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Re: Olivopontocerebellar Atrophy
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Re: Olivopontocerebellar Atrophy

Posted By ccf neuro M.D.* on August 18, 1997 at 20:17:22:

In Reply to: Olivopontocerebellar Atrophy posted by Sandy Clarke on August 18, 1997 at 14:15:18:








I was able to get information from the wonderful people at the general medical forum but would like to get some more detailed information on Olivopontocerebellar Atrophy. My mother passed away recently. She had Type 1, and she was 73 years old at the time of her passing. There are nine of us children, I am 33 years old and my oldest sibling is 51. What I would like to know is if there is any gene testing being done. I would also like to know of any research that is being done on this disease.  Thank you very much.
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Sandy,
There are two general categories of OPCA, familial and sporadic. There are at least seven defined subtypes of familial OPCA. The familial forms generally begin significantly earlier in life (40s and 50s) than the sporadic form (70s). This disease was first described in 1891, and unfortunately, we are not much closer to understanding it today than we were back then!!! OPCA is generally felt to be within the spectrum of diseases collectively known as Multisystem Atrophy (MSA). I would refer you to the question below your in the forum entitled "Parkinson's Plus" for additional information about the spectrum of MSA. I am not certain as to where if any place gene testing is being done, especially for sporadic cases such as that which apparently occurred in your mother ( I am assuming that no one else in your family has suffered from such an illness in the past), but the genetics institute connected to Johns Hopkins might be an excellent resource for such information and testing, as might be the National Institutes of Health; both are located in Baltimore, Maryland. Much like Alzheimer's disease and amytrophic lateral sclerosis, OPCA is a progressive, degenerative neurologic disease that is invariably terminal in its final stages. It derives its name from the original neuropathological observations made in brains of persons suffering from the disease, in which it was noted that parts of the brain called the cerebellum, the pons, and two bumps on the brainstem known as the inferior olives, were shrivelled or atrophied. You should know that the chances of you and your siblings contracting the disease, while increased compared to others, are still extremely small in the absence of any know family history of the disease; thus, I would caution you not to become too worried about or dwell upon such an unlikely possibility. The issue of genetic testing for such diseases in general is a controversial one, and I would urge you to use the utmost caution in assuring that any and all specific information gained from such testing be kept strictly confidential by the testing party. Congress has passed and is working on additional legislation to assure universal ethical and legal standards regarding such testing. Information provided in the Neurology Forum is intended for general medical informational purposes only. Actual diagnosis and treatment of your particular medical condition should be strictly in conjunction with your treating physician(s).

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