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Columbia University College of Physicians and Surgeons | Dementia: Update for the Practitioner
 
 Introduction
 
 Diagnosis of Mild Cognitive Impairment and Alzheimer's Disease
Karen L. Bell, M.D.
 
 Treatment Strategies for Dementia and Mild Cognitive Impairment
Mary Sano, Ph.D.
 
 Treatment of Depression, Agitation, and Psychosis in Dementia
Davangere P. Devanand, M.D.
 
  Recognition of Vascular Dementia, Dementia with Lewy Bodies, and Frontotemporal Dementia
Lawrence S. Honig, M.D., Ph.D.
 
  Neuropsychology of Mild Cognitive Impairment, Alzheimer's Disease, Dementia with Lewy Bodies, and Frontotemporal Dementia Penne Sims, Ph.D.
 
  Neuroimaging in Dementia
Scott A. Small, M.D.
 
  Genetics of Neurodegenerative Disease: Alzheimer's Disease, Frontotemporal Dementia
Jennifer Williamson-Catania, M.S.
 
  Family Patterns in Alzheimer's Disease
 
 
  Genetics of Early-Onset AD
 
 
  Genetics of Late-Onset AD
 
 
  Genetic Testing for AD
 
 
  Genetic Testing for FTD
 
 
  Why Offer Testing?
 
 
  Legal and Ethical Issues for Patients with Dementia
Daniel G. Fish, Esq.
 
 
Posttest
 
 
 
 
 
Accreditation
 
 
Reference List
 
 
Acknowledgements

 Begin page content 
Genetics of Neurodegenerative Disease: Alzheimer's Disease, Frontotemporal Dementia
Jennifer Williamson-Catania, M.S.

Genetic Testing for AD
 
Clinically, genetic testing for presenilin-1 for early-onset Alzheimer's disease is available through Athena Diagnostics and the laboratory of Dr. F. Echevarne in Spain. Presenilin-2 testing is offered by the same laboratory in Spain. Columbia is doing research on both of these genes.
 
A paper published in the Journal of the American Medical Association looked at the genetic diagnosis of a woman who was a known carrier of a mutation in the amyloid precursor protein. She had a history of early-onset Alzheimer's disease with a known mutation in the family; when she was tested presymptomatically they found a mutation. She wanted to have children, so they offered her preimplantation genetic diagnosis, which involves in vitro fertilization by fertilizing an egg with sperm, allowing the embryo to develop to the eight-cell stage, and testing one cell for that known mutation. This guarantees this woman the choice of an embryo without the disease-causing mutation.
 
     
Availability of Clinical Testing

-Clinical testing
--Presenilin 1-direct DNA
- -Athena Diagostics
- -Lab of Dr. F. Echevarne (Barcelona, Spain)
- - research being conducted here, as well
--Presenilin 2-direct DNA
- -Lab of Dr. F. Echevarne (Barcelona, Spain)
- - research being conducted here, as well

-Research testing
-- Amyloid Precursor Protein
- - Reproductive Genetics Institute
--preimplantation diagnosis only
 
Clinical testing is available for some of the genes thought to be involved in Alzheimer's disease.

Courtesy of Jennifer Williamson-Catania, M.S.
 
 
This paper raised a lot of ethical issues about the woman's ability to parent, given that she knows she will develop early-onset Alzheimer's disease in her 50s, when her family members developed it. What would it mean for this woman to be a parent with this disease?
 
 
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