Early striatal amyloid deposition distinguishes Down syndrome and autosomal dominant Alzheimer's disease from late-onset amyloid deposition

Topic: Amyloid, tau and blood-test diagnosis

Introduction The objective of this study was to evaluate amyloid β (Aβ) deposition patterns in different groups of cerebral β amyloidosis: (1) nondemented with amyloid precursor protein overproduction (Down syndrome); (2) nondemented with abnormal processing of amyloid precursor protein (preclinical autosomal dominant Alzheimer disease); (3) presumed alteration in Aβ clearance with clinical symptoms (late-onset AD); and (4) presumed alterations in Aβ clearance (preclinical AD). Methods We performed whole-brain voxelwise comparison of cerebral Aβ between 23 Down syndrome, 10 preclinical autosomal dominant Alzheimer disease, 17 late-onset AD, and 16 preclinical AD subjects, using Pittsburgh Compound B-positron emission tomography. Results We found both Down syndrome and preclinical autosomal dominant Alzheimer disease shared a distinct pattern of increased bilateral striatal and thalamic Aβ deposition compared to late-onset AD and preclinical AD. Conclusion Disorders associated with early-life alterations in amyloid precursor protein production or processing are associated with a distinct pattern of early striatal fibrillary Aβ deposition before significant cognitive impairment. A better understanding of this unique pattern could identify important mechanisms of Aβ deposition and possibly important targets for early intervention.

@article{cohen2018-29477284,
  author  = {Cohen, A. D. and McDade, E. and Christian, B. and Price, J. and Mathis, C. and Klunk, W. and Handen, B. L.},
  title   = {{Early striatal amyloid deposition distinguishes Down syndrome and autosomal dominant Alzheimer's disease from late-onset amyloid deposition}},
  journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association},
  year    = {2018},
  doi     = {10.1016/j.jalz.2018.01.002},
  pmid    = {29477284},
  url     = {https://doi.org/10.1016/j.jalz.2018.01.002}
}

Key findings

• Results We found both Down syndrome and preclinical autosomal dominant Alzheimer disease shared a distinct pattern of increased bilateral striatal and thalamic Aβ deposition compared to late-onset AD and preclinical AD.
• Conclusion Disorders associated with early-life alterations in amyloid precursor protein production or processing are associated with a distinct pattern of early striatal fibrillary Aβ deposition before significant cognitive impairment.

Why it matters

Using Pittsburgh Compound B-positron emission tomography in 23 people with Down syndrome, 10 with preclinical autosomal dominant Alzheimer's disease, 17 with late-onset Alzheimer's disease and 16 with preclinical Alzheimer's disease, the study found that Down syndrome and preclinical autosomal dominant Alzheimer's disease shared increased bilateral striatal and thalamic amyloid-beta deposition compared with the other groups. The authors suggest this distinct pattern could point to targets for early intervention.

Study details

• Evidence strengthLow

Read the original

• DOI: 10.1016/j.jalz.2018.01.002
• PubMed: 29477284
• Original source →
• Free full text: PubMed Central →

Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).

Related

Studies in the library that share something with this one. The line above each title says what.

• same condition: Down syndrome; same outcome: amyloid or tau burden The Amyloid Plaque Proteomes of Alzheimer’s Disease and Mild Cognitive Impairment Research Square · 2026-03-08 · usefulness score 16/100
• same condition: Down syndrome; same outcome: amyloid or tau burden Amyloid plaque core protein in Alzheimer disease and Down syndrome Proceedings of the National Academy of Sciences of the United States of America · 1985-06-01 · usefulness score 56/100
• same condition: Down syndrome; same outcome: amyloid or tau burden Lecanemab and Vascular-Amyloid Deposition in Brains of People With Down Syndrome JAMA neurology · 2024-10-01 · usefulness score 53/100
• same condition: Down syndrome; same outcome: amyloid or tau burden Intraneuronal abeta-amyloid precedes development of amyloid plaques in Down syndrome Archives of pathology & laboratory medicine · 2001-04-01 · usefulness score 51/100
• same condition: Down syndrome; same outcome: amyloid or tau burden Sequence of Deposition of Heterogeneous Amyloid β-Peptides and APO E in Down Syndrome: Implications for Initial Events in Amyloid Plaque Formation Neurobiology of Disease · 1996-02-01 · usefulness score 51/100
• same condition: Down syndrome; same outcome: amyloid or tau burden Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report Alzheimer's & dementia (Amsterdam, Netherlands) · 2019-11-25 · usefulness score 50/100

Studies this one cites

Referenced by this study and also in the alzhub library, so you can read them here.

• The Alzheimer's disease neuroimaging initiative (ADNI): MRI methods Journal of Magnetic Resonance Imaging · 2008-02-26 · usefulness score 72/100 · Brain scans and imaging
• Mild cognitive impairment as a diagnostic entity Journal of internal medicine · 2004-09-01 · usefulness score 57/100 · Getting a diagnosis
• Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study The Lancet. Neurology · 2012-11-06 · usefulness score 57/100 · Prevention and risk
• Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease Acta neuropathologica · 2012-12-06 · usefulness score 55/100 · Risk genes beyond APOE
• The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology Nature medicine · 1996-10-01 · usefulness score 54/100 · Risk genes beyond APOE
• High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types Archives of neurology · 2009-12-01 · usefulness score 50/100 · Risk genes beyond APOE
• The effects of normal aging on amyloid-β deposition in nondemented adults with Down syndrome as imaged by carbon 11-labeled Pittsburgh compound B Alzheimer's & dementia : the journal of the Alzheimer's Association · 2015-06-13 · usefulness score 45/100 · Down syndrome and Alzheimer's
• Positron emission tomography and neuropathologic estimates of fibrillar amyloid-β in a patient with Down syndrome and Alzheimer disease Archives of neurology · 2011-11-01 · usefulness score 40/100 · Down syndrome and Alzheimer's

Later studies that cite this one

9 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.

• Amyloid PET Quantitation and Centiloid Thresholds in the Diagnosis of Alzheimer Disease: An Individual Participant Data Meta-Analysis JAMA · 2026-07-13 · usefulness score 79/100 · Getting a diagnosis
• Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome JAMA neurology · 2021-08-01 · usefulness score 64/100 · Biomarkers
• The striatum is an early, accurate indicator of amyloid burden using [11C]PiB in Down syndrome: comparison of two radiotracers Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024-12-06 · usefulness score 63/100 · Down syndrome and Alzheimer's
• The striatum is an early, accurate indicator of amyloid burden using [11C]PiB in Down syndrome: Comparison of two radiotracers Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025-04-01 · usefulness score 60/100 · Down syndrome and Alzheimer's
• Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study The Lancet. Neurology · 2023-01-01 · usefulness score 60/100 · Biomarkers
• Alzheimer's disease associated with Down syndrome: a genetic form of dementia The Lancet. Neurology · 2021-11-01 · usefulness score 59/100 · Prevention and risk
• Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome Annals of neurology · 2025-03-14 · usefulness score 45/100 · Down syndrome and Alzheimer's
• Beyond amyloid: Immune, cerebrovascular, and metabolic contributions to Alzheimer disease in people with Down syndrome Neuron · 2022-04-25 · usefulness score 40/100 · Down syndrome and Alzheimer's

Related studies in Down syndrome and Alzheimer's

• Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimer´s disease Nature communications · 2025-07-01 · usefulness score 55/100
• Cross-Sectional FDG in Down Syndrome and Autosomal Dominant Alzheimer's Disease Annals of neurology · 2025-09-22 · usefulness score 46/100
• Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: a regional quantitative analysis Experimental neurology · 1998-04-01 · usefulness score 36/100
• Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies Neurology · 2006-01-01 · usefulness score 39/100
• The amyloid plaque proteome in early onset Alzheimer's disease and Down syndrome Acta neuropathologica communications · 2022-04-13 · usefulness score 43/100
• Senile myoclonic epilepsy of Genton: two cases in Down syndrome with dementia and late onset epilepsy Epilepsy research · 2007-10-24 · usefulness score 38/100

Also tagged “down”

527 studies in the library carry the topic tag “down”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 527 tagged studies.

• Frailty in Adults With Down Syndrome: Cognitive, Functional and Biomarker Associations Journal of intellectual disability research : JIDR · 2026-08-18 · usefulness score 37/100 · Down syndrome and Alzheimer's
• Relevance of donepezil in enhancing learning and memory in special populations: a review of the literature Journal of autism and developmental disorders · 2007-01-13 · usefulness score 35/100 · Down syndrome and Alzheimer's
• Epilepsy and subsequent dementia in adults with down syndrome: a propensity score-matched cohort study using federated electronic health records Seizure · 2026-08-28 · usefulness score 53/100 · Down syndrome and Alzheimer's

Studies sharing this one's topic tags

• Neuronal plasticity and astrocytic reaction in Down syndrome and Alzheimer disease Journal of the neurological sciences · 1990-08-01 · usefulness score 39/100 · shares: down, syndrome
• Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study The Lancet. Neurology · 2021-08-01 · usefulness score 62/100 · shares: down, syndrome
• Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study The Lancet. Neurology · 2024-05-01 · usefulness score 67/100 · shares: down, syndrome
• Neuronal and glial gene expression in neocortex of Down's syndrome and Alzheimer's disease Journal of neuropathology and experimental neurology · 1993-05-01 · usefulness score 37/100 · shares: down, syndrome
• Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients PloS one · 2019-04-05 · usefulness score 46/100 · shares: down, syndrome

Similar studies

• Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein 1984 · Down syndrome and Alzheimer's
• Down syndrome, Alzheimer disease, and cerebral amyloid angiopathy: The complex triangle of brain amyloidosis 2019 · Down syndrome and Alzheimer's
• The prevalence of amyloid (A4) protein deposits within the cerebral and cerebellar cortex in Down's syndrome and Alzheimer's disease 1990 · Treatments
• Timeline to symptomatic Alzheimer's disease in people with Down syndrome as assessed by amyloid-PET and tau-PET: a longitudinal cohort study 2024 · Brain scans and imaging
• Characteristic developmental expression of amyloid beta40, 42 and 43 in patients with Down syndrome 2003 · Down syndrome and Alzheimer's
• Detection of Alzheimer disease in individuals with Down syndrome 1995 · Down syndrome and Alzheimer's

More on Down syndrome and Alzheimer's

• A review that covers this ground Loss of Proteostasis and Early-Onset Neurodegeneration in Down Syndrome: From Mechanisms to Interventions Antioxidants (Basel, Switzerland) · 2026-04-21 · usefulness score 39/100
• Newest in this subject Single-cell and spatial transcriptomics of cellular heterogeneity in Alzheimer disease Nature reviews. Neuroscience · 2026-11-06 · Peer-reviewed · usefulness score 43/100
• Newest in this subject Avoidable Mortality in Adults With Down Syndrome or With Other Intellectual Disabilities JAMA network open · 2026-11-02 · Peer-reviewed · usefulness score 76/100

See all studies in Down syndrome and Alzheimer's →