I found a number of ataxia patients in which a routine blood analysis revealed increased plasma levels of alpha fetoprotein whiteout any clear signification. As far as I know this glycoprotein is mainly produced in liver during the fetal development and it is a marker of abnormalities in the neural tube development. May these findings in some ataxia patients mean that the origin of the ataxia is related to abnormalities in the development of central nervous system, particularly the vermis?
You need to be more specific about what the origin of non-genetic ataxia is in the cases you are talking about. To me, non-genetic ataxia is caused by surgery, a stroke, MS, or in response to certain drugs or alcohol abuse. Because of these many causes of "non-genetic ataxias", I would not expect them to have any biomarker in common. Some genetic ataxias, on the other hand, have in common a developmental problem, usually affecting Purkinje cells of the cerebellum, which I also would not expect to affect AFP. ATM has different causes and does lead to increased AFP.
My best guess of the AFP finding is to ask your patients carefully about OTC meds they are taking - there are tons of folk remedies, Vitamin E is often taken in excessive doses, as well as CoQ10, and many more. My best guess is that AFP is increased in response to something they may be taking. But one reference find 28% of people without problems have elevated AFP: http://www.ncbi.nlm.nih.gov/pubmed/18795704
So that seems to be a fairly nonspecific test.
Thank you for your answer Margit.
When I talked about non-genetical ataxias I was indicating people with cerebellar ataxia, vermis atrophia, with gene tests normal. I do agree that AFP is not a specific marker, but I am intrigued about it. I am not so sure that vit E, CoQ10, etc, might lead to increased AFP. It is not usual in Spain. On the other hand the fact that 28% of normal people have elevated AFP does not exclude that they may develop a kind of neurological abnormality in a future. I will continue to find any possible relationship.
Thank you again
Jesús Devesa
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