We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of heterozygosity, because it could not reduce the risk below 12%. However, in a population with a prior risk of only 2%, it discriminates the 3% with a 19% risk from the 97% with a risk of 1.5% or less. This simple method could usefully be applied to such a population, in order to select those at higher risk for further investigation using molecular genetics.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00711323 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Background: Availability of amyloid modifying therapies will dramatically increase the need for disclosure of Alzheimer's disease (AD) related genetic and/or biomarker test results. The 21st Century Cares Act requires the immediate return of most medical test results, including AD biomarkers. A shortage of genetic counselors and dementia specialists already exists, thus driving the need for scalable methods to responsibly communicate test results.
View Article and Find Full Text PDFBackground: Progranulin (PGRN), a glycoprotein secreted by microglia and neurons, regulates lysosomal function, neuroinflammation, and has neurotrophic effects. Variants in the granulin gene (GRN) that cause a reduction of PGRN in plasma and cerebrospinal fluid (CSF) are associated with an increased risk of Alzheimer's disease (AD). The sortilin receptor (SORT1) on neurons and microglia regulates PGRN degradation.
View Article and Find Full Text PDFDementia Care Research and Psychosocial Factors.
Alzheimers Dement
December 2024
Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV, USA.
Background: Prior research has demonstrated the positive association between social support and cognition. Specifically, greater social support has been linked with improved cognitive performance and reduced risk of dementia. In particular, emotional support has been identified as a key dimension in the relationship between social support and cognition.
View Article and Find Full Text PDFDrug Development.
Alzheimers Dement
December 2024
National Hospital for Neurology and Neurosurgery, University College London, London, London, United Kingdom.
Anti-amyloid therapies are ideal candidates for prevention trials. Secondary prevention in those at risk of ADAD (DIAN-TU) has shown reduction of brain amyloid deposition leads to significant downstream biological change; early secondary prevention using a monoclonal antibody in sporadic AD (AHEAD 3-45) is ongoing and will provide critical information on whether treating earlier leads to greater clinical benefit. However, this is not preventing disease but delaying onset in those with presymptomatic disease.
View Article and Find Full Text PDFDementia Care Research and Psychosocial Factors.
Alzheimers Dement
December 2024
Emory University, Atlanta, GA, USA.
Background: Black/African American adults (B/AAs) are 64% more likely to develop Alzheimer's disease (AD) than non-Hispanic White adults (NHWs), and risk factors, including non-biological determinants, are not fully delineated. Social determinants of health, such as socioeconomic status and lifetime discrimination, are associated with cognitive decline and increased AD risk. The purpose of this study is to examine the relationships of a perceived discrimination measure with sociodemographic characteristics and cognitive function in a racially diverse cohort of middle-aged adults with a parental history of AD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!