DIAN Data Resource Requests

Title:Dominantly inherited Alzheimer's disease and Dutch-type cerebral amyloid angiopathy: a comparison of fluid biomarkers, imaging, cognitive and neuropsychiatric measures

Date of Request:07/24/2024

Aim 1:To examine the difference between D-CAA and ADAD in CSF and blood biomarkers, including Amyloid beta (Aβ) 40, Aβ42, total tau, p-tau181, matrix metalloproteinase 9 (MMP-9), fibrinogen, vascular cell adhesion molecule-1 (VCAM-1), Neurofilament light chain (NfL), and Glial Fibrillary Acidic Protein M(GFAP), over time.

Aim 2:To identify changes over time in cognitive domains, such as executive functions and memory, and NPS like depression, anxiety, and apathy in (pre)clinical stages of ADAD and D-CAA

Aim 3:To examine the relationship between fluid and imaging (amyloid PET and MRI) biomarkers in ADAD and D-CAA, and their relationship with cognition and NPS in (pre)symptomatic ADAD and D-CAA.

Aim 4To investigate whether demographic and lifestyle factors (such as age, education, exercise and socioeconomic status) influence on cognitive decline and NPS in (pre)symptomatic ADAD and D-CAA over time and whether these changes affect functioning and caregiver burden.

Title:Analysis of proteomic signatures of MFG-E8 and medin amyloid in patients with autosomal dominant Alzheimer’s disease (ADAD)

Date of Request:07/21/2024

Status:pending approval

ID:DIAN-D2420

Aim 1:To test the association between MFG-E8 levels and neuroimaging markers of CAA

Aim 2:To test modulating factors of biofluid MFG-E8 levels including APOE e4 genotype and vascular risk factors

Aim 3:To determine the proteomic network and levels of medin associated with alterations in MFG-E8

Title:Age of Onset determination in Autosomal Dominantly Inherited Alzheimer‘s Disease

Date of Request:07/09/2024

Status:pending approval

ID:DIAN-D2419

Aim 1:To inform a neuroimaging data-driven representation of AD progression that could be used to estimate the AoO of ADAD affected subjects.

Aim 2:To develop a deep latent variable model specifically targeted at modelling the fusion of neuroimaging data from different modalities

Title:Investigating Personality Profiles in the Prediction of Dementia Clinical Presentation

Date of Request:07/05/2024

Status:pending approval

ID:DIAN-D2418

Aim 1:To explore whether personality profiles prior to dementia diagnosis predict subsequent behavioural and psychological symptoms of dementia

Title:"Elucidating Protective Mechanisms in a PSEN1 Mutation Carrier Exhibiting Delayed Onset of Alzheimer's Disease"

Date of Request:07/03/2024

ID:DIAN- D2417

Aim 1:Investigate genetic variants contributing to the delayed onset of Alzheimer’s symptoms in a PSEN1 mutation carrier.

Aim 2:Analyze cross-sectional imaging and biomarker data to characterize disease progression and resilience mechanisms.

Aim 3:Identify and validate environmental factors contributing to the unique resilience observed in the individual.

Aim 4Develop comprehensive profiles for the proteomic and metabolomic alterations distinguishing the subject from typical DIAD mutation carriers.

Title:Addendum to “Comparing biomarkers between Down Syndrome, Autosomal Dominant, and Late onset Alzheimer Disease.”

Date of Request:06/26/2024

Status:pending approval

ID:DIAN-D2416

Aim 1:Question 1a: How does the severity of white matter hyperintensities compare between DS and ADAD?

Aim 2:How does the presence of microbleeds compare across DS and ADAD?

Aim 3:Is enlarged perivascular space a common finding across DS and ADAD?

Aim 4Are the presence and progression of WMH, microbleeds, and PVS due to inflammatory processes?

Title:Is Maternal or Paternal origin of ADAD mutations relevant for clinical or biomarker outcome?

Date of Request:06/14/2024

Status:approved

ID:DIAN-D2415

Aim 1:Our aim is to determine whether the onset of Alzheimer's disease (AD) is affected by the inheritance pattern (paternal versus maternal) of AD-causing mutations.

Title:Neuroinflammation Profiles in Alzheimer's Disease Patients with Distinct

Date of Request:06/03/2024

Status:pending approval

ID:DIAN-D2414

Aim 1:Overview the Landscape: Initially, we will assess the overall landscape of neuroinflammation across carriers of different risk variants.

Aim 2:Identify Unique Inflamed Cell Populations: We will then focus on identifying unique inflamed cell populations and compare the levels of inflammation across different risk variant carriers.

Aim 3:Evaluate Common Modulatory Factors: Finally, we will evaluate whether common factors can modulate neuroinflammation in various AD patients, potentially identifying targets for therapeutic intervention.

Title:Autosomal Dominant Alzheimer's Disease

Date of Request:05/26/2024

Status:pending

ID:DIAN-D2413

Aim 1:Investigate longitudinal patterns of clinical decline and neuroimaging changes in Autosomal Dominant Alzheimer's Disease.

Title:Amyloid Chronicity in Autosomal Dominant Alzheimer’s Disease

Date of Request:05/23/2024

Status:approved

ID:DIAN-D2412

Aim 1:Examine associations between estimation of amyloid chronicity and Estimated Year of Symptom Onset (EYO) in Autosomal Dominant Alzheimer Disease

Aim 2:Compare longitudinal rate of amyloid accumulation across autosomal dominant Alzheimer Disease, sporadic Alzheimer Disease, and Down Syndrome

Aim 3:Determine the average length of time between becoming amyloid positive and cognitively impaired in different forms of Alzheimer Disease (autosomal dominant Alzheimer Disease, sporadic Alzheimer Disease, and Down Syndrome)