1,206 results match your criteria: "Gertrude H. Sergievsky Center[Affiliation]"

Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.

Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).

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Background: Impaired intrauterine growth, a significant global health problem, contributes to a higher burden of infant morbidity and mortality, mainly in resource-poor settings. Maternal anemia and undernutrition, two important causes of impaired intrauterine growth, are prioritized by global nutrition targets of 2030. We synthesized the evidence on the role of preconception nutrition supplements in reducing maternal anemia and improving intrauterine growth.

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Genetic predisposition to high circulating levels of interleukin 6 and risk for Alzheimer's disease. Discovery and replication.

J Prev Alzheimers Dis

January 2025

1st Department of Neurology, Aiginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece; Department of Neurology, The Gertrude H. Sergievsky Center, Taub Institute for Research in Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA. Electronic address:

Importance: Aging is accompanied by immune dysregulation, which has been implicated in Alzheimer's disease (AD) pathogenesis. Individuals who are genetically predisposed to elevated levels of proinflammatory mediators might be at increased risk for AD.

Objective: To investigate whether genetic propensity for higher circulating levels of interleukin 6 (IL-6) is associated with AD risk.

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Am J Hum Genet

January 2025

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

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Neurodegenerative tauopathies are characterized by the deposition of distinct fibrillar tau assemblies, whose rigid core structures correlate with defined neuropathological phenotypes. Essential tremor (ET) is a progressive neurological disorder that, in some cases, is associated with cognitive impairment and tau accumulation. In this study, we explored tau assembly conformation in ET patients with tau pathology using cytometry-based tau biosensor assays.

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Introduction: The (IDEAL) Study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of apolipoprotein E () genotype disclosure for late-onset Alzheimer's disease (AD) among Latinos.

Methods: We used address-based sampling to recruit English- and Spanish-speaking Latinos aged 40-64 living in northern Manhattan for a community-based Baseline Survey about their knowledge and opinions about AD. Participants eligible for the clinical trial were invited to complete an Introductory Session, including AD and genetics education and informed consent, before undergoing genotyping for .

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Plasma phospho-tau217 as a predictive biomarker for Alzheimer's disease in a large south American cohort.

Alzheimers Res Ther

January 2025

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY, 10032, USA.

Article Synopsis
  • Blood-based biomarkers like p-tau217 are being studied for their effectiveness in diagnosing Alzheimer's disease (AD), but previous research has mainly focused on non-Hispanic White populations, leading to a knowledge gap across different ethnic backgrounds.
  • A new study involving Peruvians, including mestizos and indigenous groups, examined plasma p-tau217 in 525 individuals, revealing significant associations between the biomarker and AD, especially in those with the APOE-e4 allele, although it did not distinguish between healthy controls and mild cognitive impairment (MCI).
  • The results indicated that p-tau217 levels correlated well with cognitive performance and had an impressive classification performance (ROC-AUC of 82.82%), marking a significant contribution to understanding AD in diverse
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Alzheimer's disease (AD) is a debilitating neurodegenerative illness that has become a growing concern for older adults. As such, apolipoprotein E (APOE) genetic testing has become more commonly used to identify individuals' susceptibility to AD. An underrepresented population in AD research, Latinos will be disproportionately affected by AD in the coming decades.

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Introduction: Adjustable lifestyle factors, such as diet, are associated with cognitive functions, structural and functional brain measures, but the association between the functional connectivity (FC) and the Mediterranean Diet (Medicine) in population without dementia is yet to be explored.

Methods: The association between MeDi and brain FC in 105 individuals without dementia aged 63 (SD ± 8.72) years old who underwent brain MRI including resting-state (rs) functional MRI (fMRI) was examined.

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Network-based amyloid-β pathology predicts subsequent cognitive decline in cognitively normal older adults.

bioRxiv

December 2024

Cognitive Neuroscience Division, Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

The deposition of amyloid-β (Aβ) protein in the human brain is a hallmark of Alzheimer's disease and is related to cognitive decline. However, the relationship between early Aβ deposition and future cognitive impairment remains poorly understood, particularly concerning its spatial distribution and network-level effects. Here, we employed a cross-validated machine learning approach and investigated whether integrating subject-specific brain connectome information with Aβ burden measures improves predictive validity for subsequent cognitive decline.

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THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

BMC Med Genomics

December 2024

Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA.

Background: Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NSHI).

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Early life exposure to structural sexism and late-life memory trajectories among black and white women and men in the United States.

Alzheimers Dement

December 2024

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Introduction: We investigated whether early life exposure to state-level structural sexism influenced late-life memory trajectories among United Staes (U.S.) -born women and men and determined whether associations differed between racialized groups.

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The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched cognitive controls from diverse populations. The Genome Center for Alzheimer's Disease (GCAD) processed whole-genome sequencing data from 36,361 ADSP participants, including 35,014 genetically unique participants of which 45% are from non-European ancestry, across 17 cohorts in 14 countries in this fourth release (R4). This sequencing effort identified 387 million bi-allelic variants, 42 million short insertions/deletions, and 2.

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GWAS highlights the neuronal contribution to multiple sclerosis susceptibility.

medRxiv

December 2024

Center for Translational and Computational Neuroimmunology & Columbia Multiple Sclerosis Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.

Multiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative disease affecting the brain and spinal cord. Genetic studies have identified many risk loci, that were thought to primarily impact immune cells and microglia. Here, we performed a multi-ancestry genome-wide association study with 20,831 MS and 729,220 control participants, identifying 236 susceptibility variants outside the Major Histocompatibility Complex, including four novel loci.

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Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

HGG Adv

January 2025

Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:

Article Synopsis
  • *This study focused on the genetic causes of HI in the Malian population through whole exome sequencing, uncovering variants in multiple known HI genes and identifying a novel candidate gene, UBFD1.
  • *Results showed that 75% of the examined families had identifiable causes for HI, with many variants being newly identified and a case of digenic inheritance observed.
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X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Article Synopsis
  • The study investigates how Alzheimer's disease (AD) biomarkers relate to cognitive performance as measured by the NIHTB-CB in late middle-aged Hispanic individuals.
  • Lower cortical thickness (CT) and the presence of infarcts were linked to poorer performance in reading recognition and overall cognition scores, while higher white matter hyperintensities (WMH) also negatively impacted processing speed.
  • Interestingly, amyloid and tau levels, often associated with AD, showed no correlation with cognitive test performance, prompting further research to see if AD affects NIHTB-CB results over time.
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Objective: Being married may protect late-life cognition. Less is known about living arrangement among unmarried adults and mechanisms such as brain health (BH) and cognitive reserve (CR) across race and ethnicity or sex/gender. The current study examines (1) associations between marital status, BH, and CR among diverse older adults and (2) whether one's living arrangement is linked to BH and CR among unmarried adults.

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Importance: Several psychiatric disorders have been found to occur more frequently in persons with epilepsy (PWE) than in persons without epilepsy.

Objective: To summarize the prevalence of 20 psychiatric disorders in PWE compared with persons without epilepsy.

Data Sources: The search included records from inception to February 2024 in Ovid, MEDLINE, Embase, and PsycINFO.

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Estimating dementia prevalence using remote diagnoses and algorithmic modelling: a population-based study of a rural region in South Africa.

Lancet Glob Health

December 2024

Harvard Center for Population and Development Studies, Harvard University, Cambridge, MA, USA; Department of Social and Behavioral Sciences, Harvard T H Chan School of Public Health, Harvard University, Cambridge, MA, USA; MRC/Wits Rural Public Health and Health Transitions Research Unit (Agincourt), School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Background: Dementia is a leading cause of global death and disability. High-quality data describing dementia prevalence and burden remain scarce in sub-Saharan Africa. Health and Aging in Africa: A Longitudinal Study in South Africa (HAALSI) fills evidence gaps with longitudinal data on cognition, biomarkers, and everyday function in a population-based cohort of Black South Africans, aged 40 years and older, in a rural subdistrict.

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Diets to promote healthy brain ageing.

Nat Rev Neurol

January 2025

1st Department of Neurology, Aiginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.

Diet is a modifiable lifestyle factor with a proven role in cardiovascular disease risk reduction that might also play an important part in cognitive health. Evidence from observational studies has linked certain healthy dietary patterns to cognitive benefits. However, clinical trials of diet interventions have demonstrated either null or, at best, small effects on cognitive outcomes.

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Article Synopsis
  • The Global Burden of Disease Study (GBD) provides estimates for prevalence of idiopathic and secondary epilepsy but lacks detailed prevalence by the specific underlying causes of secondary epilepsy.
  • Using demographic data from Denmark, researchers identified causes of epilepsy to compare local prevalence rates with GBD 2019 data, analyzing hospital diagnoses and prescription records from 2009 to 2018.
  • Results showed that Denmark has a total epilepsy prevalence of 697 per 100,000, with significant underlying causes for secondary epilepsy including perinatal conditions, traumatic brain injury, brain tumors, and stroke, suggesting a need for future studies to address all forms of epilepsy more comprehensively.
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A neural implementation of cognitive reserve: Insights from a longitudinal fMRI study of set-switching in aging.

Neurobiol Aging

January 2025

Cognitive Neuroscience Division, Department of Neurology, Columbia University, New York, NY, United States; Gertrude H. Sergievsky Center, Columbia University, New York, NY, United States; Taub Institute for Research in Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, United States. Electronic address:

Aging is often accompanied by changes in brain structure and executive functions, particularly in tasks involving cognitive flexibility, such as task-switching. However, substantial individual differences in the degree of cognitive impairment indicate that some individuals can cope with brain changes more effectively than others, suggesting higher cognitive reserve (CR). This study identified a neural basis for CR by examining the longitudinal relationship between task-related brain activation, structural brain changes, and changes in cognitive performance during an executive task-switching paradigm including single and dual conditions.

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In this work our aim was to identify early biomarkers in plasma samples associated with mortality in children with perinatal HIV treated early in life, to potentially inform early intervention targeting this vulnerable group. 20/215 children (9.3%) with perinatal HIV, enrolled within 3 months of age died prematurely within the first year of the study, despite early ART initiation.

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