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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. Comparative localization of ADAMs 10 and 15 in human cerebral cortex normal aging, Alzheimer disease and Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Journal of neurocytology 2003-02-01 Down syndrome and Alzheimer's

    Using immunohistochemical techniques we studied the light microscopic localization of ADAMs (A Disintegrin And Metalloprotease) 10 and 15 in different neocortical areas of the human brain during normal aging, and also in patients with Alzheimer disease (AD) and Down syndrome (DS).

  2. Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Journal of neural transmission. Supplementum 2003-01-01 Down syndrome and Alzheimer's

    Trisomy 21 (Down syndrome, DS) is the most common genetic cause of mental retardation, resulting from triplication of the whole or distal part of human chromosome 21.

  3. Lens defects and age-related fiber cell degeneration in a mouse model of increased AbetaPP gene dosage in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. The American journal of pathology 2002-12-01 Down syndrome and Alzheimer's

    Early-onset cataract and Alzheimer's disease occur with high frequency in Down syndrome (trisomy 21), the most common chromosome duplication in human live births.

  4. A pilot study of the reliability and validity of the Caregiver Activity Survey - Intellectual Disability (CAS-ID)

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. Journal of intellectual disability research : JIDR 2002-11-01 Down syndrome and Alzheimer's

    The present authors provide preliminary evidence for the validity and reliability of the CAS-ID.

  5. Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. Archives of medical research 2002-09-01 Down syndrome and Alzheimer's

    Frequency of two mutations associated with ASA pseudodeficiency in the Croatian population is slightly below the range reported for other populations.

  6. Down syndrome and Alzheimer disease: response to donepezil

    ✓ Peer-reviewed alzhub usefulness score 42 out of 100. Archives of neurology 2002-07-01 Down syndrome and Alzheimer's

    Acetylcholinesterase inhibitors may be helpful in reversing the symptoms of dementia during early and middle stages of cognitive decline.

  7. Human brain nascent polypeptide-associated complex alpha subunit is decreased in patients with Alzheimer' s disease and Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 32 out of 100. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2002-07-01 Down syndrome and Alzheimer's

    Nascent polypeptide-associated complex (NAC) protein, a heterodimeric complex of alpha- and beta-subunits, prevents mistargeting of nascent polypeptide chains to the endoplasmic reticulum membranes. alpha-NAC has sequence similarities with transcription-regulating proteins and has been reported to function as a transcriptional coactivator potentiating c-Jun-mediated transcription.

  8. Elevated expression of beta-site amyloid precursor protein cleaving enzyme 2 in brains of patients with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Neuroscience letters 2002-06-01 Down syndrome and Alzheimer's

    The gene encoding the beta-site amyloid precursor protein cleaving enzyme 2 (BACE2) has been determined to be located on the long arm of chromosome 21 at 21q22.3.

  9. Inositol monophosphatase activity in normal, Down syndrome and dementia of the Alzheimer type CSF

    ✓ Peer-reviewed alzhub usefulness score 31 out of 100. Neurobiology of aging 2002-05-01 Down syndrome and Alzheimer's

    Inositol monophosphatase (IMPase), a cytoplasmic enzyme that hydrolyses inositol monophosphates to produce inositol is also found in the cerebrospinal fluid (CSF).

  10. Cytonectin expression in Alzheimer disease

    ✓ Peer-reviewed alzhub usefulness score 27 out of 100. Journal of neuropathology and experimental neurology 2002-03-01 Down syndrome and Alzheimer's

    Cytonectin is a novel 35,000 molecular weight protein that displays remarkable ion-independent adherence properties.

  11. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

    ✓ Peer-reviewed alzhub usefulness score 61 out of 100. Lancet (London, England) 2002-03-01 Getting a diagnosis

    Reduced exposure to environmental factors that contribute to cancer risk, tumour-suppressor genes on chromosome 21, or a slower rate of replication or higher likelihood of apoptosis in Down's syndrome cells, could be possible reasons for paucity of cancer in people with Down's syndrome.

  12. Protein expression in Down syndrome brain

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Amino acids 2001-12-01 Down syndrome and Alzheimer's

    Down syndrome (DS) is the most common chromosomal abnormality associated with early mental retardation and neurological abnormalities followed by precocious age dependent Alzheimer-type neurode generation later in life.

  13. Vascular fibrosis and calcification in the hippocampus in aging, Alzheimer disease, and Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Acta neuropathologica 2001-11-28 Down syndrome and Alzheimer's

    Study of the hippocampal formation of 82 subjects, including 25 control subjects from 33 to 83 years of age, 34 subjects with Alzheimer disease (AD) from 65 to 89 years of age, and 23 subjects with Down syndrome (DS) from 33 to 72 years of age, revealed hippocampal vasculopathy with fibrosis and calcification (VFC) in 40% of control, 59% of AD, and 4% of DS subjects.

  14. Functional genomics of the Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 29 out of 100. Croatian medical journal 2001-08-01 Down syndrome and Alzheimer's

    Down syndrome, as a phenotypic result of trisomy 21, is a complex condition with a set of over 30 phenotypic features, which manifest themselves with varying frequencies among affected individuals.

  15. Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Neuroscience letters 2001-06-01 Down syndrome and Alzheimer's

    We evaluated the allele (and genotype frequencies in 60 Down syndrome (DS), 25 mothers and 57 controls from Sicily and its relation with mental retardation.

  16. Evidence for apoptosis in the fetal Down syndrome brain

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Journal of child neurology 2001-06-01 Down syndrome and Alzheimer's

    In Down syndrome, enhanced apoptosis (programmed cell death) may play a role in the pathogenesis of characteristic early mental retardation and precocious neurodegeneration of Alzheimer type.

  17. Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Neurology 2001-04-01 Hippocampus size on brain scans

    The objective of this study was to use high-resolution MRI techniques to determine whether children with Down syndrome exhibit decreases in hippocampal and amygdala volumes similar to those demonstrated in recent studies of adults with this condition.

  18. Intraneuronal abeta-amyloid precedes development of amyloid plaques in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 51 out of 100. Archives of pathology & laboratory medicine 2001-04-01 Down syndrome and Alzheimer's

    We propose the following sequence of events in the development of neuropathologic changes of Alzheimer disease in Down syndrome: (1) intracellular accumulation of Abeta in neurons and astrocytes, (2) deposition of extracellular Abeta and formation of diffuse plaques, and (3) development of neuritic plaques and neurofibrillary tangles with activation of microglial cells.

  19. Alzheimer dementia in Down's syndrome: the relevance of cognitive ability

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Journal of intellectual disability research : JIDR 2001-02-01 Down syndrome and Alzheimer's

    More years of education have been found to be associated with a lower rate of Alzheimer disease (AD) in individuals without intellectual disability.

  20. Cerebral amyloidosis, amyloid angiopathy, and their relationship to stroke and dementia

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Journal of Alzheimer's disease : JAD 2001-02-01 Down syndrome and Alzheimer's

    Cerebral amyloid angiopathy (CAA) is the common term used to define the deposition of amyloid in the walls of medium- and small-size leptomeningeal and cortical arteries, arterioles and, less frequently, capillaries and veins.

  21. Differences between GABA levels in Alzheimer's disease and Down syndrome with Alzheimer-like neuropathology

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Naunyn-Schmiedeberg's archives of pharmacology 2001-02-01 Down syndrome and Alzheimer's

    Down syndrome (DS) is a genetic disease with developmental brain abnormalities resulting in early mental retardation and precocious, age-dependent Alzheimer-type neurodegeneration.

  22. Carbohydrate handling enzymes in fetal Down syndrome brain

    ✓ Peer-reviewed alzhub usefulness score 28 out of 100. Journal of neural transmission. Supplementum 2001-01-01 Down syndrome and Alzheimer's

    Impaired glucose metabolism in adult Down Syndrome (DS) has been well-documented in vivo and information on the underlying biochemical defect i.e. aberrant glucose handling enzymes is already available.

  23. Down syndrome: progress in research

    ✓ Peer-reviewed alzhub usefulness score 32 out of 100. Mental retardation and developmental disabilities research reviews 2001-01-01 Down syndrome and Alzheimer's

    This review discusses the research published in the last five years on the behavioral, genetic, medical, and neuroscience aspects of Down syndrome.

  24. Glial-neurotrophic mechanisms in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 32 out of 100. Journal of neural transmission. Supplementum 2001-01-01 Down syndrome and Alzheimer's

    Complex interactions and interconnectivity between neurons are hallmarks of normal neuronal differentiation and development.

  25. Superoxide dismutase SOD1, encoded on chromosome 21, but not SOD2 is overexpressed in brains of patients with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2001-01-01 Down syndrome and Alzheimer's

    Increased SOD-1 levels in patients with DS may reflect the overexpression by the trisomic state, as a response to the oxidative stress, as has been proposed in DS by several authors.

  26. The brain in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. Journal of neural transmission. Supplementum 2001-01-01 Down syndrome and Alzheimer's

    Down syndrome (trisomy 21) is a genetic disease with developmental brain abnormalities resulting in early mental retardation and precocious, age dependent Alzheimer-type neurodegeneration.

  27. Unaltered expression of Fas (CD95/APO-1), caspase-3, Bcl-2 and annexins in brains of fetal Down syndrome: evidence against increased apoptosis

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Journal of neural transmission. Supplementum 2001-01-01 Down syndrome and Alzheimer's

    Apoptosis is the mechanism by which cells are programmed to die under a wide range of physiological and developmental stimuli.

  28. Sequence of cognitive decline in dementia in adults with Down's syndrome

    ✓ Peer-reviewed alzhub usefulness score 54 out of 100. Journal of intellectual disability research : JIDR 2000-12-01 Down syndrome and Alzheimer's

    In a longitudinal study in which all participants were healthy at the time of their entry into the study, the present authors compared the amount of decline on the subtests of the WISC-R to determine the sequence of cognitive decline associated with varying stages of dementia.

  29. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. American journal of medical genetics 2000-08-01 Down syndrome and Alzheimer's

    Several lines of evidence suggest a shared genetic susceptibility to Down syndrome (DS) and Alzheimer disease (AD).

  30. Are hereditary hemochromatosis mutations involved in Alzheimer disease?

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. American journal of medical genetics 2000-07-01 Down syndrome and Alzheimer's

    Mutations in the class I-like major histocompatibility complex gene called HFE are associated with hereditary hemochromatosis (HHC), a disorder of excessive iron uptake.

  31. Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer's disease and Down syndrome: differential effects of APOE genotype and presenilin mutations

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. The American journal of pathology 2000-07-01 Genetics

    Endocytosis is critical to the function and fate of molecules important to Alzheimer's disease (AD) etiology, including the beta protein precursor (betaPP), amyloid beta (Abeta) peptide, and apolipoprotein E (ApoE).

  32. Morphological and biochemical assessment of DNA damage and apoptosis in Down syndrome and Alzheimer disease, and effect of postmortem tissue archival on TUNEL

    ✓ Peer-reviewed alzhub usefulness score 44 out of 100. Neurobiology of aging 2000-07-01 Down syndrome and Alzheimer's

    We have previously shown that Alzheimer disease (AD) brain exhibits terminal deoxynucleotidyl transferase dUTP nick end-labeling (TUNEL) for DNA damage and morphological evidence for apoptosis.

  33. On chronological changes in the basic EEG rhythm in persons with Down syndrome - with special reference to slowing of alpha waves

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Brain & development 2000-06-01 Down syndrome and Alzheimer's

    The authors tried to know specificity of aging in persons with Down syndrome (DS) from the aspect of electroencephalograph (EEG) frequency changes through the cross-sectional and longitudinal studies, in comparison with normal persons as well as those with mentally retardation except the Down syndrome (non-DS MR).

  34. Phospholipid composition and levels are altered in Down syndrome brain

    ✓ Peer-reviewed alzhub usefulness score 42 out of 100. Brain research 2000-06-01 Down syndrome and Alzheimer's

    Phospholipid composition (mol %) and levels (nmol/mg protein) were determined in postmortem frontal cortical and cerebellar gray matter from older Down Syndrome (DS) patients (age range 38-68 years) and from control subjects.

  35. Alzheimer's disease in the parents of women with trisomic spontaneous abortions

    ✓ Peer-reviewed alzhub usefulness score 37 out of 100. Neuroreport 2000-03-01 Down syndrome and Alzheimer's

    We tested whether familial aggregation of Down syndrome and Alzheimer's disease (AD) is present for trisomies of other autosomes.

  36. A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase

    ✓ Peer-reviewed alzhub usefulness score 35 out of 100. Cytogenetics and cell genetics 2000-01-01 Down syndrome and Alzheimer's

    Down syndrome individuals develop abnormalities of most organs, including all the pathological and neurochemical features of Alzheimer's disease, by the early age of 30 yr. Here, we report the isolation and characterization of BACE2, a gene mapping on human chromosome 21q22.3, which is highly similar to a transmembrane aspartyl protease, BACE (for beta-site APP-cleaving enzyme), which is able to catalyze the beta-secretase cleavage of Alzheimer's amyloid precursor protein (APP).

  37. Behavioral phenotype of individuals with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Mental retardation and developmental disabilities research reviews 2000-01-01 Digital health tools

    Evidence is reviewed for a developmentally-emerging behavioral phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language production, and auditory short-term memory in infancy and childhood, but fewer adaptive behavior problems than individuals with other cognitive disabilities.

  38. Presenilin 1 and alpha-1-antichymotrypsin polymorphisms in Down syndrome: no effect on the presence of dementia

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. American journal of medical genetics 1999-12-01 Down syndrome and Alzheimer's

    As people with Down syndrome (DS) age, they are at greater risk for Alzheimer disease (AD) than the general population.

  39. Increased levels of tau-like protein in patients with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 29 out of 100. Neuroscience letters 1999-11-01 Down syndrome and Alzheimer's

    Tau-like protein levels from 40 Down syndrome (DS) persons (31-70 years old), 40 non-DS age-matched normal controls, 18 non-DS mentally retarded (MR) persons (26-91 years old), 25 probable Alzheimer disease (AD) patients (55-99 years old) and 24 non-demented elderly controls (54-79 years old) were measured using a sandwich enzyme linked immunosorbent assay.

  40. Gonadal function in young women with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 30 out of 100. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 1999-10-01 Down syndrome and Alzheimer's

    The patients were at stage V of sexual development.

  41. Cervical spine abnormalities in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 33 out of 100. Clinical neuropathology 1999-09-01 Down syndrome and Alzheimer's

    Down Syndrome (DS) is the most common of the chromosomal disorders and manifests abnormalities in several organ systems.

  42. APOE genotype and gender effects on Alzheimer disease in 100 adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 55 out of 100. Neurology 1999-07-01 Genetics

    The epsilon2 allele confers a protective effect, and women with DS have an increased risk for AD, as in the general population.

  43. Health care concerns and guidelines for adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. American journal of medical genetics 1999-06-01 Down syndrome and Alzheimer's

    Down syndrome (DS) is the most common cause of mental retardation in North America, yet little information is available on the natural history of DS in adults.

  44. Neuronal loss and beta-amyloid removal in the amygdala of people with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. Neurobiology of aging 1999-05-01 Down syndrome and Alzheimer's

    The decrease in the number of neurons free of neurofibrillary changes, neurons with neurofibrillary degeneration, and the total volume of beta-amyloid (A beta) deposits in the amygdala of people with Down syndrome and in late stages of Alzheimer disease were estimated by using morphometry and regression analysis.

  45. Apoptosis-associated proteins p53 and APO-1/Fas (CD95) in brains of adult patients with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Neuroscience letters 1999-01-01 Down syndrome and Alzheimer's

    In Down syndrome (DS), enhanced apoptosis (programmed cell death) may play a role in the pathogenesis of characteristic mental retardation and precocious dementia of Alzheimer-type.

  46. Dementia in Down syndrome. Untangling the threads

    ✓ Peer-reviewed alzhub usefulness score 29 out of 100. Australian family physician 1999-01-01 Down syndrome and Alzheimer's

    Despite frequent neuropathological findings, the prevalence of dementia in people with Down syndrome is thought to be no higher than in the general population.

  47. Molecular abnormalities of the brain in Down syndrome: relevance to Alzheimer's neurodegeneration

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Journal of neural transmission. Supplementum 1999-01-01 Down syndrome and Alzheimer's

    Down syndrome is caused by over-expression of genes located within a segment of chromosome 21, termed the Down locus.

  48. Molecular misreading of genes in Down syndrome as a model for the Alzheimer type of neurodegeneration

    ✓ Peer-reviewed alzhub usefulness score 31 out of 100. Journal of neural transmission. Supplementum 1999-01-01 Down syndrome and Alzheimer's

    The occurrence of +1 frameshifted proteins, such as amyloid precursor protein (APP+1) and ubiquitin-B (UBB+1) in Down syndrome (DS) has been linked to the onset of Alzheimer's disease (AD).

  49. Neuronal apoptosis inhibitory protein (NAIP)-like immunoreactivity in brains of adult patients with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 34 out of 100. Journal of neural transmission. Supplementum 1999-01-01 Down syndrome and Alzheimer's

    In Down syndrome (DS), enhanced apoptosis (programmed cell death) may play a role in the pathogenesis of characteristic early mental retardation and precocious neurodegeneration of Alzheimer-type.

  50. Serotonin (5-HT) in brains of adult patients with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Journal of neural transmission. Supplementum 1999-01-01 Down syndrome and Alzheimer's

    Down syndrome (DS) is a genetic disease with developmental brain abnormalities resulting in early mental retardation and precocious, age dependent Alzheimer-type neurodegeneration.

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