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1.
Hye Ran Hwang Seong Hye Choi Dae Hyun Yoon Byung-Nam Yoon Young Ju Suh DaeHyung Lee Im-Tae Han Chang-Gi Hong 《JOURNAL OF CLINICAL NEUROLOGY》2012,8(3):190-197
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 Alzheimer''s 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. 相似文献2.
Misun Song Young-Ah Kwon Yujin Lee Hyeran Kim Ji Hea Yun Seonwoo Kim Doh Kwan Kim 《Psychiatry investigation》2012,9(4):413-417
Objective
We compared the cell responsiveness of activated lymphocytes to rapamycin, which blocks the G1/S transition, between patients with Alzheimer''s disease (AD) and normal controls to assess the early phase control defect in cell cycle.Methods
Blood samples of 26 patients with AD and 28 normal controls were collected to separate peripheral lymphocytes. We measured the proportion of each cell cycle phase in activated lymphocytes using flow cytometry and evaluated the responsiveness of these lymphocytes to rapamycin.Results
The patients with AD were older than the normal controls (AD 74.03±7.90 yr vs. control 68.28±6.21 yr, p=0.004). The proportion of G1 phase cells in the AD group was significantly lower than that in the control group (70.29±6.32% vs. 76.03±9.05%, p=0.01), and the proportion of S phase cells in the AD group was higher than that in control group (12.45±6.09% vs. 6.03±5.11%, p=0.001). Activated lymphocytes in patients with AD were not arrested in the G1 phase and they progressed to the late phase of the cell cycle despite rapamycin treatment, in contrast to those of normal subjects.Conclusion
The patients with AD probably have a control defect of early phase cell cycle in peripheral lymphocytes that may be associated with the underlying pathology of neuronal death. 相似文献3.
Seok-Ju Choi Sung-Soo Jung Young-Sun You Bae-Seob Shin Ji-Eun Kim Sung-Wook Yoon Dong-Wook Jeon Jun-Hyung Baek Sung-Woo Park Jung-Goo Lee Young-Hoon Kim 《Psychiatry investigation》2008,5(2):78-85
Objective
We estimated the prevalence of Alzheimer''s dementia (AD) and mild cognitive impairment (MCI) and their risk factors in an urban community setting, focusing especially on metabolic syndrome.Methods
A two-phase investigation based on a door-to-door survey was performed. In Phase I, we administered the Korean version of the Mini-Mental State Examination (MMSE-KC) of the Consortium to Establish a Registry for Alzheimer''s disease (CERAD-K). Assessment Packet and the Korean version of the Geriatric Depression Scales (GDS-K) to all 706 participants aged 65 years or older. In Phase II of the study, 175 persons underwent physical and neurological examinations according to the protocol of the CERAD-K clinical assessment battery [CERAD-K (C)] and the neuropsychological assessment battery [CERAD-K (N)]. We also examined the association between cognitive decline and metabolic syndrome. AD and MCI were defined using the DSM-IV-TR criteria and the Clinical Dementia Rating (CDR) scales.Results
The mean age (±SD) of the subjects was 74.3±16.7 years and the ratio of males to females was 53.2 to 46.8. The prevalence of Alzheimer''s dementia was 9.0%, while that of MCI was 32.9%. Old age and lower educational level had significant associations with cognitive decline in the elderly, but gender, years of alcohol intake or smoking, and metabolic syndrome were not associated with AD or MCI.Conclusion
In this study, metabolic syndrome was not associated with Alzheimer''s AD or MCI. Information regarding an association between Alzheimer''s dementia and metabolic syndrome in this study will be helpful in formulating future public health policy and prevention strategies in Korea. 相似文献4.
Sung Rae Kim Seong Hye Choi Choong Kun Ha Shin Goo Park Hae Wook Pyun Dae Hyun Yoon 《JOURNAL OF CLINICAL NEUROLOGY》2009,5(2):85-90
Background and purpose
Elevated plasma total homocysteine (tHcy) levels are reported to be associated with an increased risk of Alzheimer''s disease (AD). However, the mechanism by which homocysteine contributes to the pathogenesis of AD is as yet unknown. The aim of this study was to elucidate the relationship between white matter changes (WMC) and medial temporal lobe atrophy (MTA) on brain magnetic resonance imaging (MRI), and plasma levels of tHcy in AD patients.Methods
Seventy-two patients with a clinical diagnosis of probable AD were recruited to the study. Plasma tHcy levels, vascular risk factors, and WMC and MTA on brain MRI were evaluated in all patients. The AD patients were classified into two groups: those with no or minimal WMC (69.2±8.8 years, mean±SD, n=36) and those with moderate-to-severe WMC (74.6±4.6 years, n=36) on brain MRI.Results
In a univariate logistic regression analysis, the risk of moderate-to-severe WMC in AD was significantly associated with increasing age, female gender, lower education level, hypertension, high plasma tHcy levels, and lower Mini-Mental State Examination (MMSE) score. Multivariate logistic regression analysis revealed only high plasma tHcy as the independent and significant risk factor for moderate-to-severe WMC [odds ratio (OR; adjusted for age, gender, education level, MMSE score, and hypertension comparing the top tertile - tHcy levels ≥12.9 µmol/L - with the bottom tertile - tHcy levels ≤9.4 µmol/L)=7.35; 95% confidence interval, confidence interval=1.36-39.84; p=0.02], and age as a borderline significant risk factor (OR=1.08, 95% CI=0.99-1.19, p=0.09) in AD patients. Plasma tHcy levels were not correlated significantly with either right or left MTA.Conclusions
Our results suggest that the vascular pathway mediates the association between elevated plasma tHcy levels and AD. 相似文献5.
Jae-Hong Lee Yun Jeong Hong Hee-Joon Bae Beom Joon Kim Duk-Lyul Na Seol-Heui Han Jong-Moo Park Jee-Hyang Jeong Kyung-Ryeol Cha 《JOURNAL OF CLINICAL NEUROLOGY》2015,11(1):66-72
Background and Purpose
The positive effects of galantamine on cognition and activities of daily living (ADL) in Alzheimer''s disease (AD) are thought to be mediated via improvements in attention. The purpose of this study was to determine the effect of galantamine on attention in AD patients using a computerized attention test and to elucidate the relationship between improvements in attention and change in cognition and ADL.Methods
In this multicenter, open-label, prospective study, patients with mild to moderate AD received galantamine and then submitted to computerized attention tests, the Alzheimer''s Disease Assessment Scale-cognitive subscale, and instrumental ADL (IADL) at baseline, 4 weeks, and 12 weeks. The differences in reaction time on computerized tests were explored relative to the changes in cognition and IADL.Results
After 12 weeks of taking the trial medication there was a significant reduction from baseline levels in the choice reaction time (baseline, 5,216±3,650 sec; 12 weeks, 4,139±2,920 sec; p<0.01) and the simple reaction time (baseline, 1,089±782 sec; 12 weeks, 908±606 sec; p<0.01). Correlation analyses of changes in choice or simple reaction times relative to cognition and ADL measures yielded no significant associations. The improvement in attention observed at 4 weeks of galantamine treatment was not associated with any significant changes in outcome measures at the end of trial.Conclusions
This study found no significant association between the improvement in attention after treatment with galantamine and changes in cognition and ADL in patients with mild to moderate AD, despite the significant improvement in attention over the course of the treatment. 相似文献6.
Jee Wook Kim Dong Young Lee Eun Hyun Seo Bo Kyung Sohn Young Min Choe Shin Gyeom Kim Shin Young Park IL Han Choo Jong Chul Youn Jin Hyeong Jhoo Ki Woong Kim Jong Inn Woo 《Psychiatry investigation》2014,11(1):44-51
Objective
This study aimed to investigate whether the supplementation of Verbal Fluency: Animal category test (VF) performance can improve the screening ability of Mini-Mental State Examination (MMSE) for mild cognitive impairment (MCI), dementia and their major subtypes.Methods
Six hundred fifty-five cognitively normal (CN), 366 MCI [282 amnestic MCI (aMCI); 84 non-amnestic MCI (naMCI)] and 494 dementia [346 Alzheimer''s disease (AD); and 148 non-Alzheimer''s disease dementia (NAD)] individuals living in the community were included (all aged 50 years and older) in the study.Results
The VF-supplemented MMSE (MMSE+VF) score had a significantly better screening ability for MCI, dementia and overall cognitive impairment (MCI plus dementia) than the MMSE raw score alone. MMSE+VF showed a significantly better ability than MMSE for both MCI subtypes, i.e., aMCI and naMCI. In the case of dementia subtypes, MMSE+VF was better than the MMSE alone for NAD screening, but not for AD screening.Conclusion
The results support the usefulness of VF-supplementation to improve the screening performance of MMSE for MCI and NAD. 相似文献7.
Gilles Klein Lothar Burghaus Michel Vaillant Vannina Pieri Gereon R. Fink Nico Diederich 《JOURNAL OF CLINICAL NEUROLOGY》2014,10(4):314-319
Background and Purpose
Excessive daytime sleepiness and sudden sleep attacks are the main features of narcolepsy, but rapid-eye-movement sleep behavior disorder (RBD), hyposmia, and depression can also occur. The latter symptoms are nonmotor features in idiopathic Parkinson''s disease (IPD). In the present study, IPD-proven diagnostic tools were tested to determine whether they are also applicable in the assessment of narcolepsy.Methods
This was a case-control study comparing 15 patients with narcolepsy (PN) and 15 control subjects (CS) using the Scales for Outcomes in Parkinson''s Autonomic Test (SCOPA-AUT), Parkinson''s Disease Nonmotor Symptoms (PDNMS), University of Pennsylvania Smell Test, Farnsworth-Munsell 100 Hue test, Beck Depression Inventory, and the RBD screening questionnaire.Results
Both the PN and CS exhibited mild hyposmia and no deficits in visual tests. Frequent dysautonomia in all domains except sexuality was found for the PN. The total SCOPA-AUT score was higher for the PN (18.47±10.08, mean±SD) than for the CS (4.40±3.09), as was the PDNMS score (10.53±4.78 and 1.80±2.31, respectively). RBD was present in 87% of the PN and 0% of the CS. The PN were more depressed than the CS. The differences between the PN and CS for all of these variables were statistically significant (all p<0.05).Conclusions
The results of this study provide evidence for the presence of dysautonomia and confirm the comorbidities of depression and RBD in narcolepsy patients. The spectrum, which is comparable to the nonmotor complex in IPD, suggests wide-ranging, clinically detectable dysfunction beyond the narcoleptic core syndrome. 相似文献8.
Jung Jae Lee Eun Young Lee Seok Bum Lee Joon Hyuk Park Tae Hui Kim Hyun-Ghang Jeong Jae Hyoung Kim Ji Won Han Ki Woong Kim 《Psychiatry investigation》2015,12(4):516-522
Objective
Comorbid depression is common in patients with Alzheimer''s disease (AD). An increase in white matter lesions (WMLs) has been associated with depression in both elderly individuals with normal cognition and patients with Alzheimer''s disease. We investigated whether the severity and location of WMLs influence the association between WMLs and comorbid depression in AD.Methods
We enrolled 93 AD patients from Seoul National University Bundang Hospital. We administered both the Mini International Neuropsychiatric Inventory (MINI) and the Korean version of the Consortium to Establish a Registry for Alzheimer''s Disease Assessment Packet (CERAD-K) clinical and neuropsychological battery. Subjects also underwent brain magnetic resonance imaging (MRI). We diagnosed AD according to the criteria of the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer''s Disease and Related Disorders Association. We diagnosed depressive disorders according to the DSM-IV diagnostic criteria, and evaluated the severity of depressive symptoms using the Korean version of the Geriatric Depression Scale (GDS-K). We quantified the WML volumes from the brain MRI using a fully automated segmentation algorithm.Results
The log of the WML volume in the frontal lobe was significantly associated with depressive disorders (odds ratio=1.905, 95% CI=1.027-3.533, p=0.041), but not with the severity of depressive symptoms as measured by the GDS-K.Conclusion
The WML volume in the frontal lobe conferred a risk of comorbid depressive disorders in AD, which implies that comorbid depression in AD may be attributed to vascular causes. 相似文献9.
Jong Sam Baik Jeong Yeon Kim Joong Hyun Park Sang Won Han Jae Hyeon Park Myung Sik Lee 《JOURNAL OF CLINICAL NEUROLOGY》2009,5(2):91-94
Background and purpose
Scoliosis is more common in patients with Parkinson''s disease (PD) than in the general elderly population. We compared clinical characteristics between PD patients with and without scoliosis, to identify the relationship between the direction of scoliosis and the laterality of the dominant symptoms of PD. We also studied the associations between dopaminergic pharmacotherapy and scoliosis (defined by a spinal curvature deviation of 10° or larger).Methods
The study population comprised 97 patients (42 men and 55 women) with idiopathic PD. All of the patients submitted to a whole-spine scanograph to allow measurement of the degree of scoliosis by Cobb''s method.Results
True scoliosis was found in 32 of the 97 PD patients, and was observed more frequently in women than in men (28 vs. 4, respectively; p=0.006). The age of patients without scoliosis was significantly lower than that of those with scoliosis (66.5±9.2 years vs. 72.8±7.3 years, respectively, mean±SD, p<0.001). There was no correlation between PD symptom laterality and scoliosis. The rate of occurrence of scoliosis did not differ between de novo and levodopa (L-dopa)-treated patients.Conclusions
We suggest that neither L-dopa treatment nor the laterality of the initial symptoms of PD is related to the appearance of scoliosis. 相似文献10.
Nirendra Kumar Rai Vinay Goyal Nand Kumar Garima Shukla Achal Kumar Srivastava Sumit Singh Madhuri Behari 《Annals of Indian Academy of Neurology》2015,18(1):33-38
Objective:
To evaluate neuropsychiatric co-morbidities (depression, psychosis and anxiety) in non-demented patients with Parkinson''s disease (PD).Background:
Non-motor symptoms like neuropsychiatric co-morbidities are common in Parkinson''s disease and may predate motor symptoms. Currently there is scarcity of data regarding neuropsychiatry manifestations in Indian patients with PD.Methods:
In this cross-sectional study consecutive 126 non-demented patients with PD (MMSE ≥25) were enrolled. They were assessed using Unified Parkinson''s disease rating scale (UPDRS), Hoehn & Yahr (H&Y) stage, Schwab and England (S&E) scale of activity of daily life. Mini-international neuropsychiatric interview (MINI) was used for diagnosis of depression, psychosis and anxiety. Beck''s depression inventory (BDI), Brief psychiatric rating scale (BSRS) and Hamilton rating scale for anxiety (HAM-A) scales were used for assessment of severity of depression, psychosis and anxiety respectively.Results:
Mean age and duration of disease was 57.9 ± 10.9 years and 7.3 ± 3.6 years respectively. At least one of the neuropsychiatric co-morbidity was present in 64% patients. Depression, suicidal risk, psychosis and anxiety were present in 43.7%, 31%, 23.8% and 35.7% respectively. Visual hallucinations (20.6%) were most frequent, followed by tactile (13.5%), auditory (7.2%) and olfactory hallucinations (1.6%). Patients with depression had higher motor disability (UPDRS-motor score 33.1 ± 14.0 vs 27.3 ± 13.3; and UPDRS-total 50.7 ± 21.8 vs 41.0 ± 20.3, all p values <0.05). Patients with psychosis were older (63.6 ± 8.0 years vs 56.1 ± 11.1 years, p < 0.05) and had longer duration of illness (8.6 ± 3.4 years vs 6.9 ± 3.5, p < 0.05).Conclusions:
About two third patients with Parkinson''s disease have associated neuropsychiatric co-morbidities. Depression was more frequent in patients with higher disability and psychosis with longer duration of disease and older age. These co-morbidities need to be addressed during management of patients with PD. 相似文献11.
Dongwhane Lee Sung Hyuk Heo Sung-Sang Yoon Dae-Il Chang Sangeui Lee Hak-Young Rhee Bon D. Ku Key-Chung Park 《JOURNAL OF CLINICAL NEUROLOGY》2014,10(4):304-313
Background and Purpose
We examined the characteristics of sleep disturbances and sleep patterns in the caregivers of patients with amnestic mild cognitive impairment (aMCI) and dementia.Methods
We prospectively studied 132 patients (60 with aMCI and 72 with dementia) and their caregivers, and 52 noncaregiver controls. All caregivers and controls completed several sleep questionnaires, including the Pittsburgh Sleep Quality Index (PSQI). The patients were administered neuropsychological tests and the neuropsychiatric inventory to evaluate their behavioral and neuropsychiatric symptoms of dementia (BPSD).Results
The PSQI global score was 6.25±3.88 (mean±SD) for the dementia caregivers and 5.47±3.53 for the aMCI caregivers. The Insomnia Severity Index (ISI) and short form of the Geriatric Depression Scale (GDS-S) predicted higher PSQI global scores in aMCI caregivers, and higher scores for the ISI, Epworth Sleepiness Scale (ESS), and GDS-S in dementia caregivers. BPSD, including not only agitation, depression, and appetite change in dementia patients, but also depression, apathy, and disinhibition in aMCI patients, was related to impaired sleep quality of caregivers, but nighttime behavior was not. Age and gender were not risk factors for disturbed sleep quality.Conclusions
Dementia and aMCI caregivers exhibit impaired quality of sleep versus non-caregivers. ISI, GDS-S, and ESS scores are strong indicators of poor sleep in dementia caregivers. In addition, some BPSD and parts of the neuropsychological tests may be predictive factors of sleep disturbance in dementia caregivers. 相似文献12.
Hyun Jeong Han Jeong Ju Lee Sun A. Park Hyun Young Park Jeong Eun Kim Young Soo Shim Dong-Seok Shim Eun-Joo Kim Soo Jin Yoon Seong Hye Choi 《JOURNAL OF CLINICAL NEUROLOGY》2011,7(3):137-142
Background and Purpose
The goal of this study was to estimate the efficacy and safety of the rivastigmine transdermal patch in patients with probable Alzheimer''s disease (AD) who cannot tolerate or do not respond to oral cholinesterase inhibitors (ChEIs).Methods
A 24-week, prospective, open-label, single-arm, multicenter study was conducted from June 2009 to June 2010 in patients with probable AD. The enrolled patients had either a poor response or a decline in global function after treatment with oral ChEIs, or they were not able to tolerate treatment with oral ChEIs due to adverse events such as nausea or vomiting. A poor response was defined as a decrease of at least 2 points on the Korean version of the Mini-Mental State Examination (K-MMSE) within the previous 6 months (the decline in global function was determined by the investigator or caregiver). The efficacy of treatment was assessed using a follow-up Clinical Global Impression of Change (CGIC) assessment and K-MMSE conducted after 24 weeks, and safety was measured by the occurrence of adverse events and patient disposition.Results
In total, 164 patients aged 74.7±7.52 years (mean±SD) and with 5.12±3.64 years of education were included. The study was completed by 70% of the patients (n=116), with 12.2% discontinuing due to adverse events. The most frequently reported adverse events (11%) were skin lesions, such as erythema or itching, followed by gastrointestinal problems (1.2%). Either an improvement or no decline in CGIC scores was reported for 82% of the patients.Conclusions
The immediate switching of patients from an oral ChEI to the rivastigmine transdermal patch without a washout period was safe and well tolerated by the probable-AD patients in this study. 相似文献13.
Kang Min Park Kyong Jin Shin Sung Eun Kim Jinse Park Sam Yeol Ha Byoung Joon Kim 《JOURNAL OF CLINICAL NEUROLOGY》2013,9(3):186-191
Background and Purpose
Sudden cardiac death is one of the leading causes of death in patients with myotonic dystrophy type 1 (DM1). It has been proposed that a prolonged QT interval is associated with sudden cardiac death in several neurological diseases, including multiple system atrophy, idiopathic Parkinson''s disease, and diabetic autonomic neuropathy. However, analyses of the corrected QT (QTc) interval in DM1 patients are rare in the literature. The purposes of this study were to determine the association between the QT interval and DM1, and the affecting factors.Methods
Thirty-nine patients diagnosed with DM1 through genetic testing were enrolled. The QTc interval (calculated using Bazett''s formula: QTc=QT/√RR) was compared between these patients and 39 normal healthy controls. The clinical and laboratory factors affecting QTc interval in the patient group were investigated.Results
The QTc interval was significantly longer in the DM1 group (411.2±44.7 msec, mean±SD) than in the normal control group (355.6±20.6 msec). Intragroup analysis revealed that a prolonged QTc interval in DM1 patients was associated with being female and older, having a longer disease duration, and exhibiting abnormal electrocardiography findings.Conclusions
The higher incidence of sudden cardiac death in the DM1 population is associated with the observed prolonged QTc interval in those patients. 相似文献14.
Se Chang Yoon Young-Ah Kwon Hyeran Kim Seonwoo Kim Sangmee Ahn Jo Doh Kwan Kim 《Psychiatry investigation》2010,7(1):68-71
Objective
We evaluated cell viability and proliferation activity of peripheral lymphocytes as potential models of neuronal death in Alzheimer''s disease (AD).Methods
We analyzed the cell viability and proliferation activity of phytohemagglutinin (PHA)-activated lymphocytes from 68 AD patients and 33 normal controls. The cellular measures were made at baseline (0 hr), 24 hrs, 48 hrs, 72 hrs, and 96 hrs after PHA stimulation.Results
Cell viability in the AD patients was significantly decreased at 72 hrs and 96 hrs, compared with the normal controls. The declining ramp of the proliferation activity from 48 hrs to 72 hrs after PHA stimulation was significantly related to cell viability at 72 hrs and at 96 hrs in the AD patients.Conclusion
Lymphocytes from patients with AD have altered viability and proliferation characteristics in culture following PHA stimulation. These findings suggest that lymphocytes may be used as a peripheral tissue model of cell cycle dysregulation in AD. 相似文献15.
Background and Purpose
To assess the neural substrates underlying topographical disorientation (TD) in patients affected by mild cognitive impairment (MCI), forty-one patients diagnosed with MCI and 24 healthy control individuals were recruited.Methods
TD was assessed clinically in all participants. Neurological and neuropsychological evaluations and a volumetric-head magnetic resonance imaging scan were performed in each participant. Voxel-based morphometry was used to compare patterns of gray-matter atrophy between patients with and without TD, and a group of normal controls.Results
We found TD in 17 out of the 41 MCI patients (41.4%). The functional abilities were significantly impaired in MCI patients with TD compared to in MCI patients without TD. Voxel-based morphometry analyses showed that the presence of TD in MCI patients is associated with loss of gray matter in the medial temporal regions, including the hippocampus and parahippocampal cortex, the fusiform gyrus, the inferior occipital gyrus, the amygdala, and the cerebellum.Conclusions
The findings found in this study represent the first evidence that the presence of TD in patients with MCI is associated with loss of gray matter in those brain regions that have been documented to be responsible for orientation in both neuropsychological and neuroimaging studies. 相似文献16.
Teeratorn Pulkes Chutima Papsing Sukanya Wattanapokayakit Surakameth Mahasirimongkol 《JOURNAL OF CLINICAL NEUROLOGY》2014,10(1):32-36
Background and Purpose
The prevalence of Huntington''s disease (HD) among East Asians is less than one-tenth of that among Caucasians. Such a low prevalence may be attributable to a lack of carriers of specific predisposing haplogroups associated with the high instability of the Huntingtin gene (HTT). The aim of this study was to evaluate the association between specific HTT haplogroups and the occurrence of HD in a Thai population.Methods
CAG-repeat sizes and HTT haplotypes were analyzed in 18 Thai HD patients and 215 control subjects. Twenty-two tagging single-nucleotide polymorphisms (tSNPs) were genotyped.Results
Only 18 patients from 15 unrelated families were identified over the last 17 years. Pathological CAG-repeat alleles ranged from 39 to 48 repeats (43.5±3.0, mean±SD), and normal alleles ranged from 9 to 24 repeats (16.49±1.74). Only two of the chromosomes studied comprised intermediate alleles. Unlike the Caucasian data, all but 1 of the 22 tSNPs were not associated with the occurrence of HD. The predisposing haplogroups for Caucasian HD (haplogroups A1 and A2) are very rare in Thai patients (<4%). Both HD and normal chromosomes are commonly haplogroups A5 and C, in contrast to the case for Chinese and Japanese patients, in whom only haplogroup C was common in HD chromosomes. The frequency of CAG-repeat sizes of haplogroup A5 and C were also similarly distributed.Conclusions
HD chromosomes of Thai patients may arise randomly from each haplogroup, with a similar mutation rate. This rate is much lower than the CAG expansions from Caucasian HD haplogroups. These data suggest that the different mechanisms underlie CAG expansion in Thai and Caucasian patients. 相似文献17.
D.M. Wallace S. Shafazand D.Z. Carvalho F.B. Nahab C. Sengun A. Russell H.P. Moore C. Singer 《JOURNAL OF CLINICAL NEUROLOGY》2012,8(1):51-57
Background and Purpose
Sleep-related falling out of bed (SFOB), with its potential for significant injury, has not been a strong focus of investigation in Parkinson''s disease (PD) to date. We describe the demographic and clinical characteristics of PD patients with and without SFOB.Methods
We performed a retrospective analysis of 50 consecutive PD patients, who completed an REM sleep behavior disorder screening questionnaire (RBDSQ), questionnaires to assess for RBD clinical mimickers and questions about SFOB and resulting injuries. Determination of high risk for RBD was based on an RBDSQ score of 5 or greater.Results
Thirteen patients reported history of SFOB (26%). Visual hallucinations, sleep-related injury, quetiapine and amantadine use were more common in those patients reporting SFOB. Twenty-two patients (44%) fulfilled criteria for high risk for RBD, 12 of which (55%) reported SFOB. Five patients reported injuries related to SFOB. SFOB patients had higher RBDSQ scores than non-SFOB patients (8.2±3.0 vs. 3.3±2.0, p<0.01). For every one unit increase in RBDSQ score, the likelihood of SFOB increased two-fold (OR 2.4, 95% CI 1.3-4.2, p<0.003).Conclusions
SFOB may be a clinical marker of RBD in PD and should prompt confirmatory polysomnography and pharmacologic treatment to avoid imminent injury. Larger prospective studies are needed to identify risk factors for initial and recurrent SFOB in PD. 相似文献18.
Jin Hyeong Jhoo Yeon Kyung Chi Hyo Jung Choi Ji Won Han Tae Hui Kim Jung Jae Lee Seok Bum Lee Joon Hyuk Park Jong Chul Youn Jeong Lan Kim Seung-Ho Ryu Dong Young Lee Ki Woong Kim 《Psychiatry investigation》2014,11(4):446-453
Objective
We investigated demographic influences on Korean version of Disability Assessment for Dementia (DAD-K) performance and developed normative data for DAD-K.Methods
The DAD-K was administered to 2362 normal controls (NCs), 296 patients with mild cognitive impairment (MCI) and 293 patients with Alzheimer''s disease (AD). MANOVA and ROC curve analysis were used to compare DAD-K performance and the diagnostic accuracy of DAD-K, respectively. The demographic influence on DAD-K scores was analyzed by multiple linear regression and ANOVA. Normative DAD-K data were calculated using natural logarithmic transformation.Results
All DAD-K scores were significantly different among groups (p<0.001). Post hoc analysis showed that instrumental activities of daily living (IADL), executive function and DAD-K total scores began to decline significantly in the very mild stage of AD, whereas the basic activities of daily living (BADL) scores began to decline in the mild stage of AD. The area under the ROC curve differentiating MCI or AD from NC was 0.737 and that differentiating AD from MCI or NC was 0.911. IADL and planning and organization scores were influenced by age and education and performance and DAD-K total scores were influenced by education.Conclusion
The demographic influences on DAD-K scores are not conspicuous and are mainly limited to the IADL and planning and organization scores. Unitary or minimally stratified norms for a specific population were developed for DAD-K application. Our results suggest that the DAD-K is useful for differentiating NC or MCI from AD but not as powerful for differentiating NC from MCI. 相似文献19.
Sook Hui Kim Mee Kyung Suh Sang Won Seo Juhee Chin Seol-Heui Han Duk L. Na 《JOURNAL OF CLINICAL NEUROLOGY》2011,7(4):227-230
Background and Purpose
The occurrence of PWD in neurodegenerative disease is very rare, and this is the first report of it being related to early-onset AD. We describe a patient with early-onset Alzheimer''s disease (AD) who presented with pure word deafness (PWD).Case Report
The patient had experienced PWD for 2 years, followed by other cognitive deficits suggestive of parietotemporal dysfunction. Brain imaging including 18FDG-PET and [11C] PIB-PET supported the diagnosis of AD.Conclusions
Our case highlights the clinical variability that characterizes early-onset AD. 相似文献20.
Jung Goo Lee Bae Sub Shin Young Sun You Ji Eun Kim Sung Wook Yoon Dong Wook Jeon Jun Hyung Baek Sung Woo Park Young Hoon Kim 《Psychiatry investigation》2009,6(4):299-305