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PSEN1
Also known as: PS1, PS-1, Presenilin 1, S182 Formal name: PS1 or PSEN1 genetic mutation analysis Related tests: ApoE, Tau/Ab42
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Common Questions
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1. My father has been diagnosed with early onset AD. Can my doctor tell if my father has a genetic mutation without a blood test?
2. What other genes cause AD3 and is testing available for them?
1. My father has been diagnosed with early onset AD. Can my doctor tell if my father has a genetic mutation without a blood test?
No, the symptoms for AD3, sporadic early onset AD, and late onset AD are the same except for the age of onset. You cannot tell whether someone has a genetic mutation just by looking at them. If there is a strong family history of early onset AD, and especially if another family member has been diagnosed with a genetic mutation, your doctor may suspect a genetic problem, but a blood test is the only way to confirm this suspicion.
2. What other genes cause AD3 and is testing available for them?
The other genes that have mutations associated with AD3 are PSEN2 and APP (amyloid precursor protein). PSEN2 testing is available. APP testing is available in a couple of places in the world, but it is still essentially a research tool. It should be noted that PSEN2 and APP mutations are very rare. They have only been identified in a very small number of specific family lines.
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This article was last reviewed on
May 29, 2006.
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