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1.
Yonsei Med J ; 61(7): 644-646, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32608210

ABSTRACT

A weight-holding tremor is a rare type of hand tremor that occurs only when someone holds some weight. Here we report three cases of isolated weight-holding tremors, of which one patient was diagnosed with Parkinson's disease (PD) and the others as a variant of essential tremor (ET). A 68-year-old woman presented with a left-hand tremor that appeared only when she held objects with some weight. Her tremor was reminiscent of the re-emergent tremor of PD, and dopamine transporter imaging revealed reduced uptake at the right posterior putamen. A 21-year-old man and a 71-year-old woman also presented with similar weight-holding tremors. However, these tremors were not re-emergent, and no signs of parkinsonism were observed during follow-up. Although the underlying etiologies of these tremors differed, all three tremors worsened as the held weight increased. These tremors could be isolated isometric tremors, but further research is needed to clarify the nature of this rare tremor.


Subject(s)
Essential Tremor/diagnosis , Parkinson Disease/complications , Positron-Emission Tomography/methods , Tremor/diagnostic imaging , Tremor/etiology , Adult , Aged , Body Weight , Dopamine/metabolism , Dopamine Plasma Membrane Transport Proteins/metabolism , Essential Tremor/physiopathology , Female , Humans , Male , Tremor/classification , Tremor/physiopathology
2.
J Neural Transm (Vienna) ; 123(6): 589-94, 2016 06.
Article in English | MEDLINE | ID: mdl-27098668

ABSTRACT

Operations often lead to delirium in elderly patients, particularly those with impaired cognition, suggesting that underlying neuropathology may play a role in the development of postoperative delirium. Olfactory dysfunction is a well-known marker of underlying Lewy body pathology in Parkinson's disease (PD). However, the prognostic value of olfaction for the development of postoperative delirium in PD remains unclear. 34 PD patients with or without postoperative delirium following surgery under general anesthesia were included in this study (n = 17 for each group). Cross-Cultural Smell Identification scores were lower in PD patients with postoperative delirium (4.4 ± 1.5) relative to the delirium-free controls (6.8 ± 2.4, p < 0.005). Multivariate logistic regression analysis revealed that olfaction and operation time were significant predictors of the development of postoperative delirium. Impaired olfaction is significantly associated with postoperative delirium in PD. Olfaction may be useful for identifying PD patients susceptible to postoperative delirium.


Subject(s)
Delirium/physiopathology , Elective Surgical Procedures/adverse effects , Olfaction Disorders/physiopathology , Parkinson Disease/complications , Postoperative Complications/physiopathology , Registries , Aged , Aged, 80 and over , Anesthesia, General , Delirium/etiology , Female , Follow-Up Studies , Humans , Male , Middle Aged , Olfaction Disorders/etiology
3.
J Neural Transm (Vienna) ; 122(12): 1685-91, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26343034

ABSTRACT

Increasing evidence has shown that individuals with Parkinson's disease (PD) have lower levels of 25-hydroxyvitamin D (25[OH]D) than healthy controls. Low vitamin D has been associated with endothelial dysfunction which may play a role in the pathogenesis and progression of PD. Flow-mediated dilation (FMD) is widely used as a clinical marker of overall endothelial function. We evaluated the relationship between serum 25(OH)D levels and FMD in PD. We enrolled 81 patients with early PD and 52 healthy controls, and we evaluate endothelial function based on vitamin D status and identify the association between FMD and vitamin D status in patients with early PD. The mean serum 25(OH)D levels were significantly lower in the PD patients than in the controls (21.8 ± 9.5 vs. 25.2 ± 9.3 ng/mL, p < 0.05). FMD was significantly lower in the PD patients (7.1 ± 1.8 %) than in the controls (8.1 ± 2.1 %, p < 0.05). The serum 25(OH)D was significantly associated with FMD independently of age, cardiovascular disease risk factors, body mass index, motor Unified PD Rating Scale status and homocysteine levels (adjusted R (2) = 0.331, ß = 0.494, p < 0.001). These findings provide evidence of a possible association between endothelial dysfunction as assessed by FMD and low vitamin D status in patients with early PD.


Subject(s)
Endothelial Cells/physiology , Parkinson Disease/physiopathology , Vascular Diseases/physiopathology , Vitamin D Deficiency/physiopathology , Aged , Disease Progression , Female , Humans , Male , Parkinson Disease/complications , Severity of Illness Index , Vascular Diseases/complications , Vitamin D/blood , Vitamin D Deficiency/complications
5.
J Neurol Sci ; 355(1-2): 174-9, 2015 Aug 15.
Article in English | MEDLINE | ID: mdl-26076880

ABSTRACT

BACKGROUND: Mild cognitive impairment (MCI) is a well-known precursor of Alzheimer's disease (AD) but often also precedes dementia with Lewy bodies (DLB). The early differentiation of DLB from AD is important to delay disease progression. Olfactory dysfunction is a well-known early sign of both AD and Lewy body disorders, including Parkinson's disease (PD) and DLB. Thus, the aim of the present study was to determine whether olfactory and neuropsychological tests can aid in the differentiation of DLB from AD at the MCI stage. METHODS: The present study included 122 MCI patients who were monitored until they developed dementia or until their condition stabilized; the follow-up period averaged 4.9 years (range: 3.9-6.2 years). Baseline olfactory function as measured with the Cross-Cultural Smell Identification (CCSI) test and neuropsychological data were compared. RESULTS: During the follow-up period, 32 subjects developed probable AD (MCI-AD), 18 had probable DLB (MCI-DLB), 45 did not convert to dementia (MCI-stable), and eight developed a non-AD/DLB dementia. The mean CCSI score (95% confidence interval [CI]) in patients with MCI-DLB (4.6; 95% CI: 4.0-5.3) was significantly lower than that of MCI-AD patients (6.4; 95% CI: 6.0-6.7, p<0.001) and MCI-stable patients (7.3; 95% CI: 6.9-7.8, p<0.001). The area under the curve of the receiver operating characteristic to discriminate MCI-DLB from MCI-AD using CCSI scores was (0.84; 95% CI: 0.72-0.97). Frontal-executive function and visuospatial ability was worse in patients with MCI-DLB, while verbal recognition memory impairment was greater in those with MCI-AD. CONCLUSION: Olfactory and neuropsychological tests can help predict conversion to DLB or AD in patients with MCI.


Subject(s)
Alzheimer Disease/complications , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/etiology , Lewy Body Disease/complications , Olfaction Disorders/diagnosis , Olfaction Disorders/etiology , Aged , Aged, 80 and over , Analysis of Variance , Diagnosis, Differential , Disease Progression , Female , Humans , Longitudinal Studies , Male , Middle Aged , Neuropsychological Tests , Psychiatric Status Rating Scales , ROC Curve
6.
Mov Disord ; 29(12): 1551-5, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25154960

ABSTRACT

BACKGROUND: Levodopa (l-dopa) therapy in Parkinson's disease (PD) increases serum homocysteine levels because of its metabolism via catechol O-methyltransferase, which may lead to endothelial dysfunction. METHOD: We enrolled 40 PD patients treated with l-dopa, 33 PD patients treated with l-dopa/entacapone, 22 untreated PD and 30 controls, and compared the flow-mediated dilation in these subjects. RESULTS: The flow-mediated dilation was significantly lower in PD patients with l-dopa (6.0 ± 1.8%) than in those with l-dopa/entacapone (7.2 ± 1.1%, P = 0.03), untreated PD patients (7.8 ± 1.2%, P < 0.05), and controls (8.5 ± 2.9%, P < 0.05). The homocysteine level was significantly higher in PD patients with l-dopa than in other groups. In a multivariate logistic regression model, the uppermost homocysteine quartile was an independent predictor of the lowest tertile of flow-mediated dilation (odds ratio, 6.33; 95% confidence interval, 1.61-26.65; P = 0.012). CONCLUSIONS: Our findings indicate that endothelial dysfunction may be associated with chronic l-dopa treatment in patients with PD.


Subject(s)
Endothelium/pathology , Hyperhomocysteinemia/etiology , Parkinson Disease/complications , Parkinson Disease/pathology , Aged , Antiparkinson Agents/therapeutic use , Brachial Artery/drug effects , Brachial Artery/physiopathology , Catechols/therapeutic use , Dilatation , Endothelium/drug effects , Female , Homocysteine/blood , Humans , Hyperhomocysteinemia/diagnosis , Levodopa/therapeutic use , Logistic Models , Male , Middle Aged , Nitriles/therapeutic use , Parkinson Disease/blood , Statistics, Nonparametric
7.
Alzheimer Dis Assoc Disord ; 28(2): 151-5, 2014.
Article in English | MEDLINE | ID: mdl-24126215

ABSTRACT

BACKGROUND: Recent studies have demonstrated that structural and pathologic changes are more severe in patients with dementia with Lewy bodies (DLB) than in those with Parkinson disease with dementia (PDD). We investigated neuropsychological characteristics of patients with mild cognitive impairment (MCI) stage of DLB (DLB-MCI) and PD (PD-MCI) based on the hypothesis that the pathologic differences between DLB and PDD can influence cognitive profiles in the MCI stage of these diseases. METHODS: Baseline demographic characteristics and neuropsychological data obtained from patients with DLB-MCI (n=20) and PD-MCI (n=46) were compared. RESULTS: The patients with DLB-MCI showed poorer cognitive performance in the Stroop, Go-No-Go, and semantic fluency tests compared with those with PD-MCI. In addition, patients with DLB-MCI had lower scores on visual and verbal memory performance and in the visuospatial domain compared with PD-MCI patients. CONCLUSIONS: Our results demonstrate that patients with DLB-MCI have more severe cognitive impairment in frontal executive, memory, and visuospatial functions than those with PD-MCI. These data suggest that differences in pathologic substrates between PDD and DLB may begin in the MCI stage of the 2 diseases and may lead to differences in cognitive profiles.


Subject(s)
Cognitive Dysfunction/psychology , Executive Function , Lewy Body Disease/psychology , Memory , Parkinson Disease/psychology , Aged , Cognitive Dysfunction/pathology , Cognitive Dysfunction/physiopathology , Female , Humans , Lewy Body Disease/pathology , Lewy Body Disease/physiopathology , Male , Middle Aged , Neuropsychological Tests , Parkinson Disease/pathology , Parkinson Disease/physiopathology
8.
Eur Neurol ; 69(1): 33-40, 2013.
Article in English | MEDLINE | ID: mdl-23128968

ABSTRACT

BACKGROUND: This study is intended to evaluate the propensities of cilostazol to reduce the pulsatility index (PI) in patients with acute lacunar infarction using the serial transcranial Doppler (TCD) examinations. METHODS: In a multicenter, randomized, double-blind, placebo-controlled trial, patients were randomly assigned to receive either placebo or 100 mg cilostazol twice a day as well as aspirin 100 mg a day. The primary outcomes were the changes of middle cerebral artery (MCA) and basilar artery (BA) PIs at 14 and 90 days from the baseline TCD study. This study is registered with ClinicalTrials.gov (NCT00741286). RESULTS: Trial medication was given to 203 patients, with 100 receiving cilostazol and 103 receiving placebo, and 164 were included in the per-protocol analysis of the primary outcome. Results from the linear mixed model showed that significant effects were obtained for time-by-group interactions (p = 0.008 in right MCA, p = 0.015 in left MCA, p = 0.002 in BA), suggesting that changes of PIs from the baseline to the 90-day study were different across the groups. CONCLUSIONS: Cilostazol further decreased TCD PIs at 90 days from baseline compared to placebo in acute lacunar infarction. This result may be related to pleiotropic effects, such as vasodilation, beyond its antiplatelet activity.


Subject(s)
Aspirin/therapeutic use , Phosphodiesterase Inhibitors/therapeutic use , Platelet Aggregation Inhibitors/therapeutic use , Stroke, Lacunar/drug therapy , Tetrazoles/therapeutic use , Aged , Cilostazol , Double-Blind Method , Drug Therapy, Combination , Female , Humans , Male , Middle Aged , Pulse Wave Analysis , Stroke, Lacunar/diagnostic imaging , Treatment Outcome , Ultrasonography, Doppler, Transcranial
9.
Cephalalgia ; 32(6): 497-9, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22523188

ABSTRACT

BACKGROUND: Although the mechanism of migraine is regarded as a functional disorder of the brain, numerous studies have reported that migraine is closely associated with vascular system abnormalities. CASE REPORTS: We describe a 19-year-old female with recurrent migraine attacks and typical aura for 7 years. MRI showed multiple stroke lesions in the posterior circulation. Moreover, a pseudoaneurysm (1.9 × 1.4 cm) originating from the left vertebral artery was observed on four-vessel angiography. Multiple microembolic signals (MES) were repeatedly observed in the basilar artery using 30-minute transcranial Doppler monitoring. Interestingly, MES and her typical migrainous symptoms disappeared simultaneously with removal of the pseudoaneurysm. DISCUSSION: This case supports the fact that microemboli play a pivotal role in the development of migraine attacks.


Subject(s)
Aneurysm, False/complications , Intracranial Embolism/complications , Migraine with Aura/etiology , Stroke/complications , Vertebral Artery/pathology , Aneurysm, False/diagnosis , Aneurysm, False/therapy , Cerebral Angiography , Embolization, Therapeutic , Female , Humans , Intracranial Embolism/pathology , Intracranial Embolism/surgery , Stroke/diagnosis , Stroke/therapy , Vertebral Artery/surgery , Young Adult
10.
Eur Neurol ; 65(6): 340-5, 2011.
Article in English | MEDLINE | ID: mdl-21597296

ABSTRACT

BACKGROUND/AIMS: The Willisian circle can redistribute the vertebrobasilar flow and the reduction of flow is attributable to orthrostatic presyncope. To evaluate this hemodynamic aspect, we investigated anterior and posterior cerebral blood flow (CBF) volume distributions according to the variation of the Willisian circle, and compared those between controls and patients with presyncope. METHODS: Subjects underwent cerebral CT angiography and color-coded duplex sonography measuring flow volumes of the internal carotid artery (ICAs) and vertebral artery (VAs). According to clinical manifestations and Willisian configurations, CBF volume patterns were analyzed. RESULTS: Between the presyncope (n = 25) and control groups (n = 76), the prevalence of fetal-variant Willisian configuration (48% vs. 21%, p = 0.004) and posterior CBF volume (126 ± 85 vs. 165 ± 64 ml/min, p = 0.015) was significantly different, but A1 morphology, anterior CBF, and total CBF volumes were not. Total CBF volume was 769 ± 176 ml/min (80% ICAs and 20% VAs). The posterior CBF volume lowered significantly (172 ± 70 vs. 122 ± 62 vs. 92 ± 44 ml/min; p < 0.001) toward the two-sided fetal type variation, although total CBF volume is similar among the three groups (p = 0.742). CONCLUSIONS: The present study suggests that Willisian configuration contributes to orthostatic presyncope and flow distribution of the cerebral circulation.


Subject(s)
Cerebrovascular Circulation/physiology , Circle of Willis/diagnostic imaging , Hemodynamics , Ultrasonography, Doppler, Transcranial , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Retrospective Studies
13.
Mov Disord ; 25(12): 1953-9, 2010 Sep 15.
Article in English | MEDLINE | ID: mdl-20623770

ABSTRACT

A few case-control studies of multiple system atrophy (MSA) have been reported in Western populations. In this study, we included various epidemiological factors to evaluate whether the risk factors for MSA differed in Korean and Western populations. A total of 100 consecutive MSA patients and 104 controls at two referral hospitals participated. Information was obtained through face-to-face interviews using a structured questionnaire: history of living area, occupational history, food habits, alcohol and tobacco consumption, and use of drugs. Odds ratios and 95% confident intervals (OR [95% CI]) were computed using logistic regression. The multivariate logistic regression analysis revealed that use of antihypertensive medication (OR = 0.30 [0.12-0.78]) and vitamins (OR = 0.30 [0.14-0.64]) and consumption of meat and poultry (OR = 0.27 [0.13-0.56]) were associated with decreasing risk for MSA, whereas use of herbal medications (OR = 3.17 [1.28-7.84]) was associated with increasing risk for MSA. In univariate analysis adjusted for age, sex, education level, and recruitment center, use of aspirin (OR = 0.21 [0.07-0.61]) and coffee consumption (OR = 0.44 [0.23-0.84]) were significantly less frequent in MSA patients than in controls, whereas heavy smoking (≥40 pack-years) was significantly more prevalent in MSA patients than in controls (OR = 3.44 [1.05-11.23]). There was no difference in living area, participation in farming, or exposure to agrichemicals and solvents between groups. This study showed that MSA in Korea is characterized by risk factors that are both similar to and different from those affecting Western populations and that herbal medicines constitute a new MSA risk factor for the Korean population.


Subject(s)
Multiple System Atrophy/epidemiology , Age Factors , Asian People , Case-Control Studies , Diet , Humans , Multiple System Atrophy/diagnosis , Odds Ratio , Prevalence , Regression Analysis , Republic of Korea/epidemiology , Risk Factors , Sex Factors , Smoking , Surveys and Questionnaires
15.
Parkinsonism Relat Disord ; 16(3): 225-7, 2010 Mar.
Article in English | MEDLINE | ID: mdl-19815447

ABSTRACT

Levodopa treatment in patients with Parkinson's disease (PD) is known to cause elevation in serum homocysteine levels. We investigated whether this increase in homocysteine level influences cerebral vascular flow velocity and resistance using transcranial Doppler (TCD). This study included 17 patients with de novo PD. Homocysteine levels and TCD parameters at middle cerebral artery were investigated before and after 3 months of levodopa treatment. Correlation analyses were done between changes in homocysteine levels and TCD parameters. After 3 months of levodopa treatment, homocysteine level increased significantly from 13.3mg/dL to 17.0 mg/dL (p < 0.001), but there were no meaningful changes in mean velocity (MV) and pulsatility index (PI). Correlation analysis revealed that the changes in homocysteine level had negative correlation with MV (r = -0.53, p = 0.027) and positive correlation with PI (r = 0.55, p = 0.028). Our study infer that although short-term treatment of levodopa itself does not cause overall alteration of cerebral blood flow velocities and resistances, patients who has greater degree of increased homocysteine level may still be at a risk of developing cerebral vascular stiffness.


Subject(s)
Antiparkinson Agents/therapeutic use , Cerebrovascular Circulation/drug effects , Hemodynamics/drug effects , Levodopa/therapeutic use , Parkinsonian Disorders/drug therapy , Parkinsonian Disorders/physiopathology , Aged , Antiparkinson Agents/pharmacology , Female , Humans , Levodopa/pharmacology , Male , Middle Aged , Parkinsonian Disorders/diagnostic imaging , Prospective Studies , Retrospective Studies , Statistics, Nonparametric , Ultrasonography, Doppler, Transcranial/methods
16.
J Neurol ; 256(10): 1663-70, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19468782

ABSTRACT

Recent studies have reported that the majority of patients with multiple system atrophy (MSA) had hypertensive heart disease. However, the effect of autonomic failure on the brain in MSA has not been studied. We consecutively enrolled 63 patients with MSA and selected 63 age- and sex-matched healthy subjects. We performed a comparative analysis of cerebrovascular lesions between the patients with MSA and the control subjects and analyzed predisposing factors for cerebrovascular lesions in the patients with MSA. There was no significant difference in lacune and territorial infarcts between the patients with MSA and the control subjects. The median grading score of white matter hyperintensity (WMH) was significantly higher in the patients with MSA (1.0, interquartile range 0.5-2.0) than the control subjects (0.0, interquartile range 0.0-1.0; P < 0.01). In the patients with MSA, there was strong correlation between the grading score of WMH and supine systolic blood pressure (r = 0.529, P < 0.001) after adjusting for age. Multiple linear regression analysis showed that age and supine systolic blood pressure was significantly and independently correlated with the grading score of WMH. The present study demonstrates that patients with MSA had more severe WMH and that supine systolic pressure is a major contributing factor for the severity of WMH, suggesting that patients with MSA have target-organ damage of the brain.


Subject(s)
Brain/pathology , Cerebrovascular Disorders/pathology , Multiple System Atrophy/pathology , Nerve Fibers, Myelinated/pathology , Adult , Aged , Blood Pressure , Female , Humans , Linear Models , Magnetic Resonance Imaging , Male , Middle Aged , Risk Factors , Severity of Illness Index , Supine Position , Systole
17.
Mov Disord ; 24(5): 752-8, 2009 Apr 15.
Article in English | MEDLINE | ID: mdl-19185013

ABSTRACT

Cholesterol in brain membranes may modulate the conformational state and accumulation of alpha-synuclein in alpha-synucleinopathies.We examined the association between serum cholesterol and the risk of multiple system atrophy (MSA), one of the alpha-synucleinopathies. We enrolled 142 patients with probable MSA from two tertiary referral hospitals and 155 age- and gender-matched healthy people with no neurological disease. The levels of total cholesterol, low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) were significantly lower in MSA patients than in controls (total cholesterol: 172.7 vs. 196.3 mg/dL, P < 0.001; LDL-C: 104.0 vs. 115.3 mg/dL, P = 0.001; HDL-C: 47.3 vs. 54.2 mg/dL, P < 0.001). After adjusting for age, gender, use of cholesterol-lowering drugs, and histories of hypertension, diabetes mellitus, and smoking, the odds ratios was 5.9 (95% CI = 2.3-11.5, P < 0.001) for MSA patients in the lowest quartile of total cholesterol and 2.6 (95% CI = 1.2-5.5, P = 0.016) for those in the lowest quartile of HDL-C, compared with the highest quartiles. Levels of serum cholesterol did not significantly correlate with disease duration or severity. Our data suggest that lower levels of total cholesterol and HDL may be associated with an increased risk of MSA.


Subject(s)
Cholesterol/blood , Multiple System Atrophy/blood , Aged , Case-Control Studies , Cholesterol, HDL , Cholesterol, LDL , Female , Humans , Male , Middle Aged , Multiple System Atrophy/etiology , Odds Ratio , Retrospective Studies , Risk Factors , Severity of Illness Index , Statistics as Topic
19.
J Nucl Med ; 49(12): 2006-11, 2008 Dec.
Article in English | MEDLINE | ID: mdl-18997034

ABSTRACT

UNLABELLED: We investigated changes in cerebral glucose metabolism after cholinesterase inhibitor (ChEI) therapy in patients with Parkinson disease dementia (PDD) to determine whether cognitive improvements would be reflected in changes of cerebral metabolic patterns, thus offering insight into the neural substrate of cognitive dysfunction in patients with PDD. METHODS: We performed a serial PET study before (baseline) and after ChEI therapy on 10 patients with PDD, using statistical parametric mapping. Additionally, covariance analysis was performed to extract regions in which increased change in regional cerebral metabolism correlated significantly with increased Mini-Mental State Examination scores. RESULTS: The statistical parametric mapping analysis indicated that significantly increased cerebral metabolism after ChEI therapy, compared with at baseline, was most evident in the left angular gyrus extending to the supramarginal area and left superior and middle frontal gyri. Additionally, cerebral metabolism was significantly increased in the right superior frontal and left middle orbitofrontal gyri. In contrast, the right fusiform gyrus showed significantly decreased metabolism after ChEI, compared with at baseline. In the correlation analysis, improvements in Mini-Mental State Examination scores after ChEI treatment were significantly associated with increased cerebral metabolism in the left supramarginal, orbitofrontal, and cingulate areas. CONCLUSION: Our data suggest that prefrontal and parietal association areas may be relevant structures for the pharmacologic response to ChEI in patients with PDD.


Subject(s)
Brain/metabolism , Cholinesterase Inhibitors/administration & dosage , Dementia/drug therapy , Dementia/metabolism , Fluorodeoxyglucose F18/pharmacokinetics , Parkinson Disease/drug therapy , Parkinson Disease/metabolism , Aged , Aged, 80 and over , Antiparkinson Agents/administration & dosage , Brain/drug effects , Dementia/complications , Dementia/diagnostic imaging , Female , Humans , Male , Parkinson Disease/complications , Parkinson Disease/diagnostic imaging , Radionuclide Imaging , Radiopharmaceuticals/pharmacokinetics , Tissue Distribution/drug effects , Treatment Outcome
20.
Neurogenetics ; 9(4): 263-9, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18704525

ABSTRACT

Mutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. The objective of this study is to determine the frequency of mutations in these PARK genes in a Korean early-onset Parkinson disease (EOPD) cohort. The authors sequenced 35 exons in SNCA, PARKIN, DJ-1, PINK1, and LRRK2 in 72 unrelated EOPD (age-at-onset

Subject(s)
Mutation , Parkinson Disease/genetics , Adolescent , Adult , Age of Onset , Base Sequence , Case-Control Studies , Cohort Studies , DNA Mutational Analysis , DNA Primers/genetics , Female , Gene Dosage , Heterozygote , Homozygote , Humans , Intracellular Signaling Peptides and Proteins/genetics , Korea , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 , Male , Middle Aged , Oncogene Proteins/genetics , Polymerase Chain Reaction , Protein Deglycase DJ-1 , Protein Kinases/genetics , Protein Serine-Threonine Kinases/genetics , Ubiquitin-Protein Ligases/genetics , Young Adult , alpha-Synuclein/genetics
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