scholarly journals Late Onset Alzheimer Dementia in Patient with Genotype E3/E4: A Case Report

2021 ◽  
Vol 8 (11) ◽  
pp. 282-285
Author(s):  
Irfan Kurnia Kaban ◽  
Yudha Haryono

ackground: Alzheimer's dementia (AD) is a neurodegenerative disorder and there is progressive cognitive impairment, functional deficits and behavioral changes. This neurodegenerative disease process is classically characterized by two pathological features: amyloid- β plaque deposition and neurofibrillary tangle of tau hyperphosphorylation. The most established genetic risk factor for late-onset Alzheimer Disease is the APOE gene allele 4. We will report a case of late-onset Alzheimer's Dementia with genotype E3/E4. Case: A 70-years-old woman patient, complained by her family that she often forgets. The Mini Mental State Examination showed disturbances in orientation, attention, calculation and recall. Non-contrast Brain Magnetic resonance imaging examination revealed decrease in hippocampal volume. Patient also performed a molecular examination of the Apolipoprotein E (APOE) genotype and the genotype E3/E4 was detected Conclusion: The APOE E4 gene has a major role in the occurrence of Late-Onset Alzheimer's Dementia. Keywords: Alzheimer Dementia, Apolipoprotein E.

1997 ◽  
Vol 95 (1) ◽  
pp. 56-59 ◽  
Author(s):  
J. Kálmán ◽  
A. Juhász ◽  
A. Császár ◽  
A. Kanka ◽  
E. Maglóczky ◽  
...  

2011 ◽  
Vol 23 (3) ◽  
pp. 132-138 ◽  
Author(s):  
Christos Sidiropoulos ◽  
Kourosh Jafari-Khouzani ◽  
Hamid Soltanian-Zadeh ◽  
Panayiotis Mitsias ◽  
Panagiotis Alexopoulos ◽  
...  

Objective: Brain-derived neurotrophic factor (BDNF) and apolipoprotein E (ApoE) are thought to be implicated in a variety of neuronal processes, including cell growth, resilience to noxious stimuli and synaptic plasticity. A Val to Met substitution at codon 66 in the BDNF protein has been associated with a variety of neuropsychiatric conditions. The ApoE4 allele is considered a risk factor for late-onset Alzheimer's disease, but its effects on young adults are less clear. We sought to investigate the effects of those two polymorphisms on hemispheric and lateral ventricular volumes of young healthy adults.Methods: Hemispheric and lateral ventricular volumes of 144 healthy individuals, aged 19–35 years, were measured using high resolution magnetic resonance imaging and data were correlated with BDNF and ApoE genotypes.Results: There were no correlations between BDNF or ApoE genotype and hemispheric or lateral ventricular volumes.Conclusion: These findings indicate that it is unlikely that either the BDNF Val66Met or ApoE polymorphisms exert any significant effect on hemispheric or lateral ventricular volume. However, confounding epistatic genetic effects as well as relative insensitivity of the volumetric methods used cannot be ruled out. Further imaging analyses are warranted to better define any genetic influence of the BDNF Val6Met and ApoE polymorphism on brain structure of young healthy adults.


2021 ◽  
Vol 9 (C) ◽  
pp. 5-9
Author(s):  
Anak Agung Ayu Putri Laksmidewi ◽  
Chiquita Putri Vania Rau

BACKGROUND: Dementia is one of the leading causes of disability and dependence in elderly worldwide. Epidemiological statistics indicate that data show that at about 60–80%, Alzheimer’s is the most common type of dementia. Alzheimer’s is also the third-most prominent cause of death in elderly. CASE REPORT: A 72-years-old male patient, complained by the family often forgets about things that have just been done for 3 years ago. According to the family, patient also often discussing the same things repeatedly. Patients tend not to have the initiative to start his daily activities. The family admitted that patient also became often angry and felt suspicious for the last 2 years. From the mini mental state examination showed disturbances in time orientation and recall; from Montreal Cognitive Assessment Ina found disturbances in visuospatial, fluency, abstraction, delayed memory, and time orientation; accompanied by activities of daily living (ADL) and instrumental ADL disorders. Patient also performed a molecular examination of the apolipoprotein E (APOE) genotype and the genotype E3/E4 was detected. CONCLUSION: The function of the APOE gene, in particular APOE4, is the most emphasized genetic relationship in late onset Alzheimer’s disease. It is proposed that blocking the action of APOE4 can delay or stop Alzheimer’s disease progression.


2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Troy T. Rohn

Alzheimer's disease (AD) is an age-related neurodegenerative disorder characterized by a progressive loss of memory and cognitive skills. Although much attention has been devoted concerning the contribution of the microscopic lesions, senile plaques, and neurofibrillary tangles to the disease process, inflammation has long been suspected to play a major role in the etiology of AD. Recently, a novel variant in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2) has been identified that has refocused the spotlight back onto inflammation as a major contributing factor in AD. Variants in TREM2 triple one's risk of developing late-onset AD. TREM2 is expressed on microglial cells, the resident macrophages in the CNS, and functions to stimulate phagocytosis on one hand and to suppress cytokine production and inflammation on the other hand. The purpose of this paper is to discuss these recent developments including the potential role that TREM2 normally plays and how loss of function may contribute to AD pathogenesis by enhancing oxidative stress and inflammation within the CNS. In this context, an overview of the pathways linking beta-amyloid, neurofibrillary tangles (NFTs), oxidative stress, and inflammation will be discussed.


2019 ◽  
Vol 7 (1) ◽  
pp. 674-684
Author(s):  
Idauli Simbolon ◽  
Christine Sacha ◽  
Evelyn Hemme ◽  
Sapti Heru Widyarti

Introduction: Previous phenomenological studies explain that family member faced many consequences in caring for family members with Alzheimer’s Dementia at home. The consequences are in the form of the impact of financial, social and psychological pressure. Considering such consequences, families especially in Eastern cultures will continue to care for their elderly at home for reasons of compassion or retribution toward parents even though they feel frustrated and burdened. The purpose of this study is to describe the life experience of Seventh-day Adventist church member in caring for their parent who suffer from Alzheimer’s Dementia. Method: This qualitative study is using phenomenological design. There are 3 participants are selected who are fit with the inclusion criterions: immediate family member, seventh-day Adventist church member, live together with their Alzheimer’s Dementia parent who suffer at least 2 years of dementia, and agree to sign inform consent after the full explanation of the study. Data are gathered using semi structured face to face interview in participant’s home setting. Data than transcribed in to world document and analysed using Cresswel step by step content analysis. Result: There are five negative categories of family member experiences in taking care of their Alzheimer’s Dementia parent: 1) physical abuse, 2) psychological abuse, 3) social limitation, 4) spiritual distress, and 5) knowledge deficit. It also found that there are several coping mechanism or adaptation made by family member in caring their Alzheimer Dementia parent: 1) family members are motivated to learn more about Alzheimer Dementia, 2) spiritual growth that they pray more often and surrendered to God, 3) increase understanding toward elderly. Discussion:  Based on the result of the study, all the informants experienced pressures in all holistic aspects of life. If they are not able to cope with the pressure, illness may be arrived and made the family situation become worse. Therefore, professional health care must provide support to the family who take care of their Alzheimer Dementia family, Introduction: Previous phenomenological studies explain that family member faced many consequences in caring for family members with Alzheimer’s Dementia at home. The consequences are in the form of the impact of financial, social and psychological pressure. Considering such consequences, families especially in Eastern cultures will continue to care for their elderly at home for reasons of compassion or retribution toward parents even though they feel frustrated and burdened. The purpose of this study is to describe the life experience of Seventh-day Adventist church member in caring for their parent who suffer from Alzheimer’s Dementia. Method: This qualitative study is using phenomenological design. There are 3 participants are selected who are fit with the inclusion criterions: immediate family member, seventh-day Adventist church member, live together with their Alzheimer’s Dementia parent who suffer at least 2 years of dementia, and agree to sign inform consent after the full explanation of the study. Data are gathered using semi structured face to face interview in participant’s home setting. Data than transcribed in to world document and analysed using Cresswel step by step content analysis. Result: There are five negative categories of family member experiences in taking care of their Alzheimer’s Dementia parent: 1) physical abuse, 2) psychological abuse, 3) social limitation, 4) spiritual distress, and 5) knowledge deficit. It also found that there are several coping mechanism or adaptation made by family member in caring their Alzheimer Dementia parent: 1) family members are motivated to learn more about Alzheimer Dementia, 2) spiritual growth that they pray more often and surrendered to God, 3) increase understanding toward elderly. Discussion:  Based on the result of the study, all the informants experienced pressures in all holistic aspects of life. If they are not able to cope with the pressure, illness may be arrived and made the family situation become worse. Therefore, professional health care must provide support to the family who take care of their Alzheimer Dementia family,


2021 ◽  
Vol 4 ◽  
Author(s):  
James Howlett ◽  
Steven M. Hill ◽  
Craig W. Ritchie ◽  
Brian D. M. Tom

A key challenge for the secondary prevention of Alzheimer’s dementia is the need to identify individuals early on in the disease process through sensitive cognitive tests and biomarkers. The European Prevention of Alzheimer’s Dementia (EPAD) consortium recruited participants into a longitudinal cohort study with the aim of building a readiness cohort for a proof-of-concept clinical trial and also to generate a rich longitudinal data-set for disease modelling. Data have been collected on a wide range of measurements including cognitive outcomes, neuroimaging, cerebrospinal fluid biomarkers, genetics and other clinical and environmental risk factors, and are available for 1,828 eligible participants at baseline, 1,567 at 6 months, 1,188 at one-year follow-up, 383 at 2 years, and 89 participants at three-year follow-up visit. We novelly apply state-of-the-art longitudinal modelling and risk stratification approaches to these data in order to characterise disease progression and biological heterogeneity within the cohort. Specifically, we use longitudinal class-specific mixed effects models to characterise the different clinical disease trajectories and a semi-supervised Bayesian clustering approach to explore whether participants can be stratified into homogeneous subgroups that have different patterns of cognitive functioning evolution, while also having subgroup-specific profiles in terms of baseline biomarkers and longitudinal rate of change in biomarkers.


2020 ◽  
Vol 16 (S5) ◽  
Author(s):  
Rachel A Patterson ◽  
Heather J Brooks ◽  
Reza Zomorrodi ◽  
Sanjeev Kumar ◽  
Daniel M Blumberger ◽  
...  

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