A genetic test for Alzheimer's disease?

1994 ◽  
Vol 18 (10) ◽  
pp. 645-645 ◽  
Author(s):  
Simon Lovestone ◽  
Peter Harper
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Basis ◽  
Genetic Research ◽  
Predictive Testing ◽  
Clinical Genetic ◽  
Patient Organisations ◽  
Research Findings ◽  
Disease Experience ◽  
The Uk

Recent years have seen considerable progress in understanding the genetic basis of many diseases. There has also been a welcome and informed public debate regarding the ethical and social implications of genetic research, including predictive testing of adult onset illnesses. The UK Huntington's Prediction Consortium, a forum open to scientists, clinicians and representives from patient organisations, has established protocols for testing and has facilitated development of clinical genetic services. It has been suggested that the Huntington's disease experience might prove informative for other conditions, and a meeting was held on 5 January 1994 at the Institute of Psychiatry, London, to discuss recent research findings and possible genetic testing in Alzheimer's disease (AD). Professionals from a number of disciplines took part along with representatives of the Alzheimer's Disease Society. It was decided to form a consortium that would meet regularly and produce guidelines for future clinical applications of possible genetic tests.

scholarly journals Breast Cancer, Alzheimer’s Disease, and APOE4 Allele in the UK Biobank Cohort

2021 ◽  
Vol 5 (1) ◽  
pp. 49-53
Author(s):  
Steven Lehrer ◽  
Peter H. Rheinstein
Keyword(s):  
Breast Cancer ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Apoe Genotype ◽  
Uk Biobank ◽  
Breast Cancer Patients ◽  
Apoe4 Allele ◽  
Significant Difference ◽  
The Uk ◽  
Cognitive Problems

Background: Cognitive problems are common in breast cancer patients. The apolipoprotein E4 (APOE4) gene, a risk factor for Alzheimer’s disease (AD), may be associated with cancer-related cognitive decline. Objective: To further evaluate the effects of the APOE4 allele, we studied a cohort of patients from the UK Biobank (UKB) who had breast cancer; some also had AD. Methods: Our analysis included all subjects with invasive breast cancer. Single nucleotide polymorphism (SNP) data for rs 429358 and rs 7412 was used to determine APOE genotypes. Cognitive function as numeric memory was assessed with an online test (UKB data field 20240). Results: We analyzed data from 2,876 women with breast cancer. Of the breast cancer subjects, 585 (20%) carried the APOE4 allele. Numeric memory scores were significantly lower in APOE4 carriers and APOE4 homozygotes than non-carriers (p = 0.046). 34 breast cancer subjects (1.1%) had AD. There was no significant difference in survival among genotypes ɛ3/ɛ3, ɛ3/ɛ4, and ɛ4/ɛ4. Conclusion: UKB data suggest that cognitive problems in women with breast cancer are, for the most part, mild, compared with other sequelae of the disease. AD, the worst cognitive problem, is relatively rare (1.1%) and, when it occurs, APOE genotype has little impact on survival.

The Dissemination of Research Findings: Some Limitations Revealed When Attempting a Meta-Analysis

1986 ◽  
Vol 20 (3) ◽  
pp. 384-385 ◽  
Author(s):  
A. F. Jorm
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Meta Analysis ◽  
Descriptive Statistics ◽  
Additional Information ◽  
Dissemination Of Research ◽  
Drug Treatments ◽  
Research Findings

A meta-analysis of the literature on drug treatments for Alzheimer's disease revealed the following limitations in the dissemination of research findings: multiple publication of findings, failure to report basic descriptive statistics and failure to respond to written requests for additional information on the research. The possible reasons for these problems and remedies for them are discussed.

scholarly journals Assessing the Progression of Alzheimer’s Disease in Real-World Settings in Three European Countries

2021 ◽  
Vol 80 (2) ◽  
pp. 749-759
Author(s):  
Albert Lladó ◽  
Lutz Froelich ◽  
Rezaul K. Khandker ◽  
Montserrat Roset ◽  
Christopher M. Black ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Mixed Model ◽  
Primary Objective ◽  
Community Dwelling ◽  
Behavioral Changes ◽  
The Uk ◽  
State Examination ◽  
Study Inclusion

Background: There exists considerable variation in disease progression rates among patients with Alzheimer’s disease (AD). Objective: The primary objective of this observational study is to assess the progression of AD by characterizing cognitive, functional, and behavioral changes during the follow-up period between 6 and 24 months. Methods: A longitudinal prospective study with community-dwelling patients with an established clinical diagnosis of AD of mild to moderate severity was conducted in Germany, Spain and the UK. A sample of 616 patients from 69 sites was included. Results: Patients had a mean of 1.9 years (SD = 1.9) since AD diagnosis at study inclusion. Cognitive symptoms were reported to have first occurred a mean of 1.1 years (SD = 1.7) prior to AD diagnosis and 1.4 (SD = 1.8) years prior to AD treatment. Patients initially diagnosed with mild and moderate AD spent a median (95%CI) of 3.7 (2.8; 4.4) and 11.1 (6.1, ‘not reached’) years until progression to moderate and severe AD, respectively, according to the Mini-Mental State Examination (MMSE) scores. A mixed model developed for cognitive, functional, and neuropsychiatric scores, obtained from study patients at baseline and during follow-up period, showed progressive deterioration of AD patients over time. Conclusion: The study showed a deterioration of cognitive, functional, and neuropsychiatric functions during the follow-up period. Cognitive deterioration was slightly faster in patients with moderate AD compared to mild AD. The duration of moderate AD can be overestimated due to the use of retrospective data, lack of availability of MMSE scores in clinical charts and exclusion of patients at time of institutionalization.

scholarly journals Knowledge and perceptions of Alzheimer’s disease in three ethnic groups of younger adults in the United Kingdom

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Aysegul Humeyra Kafadar ◽  
Christine Barrett ◽  
Kei Long Cheung
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Ethnic Groups ◽  
Cultural Beliefs ◽  
Education Level ◽  
Age Group ◽  
Knowledge Level ◽  
Younger Adults ◽  
Gender Education ◽  
The Uk

Abstract Background Alzheimer’s disease (AD) is a global public health problem with an ageing population. Knowledge is essential to promote early awareness, diagnosis and treatment of AD symptoms. AD knowledge is influenced by many cultural factors including cultural beliefs, attitudes and language barriers. This study aims: (1) to define AD knowledge level and perceptions amongst adults between 18 and 49 years of age in the UK; (2) to compare knowledge and perceptions of AD among three main ethnic groups (Asian, Blacks, and Whites); and (3) to assess potential associations of age, gender, education level, affinity with older people (65 or over), family history and caregiving history with AD knowledge. Methods Data was collected from 186 participants as a convenience sample of younger adults of three different ethnicities (16.1% Asian, 16.7% Black, 67.2% White), living in the UK, recruited via an online research platform. The majority of the participants were in the 18–34 years age group (87.6%). Demographic characteristics of participants and AD knowledge correlation were assessed by the 30-item Alzheimer’s Disease Knowledge Scale (ADKS), comprising 7 content domains. ANOVA/ANCOVA were used to assess differences in AD knowledge by ethnicity, gender, education level, age and affinity with dementia and Alzheimer’s patients. Results For AD general knowledge across all respondents only 45.0% answers were correct. No significant differences were found for the total ADKS score between ethnicities in this younger age group, who did not differ in education level. However, there were significant knowledge differences for the ADKS symptom domain score even after controlling for other demographics variables such as gender, education level (p = 0.005). White respondents were more likely to know about AD symptoms than their Black counterparts (p = 0.026). Conclusion The study’s findings suggest that the AD knowledge level is not adequate for all ethnic groups. Meanwhile, significant differences were observed in symptoms, between ethnic groups, and therefore, differ in their needs regards health communication. The study contributes to an understanding of ethnicity differences in AD knowledge amongst adults from 18 to 49 years of age in the UK and may also provide input into an intervention plan for different ethnicities’ information needs.

scholarly journals Genetic overlap between Alzheimer’s disease and depression mapped onto the brain

2021 ◽  
Author(s):  
Jennifer Monereo Sánchez ◽  
Miranda T. Schram ◽  
Oleksandr Frei ◽  
Kevin O’Connell ◽  
Alexey A. Shadrin ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genome Wide Association Study ◽  
Brain Mri ◽  
Genetic Correlations ◽  
Gaussian Mixture ◽  
Brain Morphology ◽  
Uk Biobank ◽  
Genetic Overlap ◽  
The Uk

ABSTRACTBackgroundAlzheimer’s disease (AD) and depression are debilitating brain disorders that are often comorbid. Shared brain mechanisms have been implicated, yet findings are inconsistent, reflecting the complexity of the underlying pathophysiology. As both disorders are (partly) heritable, characterizing their genetic overlap may provide etiological clues. While previous studies have indicated negligible genetic correlations, this study aims to expose the genetic overlap that may remain hidden due to mixed directions of effects.MethodsWe applied Gaussian mixture modelling, through MiXeR, and conjunctional false discovery rate (cFDR) analysis, through pleioFDR, to genome-wide association study (GWAS) summary statistics of AD (n=79,145) and depression (n=450,619). The effects of identified overlapping loci on AD and depression were tested in 403,029 participants of the UK Biobank (mean age 57.21 52.0% female), and mapped onto brain morphology in 30,699 individuals with brain MRI data.ResultsMiXer estimated 98 causal genetic variants overlapping between the two disorders, with 0.44 concordant directions of effects. Through pleioFDR, we identified a SNP in the TMEM106B gene, which was significantly associated with AD (B=-0.002, p=9.1×10−4) and depression (B=0.007, p=3.2×10−9) in the UK Biobank. This SNP was also associated with several regions of the corpus callosum volume anterior (B>0.024, p<8.6×10−4), third ventricle volume ventricle (B=-0.025, p=5.0×10−6), and inferior temporal gyrus surface area (B=0.017, p=5.3×10−4).DiscussionOur results indicate there is substantial genetic overlap, with mixed directions of effects, between AD and depression. These findings illustrate the value of biostatistical tools that capture such overlap, providing insight into the genetic architectures of these disorders.

scholarly journals The Genetic Research in Alzheimer Disease (GERALD) Initiative Finds rs9320913 as a Neural eQTL of lincRNA AL589740.1

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Lidia Lopez-Gutierrez ◽  
José María García-Alberca ◽  
Silvia Mendoza ◽  
Esther Gris ◽  
María Paz De la Guía ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Alzheimer Disease ◽  
Mental State ◽  
Fluid Intelligence ◽  
Educational Achievement ◽  
Disease Risk ◽  
Genetic Research ◽  
Gene Desert ◽  
Factors Affecting

Alzheimer’s disease is the most common cause of dementia worldwide, and longitudinal studies are crucial to find the factors affecting disease development. Here, we describe a novel initiative from southern Spain designed to contribute in the identification of the genetic component of the cognitive decline of Alzheimer’s disease patients. The germline variant rs9320913 is a C>A substitution mapping within a gene desert. Although it has been previously associated to a higher educational achievement and increased fluid intelligence, its role on Alzheimer’s disease risk and progression remains elusive. A total of 407 subjects were included in the study, comprising 153 Alzheimer disease patients and 254 healthy controls. We have explored the rs9320913 contribution to both Alzheimer disease risk and progression according to the Mini-Mental State Exams. We found that rs9320913 maps within a central nervous system lincRNA AL589740.1. eQTL results show that rs9320913 correlated with the brain-frontal cortex ( beta = − 0.15 , p value = 0.057) and brain-spinal cord (beta of -0.23, p value = 0.037). We did not find rs9320913 to be associated to AD risk, although AA patients seemed to exhibit a less pronounced Mini-Mental State Exam score decline.

scholarly journals Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK

1999 ◽  
Vol 13 (3) ◽  
pp. 256-256 ◽  
Author(s):  
Mark S. Palmer ◽  
Jonathan A. Beck ◽  
Tracy A. Campbell ◽  
Christine B. Humphries ◽  
Penelope K. Roques ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease ◽  
The Uk

Assessment of health economics in Alzheimer's disease (AHEAD): treatment with galantamine in the UK

2003 ◽  
Vol 18 (8) ◽  
pp. 740-747 ◽  
Author(s):  
A. Ward ◽  
J. J. Caro ◽  
D. Getsios ◽  
K. Ishak ◽  
J. O'Brien ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Health Economics ◽  
The Uk

Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

2010 ◽  
Vol 19 (3) ◽  
pp. 873-884 ◽  
Author(s):  
Estrella Gómez-Tortosa ◽  
Sagrario Barquero ◽  
Manuel Barón ◽  
Eulogio Gil-Neciga ◽  
Fernando Castellanos ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Correlations ◽  
Presenilin 1 ◽  
Familial Alzheimer’S Disease ◽  
Clinical Genetic ◽  
Familial Alzheimer's Disease

Dementia 2. Alzheimer's disease: diagnosis, treatment and managment

2019 ◽  
Vol 13 (7) ◽  
pp. 329-335
Author(s):  
Linda Nazarko
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Clinical Features ◽  
Disease Diagnosis ◽  
Common Type ◽  
Alzheimer’S Disease Diagnosis ◽  
The Uk

In the UK, an estimated 954 000 people have dementia. Alzheimer's-type dementia (AD) is the most common type of dementia and affects around 591 480 people ( Prince et al, 2014 ). This article, the second in a series, explains about the pathophysiology and clinical features of AD, how it is diagnosed and the medication used to treat it.

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