Publications by authors named "Hofer E"

Background: White matter hyperintensities (WMH) have been implicated in the pathogenesis of neuropsychiatric symptoms of dementia but the functional significance of WMH in specific white matter (WM) tracts is unclear. We investigate whether WMH burden within major WM fibre classes and individual WM tracts are differentially associated with different neuropsychiatric syndromes in a large multicentre study.

Method: Neuroimaging and neuropsychiatric data of seven memory clinic cohorts through the Meta VCI Map consortium were harmonised.

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  • - White matter hyperintensities indicate damage in the brain's white matter, which can lead to brain shrinkage and is linked to dementia; a study of over 51,000 people found that larger volumes of these hyperintensities correspond to thinner brain cortex.
  • - Researchers identified 20 significant genetic loci related to white matter hyperintensities that affect genes involved in brain cell types known to support vascular health and neuronal function; some of these genes play roles in processes like axonal structure and transport within the brain.
  • - The genetic traits tied to white matter issues were linked to cardiovascular health, neurodegeneration markers, and poorer cognitive performance, with a polygenic risk score effectively predicting dementia risk in a separate large
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Background: Promising evidence supports the effectiveness of edutainment interventions in shifting norms to prevent violence against women and girls and other harmful practices, yet further research into mechanisms and pathways of impact is needed to inform intervention development, delivery and scale-up. This exploratory qualitative evaluation examined the feasibility and indications of change in attitudes, beliefs, norms and behaviours following the broadcast of a radio drama aired to prevent age-disparate transactional sex in Kigoma, Tanzania.

Methods: Over seven weeks, six episodes were broadcast on local radio weekly, between November and December 2021 in Kigoma, targeting adolescent girls (aged 13-15 years) and their caregivers.

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  • Subcortical brain structures play a crucial role in various developmental and psychiatric disorders, and a study analyzed brain volumes in 74,898 individuals, identifying 254 genetic loci linked to these volumes, which accounted for up to 35% of variation.
  • The research included exploring gene expression in specific neural cell types, focusing on genes involved in intracellular signaling and processes related to brain aging.
  • The findings suggest that certain genetic variants not only influence brain volume but also have potential causal links to conditions like Parkinson’s disease and ADHD, highlighting the genetic basis for risks associated with neuropsychiatric disorders.
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  • White matter hyperintensities (WMH) are linked to cognitive impairment but solely measuring their volume doesn't fully explain the cognitive deficits.
  • Lesion network mapping (LNM) offers a new way to assess how WMH connects with brain networks, potentially improving our understanding of their impact on cognition.
  • In a study of 3,485 patients, LNM scores outperformed WMH volumes in predicting cognitive performance, especially in attention, processing speed, and verbal memory, but not for language functions.
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  • Subcortical brain structures play a crucial role in various disorders, and a study analyzed the genetic basis of brain volumes in nearly 75,000 individuals of European ancestry, revealing 254 loci linked to these volumes.
  • The research identified significant gene expression in neural cells, relating to brain aging and signaling, and found that polygenic scores could predict brain volumes across different ancestries.
  • The study highlights genetic connections between brain volumes and conditions like Parkinson's disease and ADHD, suggesting specific gene expression patterns could be involved in neuropsychiatric disorders.
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  • Neurofilament light chain (NfL) levels serve as a key biomarker for neuro-axonal damage in neurodegenerative disorders, and understanding the genetics behind these levels can reveal important molecular mechanisms.
  • A meta-analysis of genome-wide association studies identified significant genetic loci associated with blood NfL levels in both European and African American populations, highlighting two key regions.
  • The study also indicated that a higher polygenic risk score for NfL correlates with increased levels of other neurodegenerative biomarkers and suggests lower kidney function may lead to elevated NfL levels in the blood.
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  • * The research showed that individuals with high polygenic risk scores have significantly higher blood pressure (almost 17 mmHg more) and over seven times the risk of developing hypertension compared to those with low scores.
  • * Incorporating these genetic risk scores into hypertension prediction models improved their accuracy, and excitingly, similar genetic associations were found in a large African-American sample, underscoring the potential of these findings for precision health initiatives.
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Introduction: White matter hyperintensities of presumed vascular origin (WMH) are associated with cognitive impairment and are a key imaging marker in evaluating cognitive health. However, WMH volume alone does not fully account for the extent of cognitive deficits and the mechanisms linking WMH to these deficits remain unclear. We propose that lesion network mapping (LNM), enables to infer if brain networks are connected to lesions, and could be a promising technique for enhancing our understanding of the role of WMH in cognitive disorders.

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Background And Hypothesis: It remains unclear whether the relation of chronic kidney disease (CKD) with cognitive dysfunction is independent of blood pressure (BP). We evaluated kidney function in relation to premorbid BP measurements, cerebral small vessel disease (CSVD), and incident mild cognitive impairment (MCI) and dementia in Framingham Offspring Cohort participants.

Methods: We included Framingham Offspring participants free of dementia, attending an examination during midlife (exam cycle 6, baseline) for ascertainment of kidney function status, with brain magnetic resonance imaging late in life (exam cycles 7-9), cognitive outcome data, and available interim hypertension and BP assessments.

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  • White matter hyperintensities (WMH) correlate with major dementia causes, particularly arteriolosclerosis and amyloid pathology; the study aimed to pinpoint specific WMH locations linked to vascular risk and amyloid-β (Aβ42) status.* -
  • Data from 3,132 patients were analyzed, revealing that vascular risk was associated with WMH in the anterior/superior corona radiata and middle cerebellar peduncle, while Aβ42 positivity linked to WMH in the posterior thalamic radiation and splenium.* -
  • The findings suggest WMH patterns differ between vascular risk factors and Aβ42 pathology, indicating the need for further research on how these factors impact white matter
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  • Cerebral white matter hyperintensities (WMH) have been linked to early signs of heart issues, particularly coronary artery calcification (CAC), but previous research mostly looked at data from just one point in time.
  • This study specifically examined the relationship between WMH and CAC in older adults, analyzing data at the start and again after 6 years among participants who were initially stroke- and dementia-free.
  • Results showed that while initial CAC levels didn't predict WMH growth, higher WMH volume at the beginning was an indicator of increased CAC over time, particularly in those with severe WMH, suggesting that monitoring heart health could be important for these individuals.
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Introduction: The spatial distribution of white matter hyperintensities (WMH) on MRI is often considered in the diagnostic evaluation of patients with cognitive problems. In some patients, clinicians may classify WMH patterns as "unusual", but this is largely based on expert opinion, because detailed quantitative information about WMH distribution frequencies in a memory clinic setting is lacking. Here we report voxel wise 3D WMH distribution frequencies in a large multicenter dataset and also aimed to identify individuals with unusual WMH patterns.

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  • This study investigates serum neurofilament light chain protein (sNfL) levels in patients with essential tremor to explore its potential link to neurodegeneration, comparing it with healthy controls over time.
  • Using data from a movement disorders registry, researchers found that patients with essential tremor had significantly higher sNfL levels than controls, which increased over the five-year follow-up period.
  • The results suggest that early neurodegeneration may be involved in essential tremor, as greater increases in sNfL were associated with worsening tremor and cognitive issues in patients with a shorter disease duration.
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Tularemia is increasing in Austria. We report Francisella tularensis subspecies holarctica isolated from 3 patients who had been bitten by arthropods. Next-generation sequencing showed substantial isolate similarity.

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Coronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). Identifying genetic risk factors for CAC may point to new therapeutic avenues for prevention. Currently, there are only four known risk loci for CAC identified from genome-wide association studies (GWAS) in the general population.

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  • The study investigates how arterial stiffness, measured by pulse wave velocity (PWV), relates to brain health and cognitive function in older adults living in the community.
  • Findings indicate that higher PWV is linked to decreased total brain volume, especially during nighttime, and this relationship exists independently of blood pressure levels.
  • However, the research did not find significant connections between PWV and markers of cerebral small vessel disease or cognitive impairment.
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Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.

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Introduction: The measurement of neurofilament light chain (NfL) in blood is a promising biomarker of neurological injury and disease. We investigated the genetic factors that underlie serum NfL levels (sNfL) of individuals without neurological conditions.

Methods: We performed a discovery genome-wide association study (GWAS) of sNfL in participants of the German BiDirect Study ( = 1,899).

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Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.

Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches.

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Introduction: Impact of white matter hyperintensities (WMH) on cognition likely depends on lesion location, but a comprehensive map of strategic locations is lacking. We aimed to identify these locations in a large multicenter study.

Methods: Individual patient data (n = 3525) from 11 memory clinic cohorts were harmonized.

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  • Common SNPs may account for 40-50% of human height variation, and this study identifies 12,111 SNPs linked to height from a large sample of 5.4 million individuals.
  • These SNPs cluster in 7,209 genomic segments, encompassing about 21% of the genome and showing varying densities enriched in relevant genes.
  • While these SNPs explain a substantial portion of height variance in European populations (40-45%), their predictive power is lower (10-24%) in other ancestries, suggesting a need for more research to enhance understanding in diverse populations.
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Background: While iron is essential for normal brain functioning, elevated concentrations are commonly found in neurodegenerative diseases and are associated with impaired cognition and neurological deficits. Currently, only little is known about genetic and environmental factors that influence brain iron concentrations.

Methods: Heritability and bivariate heritability of regional brain iron concentrations, assessed by R2* relaxometry at 3 Tesla MRI, were estimated with variance components models in 130 middle-aged to elderly participants of the Austrian Stroke Prevention Family Study.

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  • Researchers studied the genetic connections to blood fats using data from 1.6 million people from different backgrounds to understand why certain fats are higher or lower in the body.
  • They looked at special genes and how they interact in the liver and fat cells, finding that the liver plays a big part in controlling fat levels.
  • Two specific genes, CREBRF and RRBP1, were highlighted as important in understanding how our bodies manage fats due to strong supporting evidence.
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