Alzheimer Disease
Conditions
Keywords
Genetic testing, Genetic influence
Brief summary
The goal of this study is to is to focus on the genetic influences on Alzheimer's Disease (AD) risk. The investigators are looking for families and/or individuals (affected or unaffected) of any ethic background (African American, Caucasian, and Hispanics) with a family history of AD and willing to participate.
Detailed description
The purpose of this study is to focus on the genetic influences on Alzheimer's disease (AD) risk. Specifically, the investigators hypothesize that one or more genes, other than the previously identified susceptibility gene apolipoprotein-E (APOE), or the 3 genes associated with early-onset familial AD, presenilin-1 (PS-1), presenilin-2 (PS-2) or B-amyloid precursor protein (APP), increase the risk of AD in families with multiple individuals affected with AD. The investigators propose to test this hypothesis by performing genetic linkage analysis in order to detect the chromosomal location of genes that may increase the risk of Alzheimer's disease. In addition, the investigators will study genes known to increase the risk of Alzheimer's disease and other related disorders such as early onset AD, Pick disease, corticobasal degeneration, progressive supranuclear palsy, and familial frontotemporal dementia with parkinsonism and Lewy Body Dementia.
Interventions
GENETICBlood Draw
Collection of blood samples for genetic testing
OTHERLate Onset Alzheimer's Disease (LOAD) Neuropsychological Battery Test
Memory Test
Sponsors
Columbia University
National Institute on Aging (NIA)
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
55 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Established diagnosis of definite or probable AD or have a diagnosis of a related neurodegenerative disorder such as Frontotemporal Dementia (FTD) or Lewy Body Dementia (LBD) (will also recruit sporadic FTD and LBD) cases. * a living sibling with probable or possible AD; * a third living relative affected with AD (onset age 50 or older) or unaffected (60 or older); * participants in the proband's generation with an identified companion serving as an informant; * participants who have capacity to consent or participants lacking capacity to consent with a surrogate/proxy in place to provide consent.
Exclusion criteria
* failure to identify an appropriate informant; * uncertainty of the clinical diagnosis of Alzheimer's disease or other related disorder; * discovery of additional diagnosis that could account for the clinical manifestations; * unwillingness to participate; * failure to identify a living sibling with AD or other related disorder (except in the cases of sporadic FTD and sporadic LBD); * participants lacking the capacity to consent who do not have a surrogate or proxy or next of kin to provide consent.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Total number of genes identified to be associated with the risk of AD | 5 years | Genetic Linkage Analysis to Identify Genes Associated with the risk of Alzheimer's Disease: Identification of genes by performing genetic linkage analysis, in order to detect the chromosomal location of genes that may increase the risk of Alzheimer's disease. |
Countries
United States
Contacts
CONTACTDolly Reyes-Dumeyer
CONTACTAmanda Chan
PRINCIPAL_INVESTIGATORRichard P. Mayeux, MD, MSc
Columbia University
Outcome results
None listed