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Correlation Between Executive Function and Walk While Crossing Over an Obstacle Under Different Gait Phases 不同步态阶段下跨越障碍时执行功能与行走的相关性
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.4.139
Seung Min Lee, Han Suk Lee
Background and Purpose Dual walking task such as crossing over an obstacle may serve as an excellent tool for predicting early cognitive decline. Thus, this study aimed to investigate correlation between walking while crossing over an obstacle and executive functions under different gait phases to validate the use of walking with an obstacle for predicting early cognitive decline. Methods A cross-sectional study was conducted on 48 elderly individuals from 2 day-care centers and 3 welfare-centers in Seoul and Gyeonggi, Korea. Executive function tests (Trail Making Test, Stroop test) and dual walking tests (gait speed, cadence, stance time, gait cycle time) were performed and compared using partial correlation analysis. Results There were significant correlations between executive function and most of the gait variables (stance time, cadence, and gait cycle time) (p<0.05) when crossing over an obstacle while walking. Especially, stance time exhibited significant correlations with most executive functions (p<0.05). Conclusions When evaluating executive function during walking with an obstacle, post-obstacle-crossing phase and stance time need to be observed.
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引用次数: 0
Combined Endoscopic Third Ventriculostomy and Lumboperitoneal Shunt Surgery in an Elderly Patient With Complex Hydrocephalus: Mixture of Late-onset Obstructive and Communicating Hydrocephaluses. 内镜下第三脑室造瘘联合腰腹腔分流术治疗老年复杂脑积水1例:迟发性梗阻性脑积水和沟通性脑积水混合。
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.1.46
Sang-Youl Yoon, Kyunghun Kang, Chaejin Lee, Jeong-Hyun Hwang, Myoung Hun Hahm, Eunhee Park, Ki-Su Park
Obstructive hydrocephalus due to aqueductal stenosis (AS) is a disease that mainly occurs in children. Late-onset obstructive hydrocephalus due to AS can rarely occur in elderly patients.1 The treatment of obstructive hydrocephalus due to AS by endoscopic third ventriculostomy (ETV) shows good results.2 However, ETV alone cannot be used for treating elderly patients with complex hydrocephalus. This complex hydrocephalus may be accompanied by obstructive and communicating hydrocephaluses due to different causes.3 We present the case of an elderly patient with rare complex hydrocephalus, a combination of lateonset obstructive and communicating hydrocephaluses, treated using combined ETV and lumboperitoneal shunt (LPS) surgeries.
{"title":"Combined Endoscopic Third Ventriculostomy and Lumboperitoneal Shunt Surgery in an Elderly Patient With Complex Hydrocephalus: Mixture of Late-onset Obstructive and Communicating Hydrocephaluses.","authors":"Sang-Youl Yoon,&nbsp;Kyunghun Kang,&nbsp;Chaejin Lee,&nbsp;Jeong-Hyun Hwang,&nbsp;Myoung Hun Hahm,&nbsp;Eunhee Park,&nbsp;Ki-Su Park","doi":"10.12779/dnd.2023.22.1.46","DOIUrl":"https://doi.org/10.12779/dnd.2023.22.1.46","url":null,"abstract":"Obstructive hydrocephalus due to aqueductal stenosis (AS) is a disease that mainly occurs in children. Late-onset obstructive hydrocephalus due to AS can rarely occur in elderly patients.1 The treatment of obstructive hydrocephalus due to AS by endoscopic third ventriculostomy (ETV) shows good results.2 However, ETV alone cannot be used for treating elderly patients with complex hydrocephalus. This complex hydrocephalus may be accompanied by obstructive and communicating hydrocephaluses due to different causes.3 We present the case of an elderly patient with rare complex hydrocephalus, a combination of lateonset obstructive and communicating hydrocephaluses, treated using combined ETV and lumboperitoneal shunt (LPS) surgeries.","PeriodicalId":72779,"journal":{"name":"Dementia and neurocognitive disorders","volume":"22 1","pages":"46-48"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/68/87/dnd-22-46.PMC9939571.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10761411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of COVID-19 Pandemic on Rate of Cognitive Impairment Screening Among the Elderly by Activity of Daily Living in Indochina: A Preliminary Report.
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.1.43
Rujittika Mungmunpuntipantip, Viroj Wiwanitkit
The coronavirus disease 2019 (COVID-19) outbreak has impacted healthcare routine service programs. Priority was given to COVID-19 infection prevention. Personnel and resources for the healthcare industry were reallocated. Effect of the COVID-19 pandemic on common screening practices in public healthcare is a fascinating subject. Prior research has amply demonstrated the value of routine cancer screening, particularly cervical cancer screening.1 Cognitive impairment is still a fairly common medical issue in many parts of the world, particularly Southeast Asia. With routine screening and quick, targeted treatment, the endemicity of this disorder is anticipated to decrease locally.2 An important factor that serves as a barometer for the effectiveness of a public health program is the program’s coverage. In many remote places, early diagnosis and comprehensive care continue to present significant obstacles.3 Although effects of conventional medical care are intriguing, they are rarely discussed. According to the study’s authors, the COVID-19 pandemic had an effect on the elderly who experienced full cognitive impairment in areas where the disorder was a serious concern.
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引用次数: 0
White Matter Lesions Predominantly Located in Deep White Matter Represent Embolic Etiology Rather Than Small Vessel Disease. 白质病变主要位于深部白质代表栓塞病因,而不是小血管疾病。
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.1.28
Young Hee Jung, Seongbeom Park, Na Kyung Lee, Hyun Jeong Han, Hyemin Jang, Hee Jin Kim, Sang Won Seo, Duk Lyul Na

Background and purpose: We investigated the correlation between the deep distribution of white matter hyperintensity (WMH) (dWMH: WMH in deep and corticomedullary areas, with minimal periventricular WMH) and a positive agitated saline contrast echocardiography result.

Methods: We retrospectively recruited participants with comprehensive dementia evaluations, an agitated saline study, and brain imaging. The participants were classified into two groups according to WMH-distributions: dWMH and dpWMH (mainly periventricular WMH with or without deep WMH.) We hypothesized that dWMH is more likely associated with embolism, whereas dpWMH is associated with small-vessel diseases. We compared the clinical characteristics, WMH-distributions, and positive rate of agitated saline studies between the two groups.

Results: Among 90 participants, 27 and 12 met the dWMH and dpWMH criteria, respectively. The dWMH-group was younger (62.2±7.5 vs. 78.9±7.3, p<0.001) and had a lower prevalence of hypertension (29.6% vs. 75%, p=0.008), diabetes mellitus (3.7% vs. 25%, p=0.043), and hyperlipidemia (33.3% vs. 83.3%, p=0.043) than the dpWMH-group. Regarding deep white matter lesions, the number of small lesions (<3 mm) was higher in the dWMH-group(10.9±9.7) than in the dpWMH-group (3.1±6.4) (p=0.008), and WMH was predominantly distributed in the border-zones and corticomedullary areas. Most importantly, the positive agitated saline study rate was higher in the dWMH-group than in the dpWMH-group (81.5% vs. 33.3%, p=0.003).

Conclusions: The dWMH-group with younger participants had fewer cardiovascular risk factors, showed more border-zone-distributions, and had a higher agitated saline test positivity rate than the dpWMH-group, indicating that corticomedullary or deep WMH-distribution with minimal periventricular WMH suggests embolic etiologies.

背景和目的:我们研究了深部白质高强度(WMH)分布(dWMH:深部和皮质髓质区WMH,心室周围WMH最小)与激动生理盐水对比超声心动图阳性结果之间的相关性。方法:我们回顾性地招募了综合痴呆评估、激动生理盐水研究和脑成像的参与者。根据WMH分布将参与者分为两组:dWMH和dpWMH(主要是心室周围WMH,伴或不伴深部WMH)。我们假设dWMH更可能与栓塞相关,而dpWMH与小血管疾病相关。我们比较了两组患者的临床特征、wmh分布和激动生理盐水研究的阳性率。结果:90名参与者中,分别有27名和12名符合dWMH和dpWMH标准。dwmh组比dpwmh组年轻(62.2±7.5比78.9±7.3,pp=0.008),糖尿病(3.7%比25%,p=0.043),高脂血症(33.3%比83.3%,p=0.043)。在深部白质病变中,小病灶数量(p=0.008)和WMH主要分布在边缘区和皮质髓质区。最重要的是,dwmh组的搅拌盐水阳性研究率高于dpwmh组(81.5%比33.3%,p=0.003)。结论:与dpwmh组相比,年轻参与者的dwmh组心血管危险因素较少,边界区分布更多,搅拌盐水试验阳性率更高,表明皮质髓质或深部WMH分布和最小的心室周围WMH提示栓塞病因。
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引用次数: 0
The Seoul Neuropsychological Screening Battery (SNSB) for Comprehensive Neuropsychological Assessment. 综合神经心理评估首尔神经心理筛查组(SNSB)。
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.1.1
Hui Jin Ryu, Dong Won Yang

The Seoul Neuropsychological Screening Battery (SNSB) is known as a representative comprehensive neuropsychological evaluation tool in Korea since its first standardization in 2003. It was the main neuropsychological evaluation tool in the Clinical Research Center for Dementia of South Korea, a large-scale multi-center cohort study in Korea that was started in 2005. Since then, it has been widely used by dementia clinicians, and further solidified its status as a representative dementia evaluation tool in Korea. Many research results related to the SNSB have been used as a basis for the diagnosis and evaluation of patients in various clinical settings, especially, in many areas of cognitive assessment, including dementia evaluation. The SNSB version that was updated in 2012 provides psychometrically improved norms and indicators through a model-based standardization procedure based on a theoretical probability distribution in the norm's development. By providing a score for each cognitive domain, it is easier to compare cognitive abilities between domains and to identify changes in cognitive domain functions over time. Through the development of the SNSB-Core, a short form composed of core tests, which also give a composite score was provided. The SNSB is a useful test battery that provides key information on the evaluation of early cognitive decline, analysis of cognitive decline patterns, judging the severity of dementia, and differential diagnosis of dementia. This review will provide a broad understanding of the SNSB by describing the test composition, contents of individual subtests, characteristics of standardization, analysis of the changed standard score, and related studies.

首尔神经心理筛查组(SNSB)于2003年首次标准化,被称为国内代表性的神经心理综合评价工具。它是韩国痴呆症临床研究中心的主要神经心理学评估工具,这是韩国2005年开始的一项大规模多中心队列研究。此后,它被痴呆症临床医生广泛使用,并进一步巩固了其作为韩国代表性痴呆症评估工具的地位。许多与SNSB相关的研究成果已经在各种临床环境中被用作诊断和评估患者的基础,特别是在许多认知评估领域,包括痴呆评估。2012年更新的SNSB版本通过基于规范发展理论概率分布的基于模型的标准化程序,在心理计量学上改进了规范和指标。通过为每个认知领域提供分数,可以更容易地比较不同领域之间的认知能力,并确定认知领域功能随时间的变化。通过开发SNSB-Core,提供了一个由核心测试组成的简短形式,这些测试也给出了一个综合分数。SNSB是一个有用的测试组合,为早期认知能力下降的评估、认知能力下降模式的分析、判断痴呆的严重程度和痴呆的鉴别诊断提供了关键信息。本综述将通过描述SNSB的测试组成、单个子测试的内容、标准化的特征、标准分数变化的分析以及相关研究,提供对SNSB的广泛理解。
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引用次数: 15
Time Perception and Memory in Mild Cognitive Impairment and Alzheimer’s Disease: A Preliminary Study 轻度认知障碍和阿尔茨海默病的时间感知和记忆:初步研究
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.4.148
Sung-Ho Woo, Jarang Hahm, Jeong-Sug Kyong, Hang-Rai Kim, Kwang Ki Kim
Background and Purpose Episodic memory is a system that receives and stores information about temporally dated episodes and their interrelations. Our study aimed to investigate the relevance of episodic memory to time perception, with a specific focus on simultaneity/order judgment. Methods Experiment 1 employed the simultaneity judgment task to discern differences in time perception between patients with mild cognitive impairment or dementia, and age-matched normals. A mathematical analysis capable of estimating subjects’ time processing was utilized to identify the sensory and decisional components of temporal order and simultaneity judgment. Experiment 2 examined how differences in temporal perception relate to performance in temporal order memory, in which time delays play a critical role. Results The temporal decision windows for both temporal order and simultaneity judgments exhibited marginal differences between patients with episodic memory impairment, and their healthy counterparts (p = 0.15, t(22) = 1.34). These temporal decision windows may be linked to the temporal separation of events in episodic memory (Pearson’s ρ = −0.53, p = 0.05). Conclusions Based on our findings, the frequency of visual events accumulated and encoded in the working memory system in the patients’ and normal group appears to be approximately (5.7 and 11.2) Hz, respectively. According to the internal clock model, a lower frequency of event pulses tends to result in underestimation of event duration, which phenomenon might be linked to the observed time distortions in patients with dementia.
{"title":"Time Perception and Memory in Mild Cognitive Impairment and Alzheimer’s Disease: A Preliminary Study","authors":"Sung-Ho Woo, Jarang Hahm, Jeong-Sug Kyong, Hang-Rai Kim, Kwang Ki Kim","doi":"10.12779/dnd.2023.22.4.148","DOIUrl":"https://doi.org/10.12779/dnd.2023.22.4.148","url":null,"abstract":"Background and Purpose Episodic memory is a system that receives and stores information about temporally dated episodes and their interrelations. Our study aimed to investigate the relevance of episodic memory to time perception, with a specific focus on simultaneity/order judgment. Methods Experiment 1 employed the simultaneity judgment task to discern differences in time perception between patients with mild cognitive impairment or dementia, and age-matched normals. A mathematical analysis capable of estimating subjects’ time processing was utilized to identify the sensory and decisional components of temporal order and simultaneity judgment. Experiment 2 examined how differences in temporal perception relate to performance in temporal order memory, in which time delays play a critical role. Results The temporal decision windows for both temporal order and simultaneity judgments exhibited marginal differences between patients with episodic memory impairment, and their healthy counterparts (p = 0.15, t(22) = 1.34). These temporal decision windows may be linked to the temporal separation of events in episodic memory (Pearson’s ρ = −0.53, p = 0.05). Conclusions Based on our findings, the frequency of visual events accumulated and encoded in the working memory system in the patients’ and normal group appears to be approximately (5.7 and 11.2) Hz, respectively. According to the internal clock model, a lower frequency of event pulses tends to result in underestimation of event duration, which phenomenon might be linked to the observed time distortions in patients with dementia.","PeriodicalId":72779,"journal":{"name":"Dementia and neurocognitive disorders","volume":"178 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135667378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic Tools for Alzheimer's Disease: A Narrative Review Based on Our Own Research Experience. 阿尔茨海默病的诊断工具:基于我们自己研究经验的叙述性回顾。
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.1.16
So-Hee Park, Kyoung Ja Kwon, Min Young Kim, Jae-Hun Kim, Won-Jin Moon, Hui Jin Ryu, Jae Won Jang, Yeonsil Moon

Alzheimer's disease (AD), one of the most representative neurodegenerative diseases, has diverse neurobiological and pathophysiological mechanisms. Treatment strategies targeting a single mechanism have repeated faced failures because the mechanism of neuronal cell death is very complex that is not fully understood yet. Since complex mechanisms exist to explain AD, a variety of diagnostic biomarkers for diagnosing AD are required. Moreover, standardized evaluations for comprehensive diagnosis using neuropsychological, imaging, and laboratory tools are needed. In this review, we summarize the latest clinical, neuropsychological, imaging, and laboratory evaluations to diagnose patients with AD based on our own experience in conducting a prospective study.

阿尔茨海默病(Alzheimer's disease, AD)是最具代表性的神经退行性疾病之一,其发病机制具有多种神经生物学和病理生理机制。针对单一机制的治疗策略一再面临失败,因为神经元细胞死亡的机制非常复杂,尚未完全了解。由于AD存在复杂的解释机制,因此需要多种诊断性生物标志物来诊断AD。此外,需要使用神经心理学、影像学和实验室工具对综合诊断进行标准化评估。在这篇综述中,我们根据自己进行前瞻性研究的经验,总结了最新的临床、神经心理学、影像学和实验室评估来诊断AD患者。
{"title":"Diagnostic Tools for Alzheimer's Disease: A Narrative Review Based on Our Own Research Experience.","authors":"So-Hee Park,&nbsp;Kyoung Ja Kwon,&nbsp;Min Young Kim,&nbsp;Jae-Hun Kim,&nbsp;Won-Jin Moon,&nbsp;Hui Jin Ryu,&nbsp;Jae Won Jang,&nbsp;Yeonsil Moon","doi":"10.12779/dnd.2023.22.1.16","DOIUrl":"https://doi.org/10.12779/dnd.2023.22.1.16","url":null,"abstract":"<p><p>Alzheimer's disease (AD), one of the most representative neurodegenerative diseases, has diverse neurobiological and pathophysiological mechanisms. Treatment strategies targeting a single mechanism have repeated faced failures because the mechanism of neuronal cell death is very complex that is not fully understood yet. Since complex mechanisms exist to explain AD, a variety of diagnostic biomarkers for diagnosing AD are required. Moreover, standardized evaluations for comprehensive diagnosis using neuropsychological, imaging, and laboratory tools are needed. In this review, we summarize the latest clinical, neuropsychological, imaging, and laboratory evaluations to diagnose patients with AD based on our own experience in conducting a prospective study.</p>","PeriodicalId":72779,"journal":{"name":"Dementia and neurocognitive disorders","volume":"22 1","pages":"16-27"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c2/f5/dnd-22-16.PMC9939574.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10754181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Facial Emotion Recognition in Older Adults With Cognitive Complaints 有认知障碍的老年人面部情绪识别
Pub Date : 2023-01-01 DOI: 10.12779/dnd.2023.22.4.158
YongSoo Shim
Background and Purpose Facial emotion recognition deficits impact the daily life, particularly of Alzheimer’s disease patients. We aimed to assess these deficits in the following three groups: subjective cognitive decline (SCD), mild cognitive impairment (MCI), and mild Alzheimer’s dementia (AD). Additionally, we explored the associations between facial emotion recognition and cognitive performance. Methods We used the Korean version of the Florida Facial Affect Battery (K-FAB) in 72 SCD, 76 MCI, and 76 mild AD subjects. The comparison was conducted using the analysis of covariance (ANCOVA), with adjustments being made for age and sex. The Mini-Mental State Examination (MMSE) was utilized to gauge the overall cognitive status, while the Seoul Neuropsychological Screening Battery (SNSB) was employed to evaluate the performance in the following five cognitive domains: attention, language, visuospatial abilities, memory, and frontal executive functions. Results The ANCOVA results showed significant differences in K-FAB subtests 3, 4, and 5 (p=0.001, p=0.003, and p=0.004, respectively), especially for anger and fearful emotions. Recognition of ‘anger’ in the FAB subtest 5 declined from SCD to MCI to mild AD. Correlations were observed with age and education, and after controlling for these factors, MMSE and frontal executive function were associated with FAB tests, particularly in the FAB subtest 5 (r=0.507, p<0.001 and r=−0.288, p=0.026, respectively). Conclusions Emotion recognition deficits worsened from SCD to MCI to mild AD, especially for negative emotions. Complex tasks, such as matching, selection, and naming, showed greater deficits, with a connection to cognitive impairment, especially frontal executive dysfunction.
{"title":"Facial Emotion Recognition in Older Adults With Cognitive Complaints","authors":"YongSoo Shim","doi":"10.12779/dnd.2023.22.4.158","DOIUrl":"https://doi.org/10.12779/dnd.2023.22.4.158","url":null,"abstract":"Background and Purpose Facial emotion recognition deficits impact the daily life, particularly of Alzheimer’s disease patients. We aimed to assess these deficits in the following three groups: subjective cognitive decline (SCD), mild cognitive impairment (MCI), and mild Alzheimer’s dementia (AD). Additionally, we explored the associations between facial emotion recognition and cognitive performance. Methods We used the Korean version of the Florida Facial Affect Battery (K-FAB) in 72 SCD, 76 MCI, and 76 mild AD subjects. The comparison was conducted using the analysis of covariance (ANCOVA), with adjustments being made for age and sex. The Mini-Mental State Examination (MMSE) was utilized to gauge the overall cognitive status, while the Seoul Neuropsychological Screening Battery (SNSB) was employed to evaluate the performance in the following five cognitive domains: attention, language, visuospatial abilities, memory, and frontal executive functions. Results The ANCOVA results showed significant differences in K-FAB subtests 3, 4, and 5 (p=0.001, p=0.003, and p=0.004, respectively), especially for anger and fearful emotions. Recognition of ‘anger’ in the FAB subtest 5 declined from SCD to MCI to mild AD. Correlations were observed with age and education, and after controlling for these factors, MMSE and frontal executive function were associated with FAB tests, particularly in the FAB subtest 5 (r=0.507, p<0.001 and r=−0.288, p=0.026, respectively). Conclusions Emotion recognition deficits worsened from SCD to MCI to mild AD, especially for negative emotions. Complex tasks, such as matching, selection, and naming, showed greater deficits, with a connection to cognitive impairment, especially frontal executive dysfunction.","PeriodicalId":72779,"journal":{"name":"Dementia and neurocognitive disorders","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135667376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation. ABCD1基因突变导致脑白质营养不良患者进行性认知和行为改变。
Pub Date : 2022-10-01 Epub Date: 2022-10-31 DOI: 10.12779/dnd.2022.21.4.162
Jinseok Park, Sanggon Lee, Heerah Lee, Jee Soo Lee, Moon-Woo Seong, Hee-Jin Kim
Adrenoleukodystrophy (ALD) is caused by a mutation in the ABCD1 gene, which is located on the X-chromosome (Xq28).1 Peroxisomal dysfunction leads to accumulation of very long-chain fatty acids (VLCFA) in adrenal glands and peripheral white matter of the central nervous system.2 In contrast to childhood-onset ALD, adult-onset ALD is relatively rare and asymptomatic until the 4th decade of life.1 Since ALD has X-linked inheritance, it is difficult to prioritize genetic testing when there are only a few family members. In addition, if there are extensive white matter changes without a definitive family history, early diagnosis is difficult because other etiologies such as demyelinating disease should be given priority consideration. Herein, we report a sporadic case of adult-onset ALD caused by ABCD1 mutation. The condition was originally thought to be a demyelinating disease. Therefore, the ALD diagnosis was delayed.
{"title":"Progressive Cognitive and Behavioral Changes With Leukodystrophy due to <i>ABCD1</i> Gene Mutation.","authors":"Jinseok Park,&nbsp;Sanggon Lee,&nbsp;Heerah Lee,&nbsp;Jee Soo Lee,&nbsp;Moon-Woo Seong,&nbsp;Hee-Jin Kim","doi":"10.12779/dnd.2022.21.4.162","DOIUrl":"https://doi.org/10.12779/dnd.2022.21.4.162","url":null,"abstract":"Adrenoleukodystrophy (ALD) is caused by a mutation in the ABCD1 gene, which is located on the X-chromosome (Xq28).1 Peroxisomal dysfunction leads to accumulation of very long-chain fatty acids (VLCFA) in adrenal glands and peripheral white matter of the central nervous system.2 In contrast to childhood-onset ALD, adult-onset ALD is relatively rare and asymptomatic until the 4th decade of life.1 Since ALD has X-linked inheritance, it is difficult to prioritize genetic testing when there are only a few family members. In addition, if there are extensive white matter changes without a definitive family history, early diagnosis is difficult because other etiologies such as demyelinating disease should be given priority consideration. Herein, we report a sporadic case of adult-onset ALD caused by ABCD1 mutation. The condition was originally thought to be a demyelinating disease. Therefore, the ALD diagnosis was delayed.","PeriodicalId":72779,"journal":{"name":"Dementia and neurocognitive disorders","volume":"21 4","pages":"162-164"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/78/08/dnd-21-162.PMC9644059.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40698323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Need for an Update for the Guideline for the Management of Mild Cognitive Impairment. 轻度认知障碍管理指南需要更新。
Pub Date : 2022-10-01 Epub Date: 2022-10-25 DOI: 10.12779/dnd.2022.21.4.107
Minji Kim, So Young Moon

Attention is being paid to diagnosis and treatment of mild cognitive impairment (MCI) because early diagnosis and preventive management can slow down the progression of Alzheimer's disease. In particular, in the present era, the use of biomarkers for predicting conversion into dementia is permitted in medical practice. Therefore, authors aimed to propose additional considerations when updating guidelines for the management of MCI, including predictable biomarkers, revising treatment option after additional clinical trials for cholinesterase inhibitors, and detailed regimes for lifestyle interventions. After reviewing 3 patients with MCI by detailed evaluation, we realized that cholinesterase inhibitors were not recommended. In addition, regular exercise and cognitive training were only possible recommendations for patients according to current guidelines, although all 3 patients had evidence of β-amyloid accumulation and related neurodegeneration. Furthermore, caregivers for all 3 patients were worried whether patients could keep doing regular exercise and cognitive training by themselves and asked about the economic training system which monitors patients so that they can keep training. Therefore, we propose that guidelines for managing MCI need to be updated in the present era when the use of biomarkers for predicting conversion into dementia is permitted in medical practice.

轻度认知障碍(MCI)的诊断和治疗受到重视,因为早期诊断和预防性管理可以减缓阿尔茨海默病的进展。特别是,在当今时代,在医疗实践中允许使用生物标志物来预测转化为痴呆症。因此,作者的目的是在更新MCI管理指南时提出额外的考虑因素,包括可预测的生物标志物,在胆碱酯酶抑制剂的额外临床试验后修改治疗方案,以及详细的生活方式干预方案。在对3例MCI患者进行详细评估后,我们意识到不推荐使用胆碱酯酶抑制剂。此外,尽管所有3例患者都有β-淀粉样蛋白积累和相关神经变性的证据,但根据目前的指南,定期运动和认知训练是唯一可能的建议。此外,3名患者的护理人员都担心患者是否能够坚持自己的定期运动和认知训练,并询问经济训练系统,该系统监控患者以使他们能够坚持训练。因此,我们建议,当医学实践中允许使用生物标志物来预测转化为痴呆时,管理MCI的指南需要更新。
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引用次数: 0
期刊
Dementia and neurocognitive disorders
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