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Alzheimer's disease (AD) or
primary dementia of Alzheimer's type, is an incurable, degenerative
neuropsychiatric disease which results in a pervasive loss
of first mental, then physical functioning due to the deterioration
of brain tissue. Progressive dementia not due to any external
or psychological cause is its primary and most pervasive symptom.
Its exact etiology (cause) is still unknown, but is considered
to be physiological. Genetic factors are thought to contribute.
Certainty of diagnosis still requires autopsy of the brain,
to determine the existence of characteristic senile plaques
(which while indicators, are not causal factors of the memory
loss) within the brain's neuronal structure, the one way to
confirm the dementia was not caused by some other illness,
substance, injury or disorder. (Source:
Wikipedia. For more info click here...)
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The AD
Genetic Link Newsletter
The Familial
Alzheimer's Disease Research Program, spearheaded by
Dr. Susan Bassett, is a collection of studies aimed at understanding
the genetic susceptibility to Alzheimer's disease and identifying
risk factors in populations at risk. The program also uses functional
imaging and neuropsychological testing to investigate cognitive
abnormalities in these populations. For
more information on any of these projects, please contact Catherine
Cristinzio at 410-955-2754
Diagnostic
Center for Genetic Linkage Studies in Alzheimer's Disease
PI: Susan Spear Bassett, Ph.D.
IRB # 89-02-28-03
This project is funded by the National Institute
of Mental Health, and is part of a major NIMH initiative focused
on identifying and mapping genes for psychiatric disorders. The
goal is to identify, systematically evaluate and enroll families
with two or more siblings diagnosed with AD and proceed to search
for AD genes. Its specific aims are:
- Enrollment of members of previously enrolled
families with at least two siblings affected with AD including
collection of pedigree data and blood samples.
- Enrollment of healthy
control participants from the community from families with no
history of AD.
- Longitudinal follow-up of enrolled subjects
to document disease progression and monitor status in currently
unaffected siblings
- Arrangement of autopsies for neuro-pathological
confirmation of diagnosis
Examination of clinical, neuro-pathological and genetic data for
sub-typing and identification of possible risk and protective
factors
Perceptions
of Risk and Genetic Testing for AD
PI: Susan Spear Bassett, Ph.D.
IRB # 96-09-26-01
This project is funded by the National Human Genome
Research Institute. Alzheimer's disease (AD) is a complex disorder
in which advances in molecular genetics have made pre-symptomatic
testing an issue of intense controversy. The overall objective of
this study is to examine both the understanding of inheritance of
AD risk and views on susceptibility testing among individuals at
increased risk for AD and among physicians who care for patients
with this disease; and then to develop an educational program to
increase comprehension of these issues. Its specific aims are to:
- Assess the understanding of individuals at
increased risk of AD, of the contribution of hereditary factors
to AD and the usefulness of tests in predicting susceptibility;
- Investigate the experiences and characteristics
that motivate adult offspring's interest in tests for genetic
susceptibility in the absence of efficacious treatment or prevention;
- Assess the understanding of physicians treating
individuals in families with multiple affected members regarding
the inheritance of AD and the usefulness of tests in predicting
AD;
- Evaluate the correspondence between views of
physicians of AD patients and the patient's adult offspring regarding
tests for genetic susceptibility, and
- Evaluate ways of improving comprehension
of the complexity of AD inheritance particularly with regard to
the propensity to accept genetic testing.
-- This project is now completed
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Brain
Imaging and Cognition in Individuals At Risk for AD
PI: Susan Spear Bassett, Ph.D.
IRB # 98-02-25-02
This project is funded by the National Institute
on Aging. The goal of this project is to study cognition and neuroimaging
longitudinally in a sample of adults who are at increased risk for
development of AD and contrast these findings with those of matched
control group. The project's specific aims are to:
- Examine cognitive performance on tests of memory
and learning, and both generalized and regional brain measures
using both MRI and fMRI. Participants, all at least 50 years of
age, include 100 adult offspring of autopsy-confirmed AD cases
who are members of multi-plex families currently enrolled in a
genetic study of AD, and 100 control participants matched for
age and gender.
- Correlate findings with genetic status, including
APOE and A2M
Alzheimer's
Disease Genes Project
PI: Susan Spear Bassett, Ph.D.
IRB # 89-02-28-03
So far, a large number of chromosomal regions
have been linked to AD, but the findings are often inconsistent
among studies. This may be due, in part, to the genetic heterogeneity
of the families studied. The major aim of this study is to further
refine the chromosomal regions that have been linked to AD by defining
more homogeneous subgroups of families. By doing this, we hope to
prioritize these regions for fine mapping and to identify genes
for this disease.
