F3, F3) and those transfected with human aromatic acid decarboxylase gene (F3.AADC), were used to investigate the mechanism of selective dopaminergic neuronal cell death mediated by dopamine or proteasome inhibitors. Flow cytometric analysis revealed that F3.AADC was more susceptible to dopamine than parental F3 cell which does not carry dopaminergic phenotype. The dopamine-induced apoptosis was mediated by activation of caspases 3 and 9 and cleavage of PARP. Proteasome inhibitors also induced apoptosis in dose-dependent manner but there was no difference between cell types. Prolonged exposure to subtoxic dose of proteasome inhibitors further enhanced dopamine-induced apoptosis in the F3.AADC, and increased presence of alpha-synuclein and ubiquitin-positive inclusions was noted in the cytoplasm of apoptotic cells by immunocytochemistry. These findings indicate that dopaminergic cells are selectively susceptible to dopamine toxicity and prolonged suppression of proteasome system further enhances selective sensitivity to dopamine toxicity. Chronic subtoxic proteasomal dysfunction of dopaminergic cells might contribute to selective cell death of dopaminergic neurons during the pathogenesis of Parkinson's disease.
doi:10.5607/en.2010.19.3.155
PMCID: PMC3214785  PMID: 22110355
Parkinson's disease; proteasome; dopamine; apoptosis; human neural stem cells
9.  A Case of Gerstmann-Sträussler-Scheinker Disease 
Background
Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically.
Case Report
A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102.
Conclusions
This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
doi:10.3988/jcn.2010.6.1.46
PMCID: PMC2851297  PMID: 20386644
Gerstmann-Sträussler-Scheinker disease; transmissible spongiform encephalopathy; diffusion-weighted imaging
10.  Cognitive Impairment in Parkinson's Disease without Dementia: Subtypes and Influences of Age 
Background and Purpose
Cognitive impairments are common in Parkinson's disease (PD), although the severity of these impairments does not significantly impair the patient's daily activities. The aim of this study was to determine the frequency of mild cognitive impairment (MCI) of Parkinson's disease (PDMCI) and its subtypes in nondemented PD patients. We also evaluated the influence of age on the pattern of subtypes of PDMCI.
Methods
A total of 141 consecutive, nondemented PD patients underwent a comprehensive neuropsychological assessment covering the five cognitive domains: attention, language, visuospatial, memory, and executive functions. PDMCI was defined as impaired performance in at least one of these five cognitive domains. The influence of age on the distribution of subtypes of PDMCI was assessed by comparing patients in two groups dichotomized according to their age at assessment (younger vs. older).
Results
Fifty-seven (40.4%) of the nondemented PD patients had an impairment in at least one domain, and were therefore considered as having PDMCI. The age at assessment and age at disease onset were significantly higher in the PDMCI patients. The amnestic type of PDMCI was the most frequent, followed by the visuospatial, linguistic, executive, and attention types in that order. The frequency of PDMCI was higher for all subtypes in the older group; the domain that was influenced the most by age was executive function.
Conclusions
MCI was common in PD and the subtypes were diverse. Age was found to be an important risk factor for the development of PDMCI, particularly for the executive subtype. These results indicate that the concept of MCI should be introduced in PD.
doi:10.3988/jcn.2009.5.3.133
PMCID: PMC2760718  PMID: 19826564
Parkinson's disease; mild cognitive impairment; Parkinson's disease dementia
11.  Non-Motor Off Symptoms in Parkinson's Disease 
Journal of Korean Medical Science  2009;24(2):311-314.
The aim of this study is to elucidate the clinical spectrum and frequency of non-motor symptoms during off periods (NMOS) in Parkinson's disease (PD) patients with motor fluctuation. We compared clinical characteristics between PD patients with motor symptoms only (M-off) and those with both motor and non-motor symptoms (NM-off) during off periods. The association of NMOS with parkinsonian clinical characteristics was also investigated. Sixty-seven consecutive PD patients of both M-off and NM-off groups were included in this study. We reviewed medical records, interviewed the patients, and administered a structured questionnaire. NMOS is classified into three categories: autonomic, neuropsychiatric and sensory. The frequency of NMOS and their individual manifestations were assessed. Of 67 patients with off symptoms, 20 were M-off group and 47 NM-off group. Among NMOS, diffuse pain was the most common manifestation, followed by anxiety and sweating. There were no significant differences between M-off and NM-off groups with regard to age, duration of disease and treatment, interval between onset of parkinsonian symptoms and off symptoms and off periods. Patients taking higher dosage of levodopa had fewer NMOS. NMOS is frequent in PD. Comprehensive recognition of NMOS can avoid unnecessary tests and is important for optimal treatment in PD.
doi:10.3346/jkms.2009.24.2.311
PMCID: PMC2672134  PMID: 19399276
Parkinson Disease; Non-Motor Off; Motor Fluctuation

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