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Home › Research › Topics › syndrome

syndrome

534 studies tagged syndrome, dated 1975-09-01 to 2026-10-30. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. Differential endothelial cell remodeling in Down syndrome and APP duplication drives distinct blood brain barrier dysfunction 2026-10-30
  2. Memory and Plasma pTau217 Refine Prognosis in Down Syndrome 2026-10-02
  3. Tau extent is associated with lower cognition in Down syndrome-related Alzheimer's disease 2026-10-01

Studies

534 studies carry this tag.

Date range

1975 to 2026

Top journals

  • Proceedings of the National Academy of Sciences of the United States of America 21
  • Alzheimer s & Dementia 20
  • Alzheimer's & dementia : the journal of the Alzheimer's Association 15
  • Neurology 14
  • Neuroscience letters 14

239 journals in all.

Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.

  1. Adapting prescribing criteria for amyloid‐targeted antibodies for adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Alzheimer s & Dementia 2024-03-13 Health systems and care delivery

    Prior authorization criteria for Federal Drug Administration (FDA) approved immunotherapeutics, among the class of anti-amyloid monoclonal antibodies (mAbs), established by state drug formulary committees, are tailored for adults with late-onset Alzheimer's disease.

  2. Down Syndrome-Basque Alzheimer Initiative (DS-BAI): Clinic-Biological Cohort

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Journal of clinical medicine 2024-02-17 Down syndrome and Alzheimer's

    Specific health plans for DS and conducting clinical and translational research on the challenges of aging, including AD, are necessary and feasible.

  3. Reduction in neurons immunoreactive for parvalbumin, calretinin and calbindin in the anteroventral thalamic nuclei of individuals with Down syndrome

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. bioRxiv 2024-02-02 Down syndrome and Alzheimer's

    The anterior thalamic nuclei are important for cognition, and memory in particular.

  4. Cerebrovascular disease drives Alzheimer plasma biomarker concentrations in adults with Down syndrome

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. medRxiv 2023-11-29 Down syndrome and Alzheimer's

    By age 40 years over 90% of adults with Down syndrome (DS) have Alzheimer’s disease (AD) pathology and most progress to dementia.

  5. Balance and Gait: Associations With Cognitive Impairment and Dementia in Individuals With Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Alzheimer disease and associated disorders 2023-10-02 Down syndrome and Alzheimer's

    Unlike other research, in this study higher body mass index was also found to increase the chance of prodromal dementia and dementia.

  6. New Horizons: Gonadotropin-Releasing Hormone and Cognition

    ✓ Peer-reviewed alzhub usefulness score 44 out of 100. The Journal of clinical endocrinology and metabolism 2023-10-01 Down syndrome and Alzheimer's

    Pulsatile secretion of gonadotropin-releasing hormone (GnRH) is essential for activating and maintaining the function of the hypothalamic-pituitary-gonadal axis, which controls the onset of puberty and fertility.

  7. Aging Exacerbates Oxidative Stress and Liver Fibrosis in an Ani-Mal Model of Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 31 out of 100. Aging 2023-09-04 Down syndrome and Alzheimer's

    Oxidative stress in DS is associated with neurodevelopmental defects, neuronal dysfunction, and the onset of dementia re-sembling Alzheimer's disease.

  8. The many "Neurofaces" of Prohibitins 1 and 2: Crucial for the healthy brain, dysregulated in numerous brain disorders

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Journal of chemical neuroanatomy 2023-07-29 Down syndrome and Alzheimer's

    Prohibitin 1 (PHB1) and prohibitin 2 (PHB2) are proteins that are nearly ubiquitously expressed.

  9. Lysosomal dysfunction in Down syndrome and Alzheimer mouse models is caused by v-ATPase inhibition by Tyr682-phosphorylated APP βCTF

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Science advances 2023-07-26 Down syndrome and Alzheimer's

    Lysosome dysfunction arises early and propels Alzheimer's disease (AD).

  10. Retromer Proteins Reduced in Down Syndrome and the Dp16 Model: Impact of APP Dose and Preclinical Studies of a γ-Secretase Modulator

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Annals of neurology 2023-04-29 Down syndrome and Alzheimer's

    Our studies point to increased APP gene dose as a compromising retromer function in DS and suggest a causal role for Aβ42 and Aβ40.

  11. Plasma NT1-tau and Aβ42correlate with age and cognitive function in two large Down syndrome cohorts

    ✓ Peer-reviewed alzhub usefulness score 49 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023-03-10 Down syndrome and Alzheimer's

    Structured Abstract Introduction People with Down syndrome (DS) often develop Alzheimer disease (AD).

  12. Reporting Down syndrome on the death certificate for Alzheimer disease/unspecified dementia deaths

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. PloS one 2023-02-13 Down syndrome and Alzheimer's

    The findings of this study highlight the importance of accurate mortality data for studying and addressing population health trends.

  13. Large-scale organoid study suggests effects of trisomy 21 on early fetal neurodevelopment are more subtle than variability between isogenic lines and experiments

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Frontiers in neuroscience 2023-02-03 Down syndrome and Alzheimer's

    This study examines cortical organoids generated from a panel of isogenic trisomic and disomic iPSC lines (subclones) as a model of early fetal brain development in Down syndrome (DS).

  14. State-of-the-art therapy for Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 42 out of 100. Developmental medicine and child neurology 2023-01-24 Down syndrome and Alzheimer's

    In the last decade, an important effort was made in the field of Down syndrome to find new interventions that improve cognition.

  15. Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study

    ✓ Peer-reviewed alzhub usefulness score 60 out of 100. The Lancet. Neurology 2023-01-01 Biomarkers

    Global PET amyloid burden was compared with regards to cognitive status, APOE ɛ4 status, sex, age, and estimated years to symptom onset.

  16. Personal social networks of people with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. American journal of medical genetics. Part A 2022-11-27 Down syndrome and Alzheimer's

    Studies in the neurotypical population have demonstrated that personal social networks can mitigate cognitive decline and the development of Alzheimer disease.

  17. Research attitudes in families of individuals with Down syndrome: importance for clinical trials

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Alzheimer's research & therapy 2022-11-23 Down syndrome and Alzheimer's

    This is one of the first formal studies to evaluate research attitudes among relatives of individuals with DS and shows the feasibility of using this approach to answer important questions that will guide trialists developing treatments for AD in DS.

  18. Therapeutics for mitochondrial dysfunction-linked diseases in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Mitochondrion 2022-11-09 Down syndrome and Alzheimer's

    Genome-wide deregulation contributes to mitochondrial dysfunction and impairment in oxidative phosphorylation (OXPHOS) mechanism resulting in oxidative stress, increased production of reactive oxygen species (ROS) and cell death in individuals with Down syndrome (DS).

  19. Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 66 out of 100. JAMA network open 2022-08-01 Down syndrome and Alzheimer's

    At baseline, there were 436 asymptomatic individuals, 69 patients with prodromal AD, and 127 with AD dementia.

  20. DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Biomedicines 2022-06-10 Biomarkers

    Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes.

  21. Lysosomal dysfunction in Down Syndrome and Alzheimer mouse models is caused by selective v-ATPase inhibition by Tyr 682 phosphorylated APP βCTF

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Science advances 2022-06-04 Down syndrome and Alzheimer's

    Lysosome dysfunction arises early and propels Alzheimer’s Disease (AD).

  22. Safety, Tolerability, and Immunogenicity of the ACI-24 Vaccine in Adults With Down Syndrome: A Phase 1b Randomized Clinical Trial

    ✓ Peer-reviewed alzhub usefulness score 71 out of 100. JAMA neurology 2022-06-01 Treatments

    Among 16 enrolled participants, the mean (SD) age was 32.6 (4.4) years; 9 participants were women, and 7 were men.

  23. Modeling Down syndrome neurodevelopment with isogenic cerebral organoids

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. bioRxiv 2022-05-26 Down syndrome and Alzheimer's

    As a model of early fetal brain development in Down syndrome, this study examines cortical organoids generated from isogenic trisomic and disomic iPSC lines.

  24. Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 78 out of 100. JAMA network open 2022-05-02 Disparities

    The variability in disease onset was compared with that of autosomal dominant Alzheimer disease.

  25. Beyond amyloid: Immune, cerebrovascular, and metabolic contributions to Alzheimer disease in people with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Neuron 2022-04-25 Down syndrome and Alzheimer's

    People with Down syndrome (DS) have increased risk of Alzheimer disease (AD), presumably conferred through genetic predispositions arising from trisomy 21.

  26. Serum Beta-Synuclein Is Higher in Down Syndrome and Precedes Rise of pTau181

    ✓ Peer-reviewed alzhub usefulness score 56 out of 100. Annals of neurology 2022-04-12 Down syndrome and Alzheimer's

    This exploratory case-control study investigates the synaptic marker beta-synuclein in serum and plasma pTau181 in adults with Down syndrome (DS) with (sDS, n = 14) and without (aDS, n = 47) clinical symptoms of Alzheimer disease (AD) as well as euploid controls (n = 23).

  27. [Diagnosing Alzheimer Dementia in People with Down Syndrome in Accordance with ICD, DSM V and A/T/N System]

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Fortschritte der Neurologie-Psychiatrie 2022-03-23 Down syndrome and Alzheimer's

    Due to a triplication of the amyloid precursor protein (APP) gene on chromosome 21, most people with Down's Syndrome (DS) are at high risk of developing an Alzheimer type of dementia associated with Down's Syndrome (DS-AD).

  28. Novel SNX13 Frameshift Variant in an Individual with Developmental Delay

    ✓ Peer-reviewed alzhub usefulness score 32 out of 100. Cytogenetic and genome research 2021-12-08 Down syndrome and Alzheimer's

    Recently, an increasing number of genes have been associated with global developmental delay (GDD) and intellectual disability (ID).

  29. Aberrant crosstalk between insulin signaling and mTOR in young Down syndrome individuals revealed by neuronal-derived extracellular vesicles

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021-11-23 Down syndrome and Alzheimer's

    The alteration of the insulin-signaling/mTOR pathways represents an early event in DS brain and likely contributes to the cerebral dysfunction and intellectual disability observed in this unique population.

  30. Alzheimer's disease associated with Down syndrome: a genetic form of dementia

    ✓ Peer-reviewed alzhub usefulness score 59 out of 100. The Lancet. Neurology 2021-11-01 Prevention and risk

    Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer's disease and are at very high risk of developing early-onset dementia, which is now the leading cause of death in this population.

  31. Association between Hypothyroidism Onset and Alzheimer Disease Onset in Adults with Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 46 out of 100. Brain sciences 2021-09-16 Down syndrome and Alzheimer's

    Adults with Down syndrome (DS) have an exceptionally high frequency of Alzheimer disease (AD) with a wide variability in onset, from 40 to 70 years of age.

  32. Metabolite Signature of Alzheimer's Disease in Adults with Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 51 out of 100. Annals of neurology 2021-08-06 Biomarkers

    Magnetic resonance spectroscopy detects Alzheimer's disease related inflammation and neurodegeneration, and could be a good noninvasive disease-stage biomarker in Down syndrome.

  33. Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 64 out of 100. JAMA neurology 2021-08-01 Biomarkers

    Previous studies have suggested that the APOE ɛ4 allele plays a role in the risk and age at onset of dementia in DS; however, data on in vivo biomarkers remain scarce.

  34. Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study

    ✓ Peer-reviewed alzhub usefulness score 62 out of 100. The Lancet. Neurology 2021-08-01 Biomarkers

    Due to trisomy of chromosome 21 and the resultant extra copy of the amyloid precursor protein gene, nearly all adults with Down syndrome develop Alzheimer's disease pathology by the age of 40 years and are at high risk for dementia given their increased life expectancy compared with adults with Down syndrome in the past.

  35. Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity

    ✓ Peer-reviewed alzhub usefulness score 37 out of 100. PloS one 2021-07-20 Down syndrome and Alzheimer's

    In humans, GART [phosphoribosylglycinamide formyltransferase (EC 2.1.2.2) / phosphoribosylglycinamide synthetase (EC 6.3.4.13) / phosphoribosylaminoimidazole synthetase (EC 6.3.3.1)] is a trifunctional protein which catalyzes the second, third, and fifth reactions of the ten step de novo purine synthesis (DNPS) pathway.

  36. Association between Inflammatory Conditions and Alzheimer's Disease Age of Onset in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 47 out of 100. Journal of clinical medicine 2021-07-15 Down syndrome and Alzheimer's

    Adults with Down syndrome (DS) have an exceptionally high prevalence of Alzheimer disease (AD), with an earlier age of onset compared with the neurotypical population.

  37. VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 46 out of 100. Alzheimer's research & therapy 2021-06-28 Down syndrome and Alzheimer's

    There is an urgent need for objective markers of Alzheimer's disease (AD)-related cognitive impairment in people with Down syndrome (DS) to improve diagnosis, monitor disease progression, and assess response to disease-modifying therapies.

  38. VAMP-2 Is a Surrogate Cerebrospinal Fluid Marker of Alzheimer-related Cognitive Impairment in Adults With Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Alzheimer's research & therapy 2021-03-23 Down syndrome and Alzheimer's

    There is an urgent need for objective markers of Alzheimer’s disease (AD)-related cognitive impairment in people with Down syndrome (DS) to improve diagnosis, monitor disease progression and assess response to disease-modifying therapies.

  39. Normal levels of KIF5 but reduced KLC1 levels in both Alzheimer disease and Alzheimer disease in Down syndrome: evidence suggesting defects in anterograde transport

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Alzheimer's research & therapy 2021-03-10 Down syndrome and Alzheimer's

    These data point to significant reductions in KLC1 in AD and AD-DS.

  40. Endosome Dysregulation in Down Syndrome: A Potential Contributor to Alzheimer Disease Pathology

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Annals of neurology 2021-02-25 Down syndrome and Alzheimer's

    Intracellular protein trafficking via the endosomes plays a key role in the maintenance of normal neuronal function.

  41. Insulin resistance, oxidative stress and mitochondrial defects in Ts65dn mice brain: A harmful synergistic path in down syndrome

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Free radical biology & medicine 2021-01-29 Down syndrome and Alzheimer's

    Dysregulation of brain insulin signaling with reduced downstream neuronal survival and plasticity mechanisms are fundamental abnormalities observed in Alzheimer disease (AD).

  42. Alzheimer-related altered white matter microstructural integrity in Down syndrome: A model for sporadic AD?

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Alzheimer's & dementia (Amsterdam, Netherlands) 2020-11-07 Down syndrome and Alzheimer's

    Our findings suggest that quantification of WM changes in DS could provide a promising and clinically relevant biomarker for AD clinical onset and progression.

  43. Regional binding of tau and amyloid PET tracers in Down Syndrome autopsy brain tissue

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. Molecular neurodegeneration 2020-10-23 Down syndrome and Alzheimer's

    Tau pathology is a major age-related event in Down syndrome with Alzheimer’s disease (DS-AD).

  44. Alzheimer-Related Cerebrovascular Disease in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 58 out of 100. Annals of neurology 2020-10-09 Brain scans and imaging

    There were detectable WMH, enlarged PVS, infarcts, and microbleeds as early as the 5th decade of life.

  45. Medical Care of Adults With Down Syndrome: A Clinical Guideline

    ✓ Peer-reviewed alzhub usefulness score 59 out of 100. JAMA 2020-10-01 Prevention and risk

    From 11 295 literature citations associated with 10 PICO questions, 20 relevant studies were identified.

  46. Signalling Pathways Implicated in Alzheimer's Disease Neurodegeneration in Individuals with and without Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. International journal of molecular sciences 2020-09-20 Down syndrome and Alzheimer's

    Down syndrome (DS), the most common cause of intellectual disability of genetic origin, is characterized by alterations in central nervous system morphology and function that appear from early prenatal stages.

  47. Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. JAMA network open 2020-09-01 Down syndrome and Alzheimer's

    The ε4 allele of the apolipoprotein E gene (APOE ε4) is associated with an additional risk for AD.

  48. The BACH1/Nrf2 Axis in Brain in Down Syndrome and Transition to Alzheimer Disease-Like Neuropathology and Dementia

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Antioxidants (Basel, Switzerland) 2020-08-21 Down syndrome and Alzheimer's

    Down syndrome (DS) is the most common genetic cause of intellectual disability that is associated with an increased risk to develop early-onset Alzheimer-like dementia (AD).

  49. Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer's disease-related inhibitory circuit dysfunction in adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 53 out of 100. Molecular neurodegeneration 2020-08-17 Down syndrome and Alzheimer's

    Compared to controls, mean CSF NPTX2 levels were lower in DS at all AD stages; aDS (0.6-fold, adj.p 0.07).

  50. Erythrocytes as markers of oxidative stress related pathologies

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Mechanisms of ageing and development 2020-08-16 Down syndrome and Alzheimer's

    Erythrocytes are deeply sensitive cells and important health indicators.

From across this tag

8 of the 527 studies in this tag, picked by a fixed rule (a hash of each study's address), not by score or date; each page of this list shows a different 8. The same 8 appear here every time.

All topic tags with their study counts