Parkinson's Disease & DNA

[Ronhutton]

Are there any others out there who like myself, have Parkinsons?
If so, you may be interested to learn that many PD patients are misdiagnosed, and have a gene disorder called FXTAS.
See http://www.ucdmc.ucdavis.edu/mindins...rence/faqs.htm
FXTAS can be diagnosed by a DNA test, to detect a small mutation called a premuation in the FMR1 gene. This is the same gene responsible for Fragile X syndrome.
I have had a 12 marker DNA test by FamilyTree for genealogy purposes. I now need to know whether this mutation of the FMR1 gene can be picked up by the same test.
Ron Hutton

[AngelaC]

Re: Parkinson's Disease & DNA

Originally posted by Ronhutton
Are there any others out there who like myself, have Parkinsons?
If so, you may be interested to learn that many PD patients are misdiagnosed, and have a gene disorder called FXTAS.
See http://www.ucdmc.ucdavis.edu/mindins...rence/faqs.htm
FXTAS can be diagnosed by a DNA test, to detect a small mutation called a premuation in the FMR1 gene. This is the same gene responsible for Fragile X syndrome.
I have had a 12 marker DNA test by FamilyTree for genealogy purposes. I now need to know whether this mutation of the FMR1 gene can be picked up by the same test.
Ron Hutton

Hi Ron,
I had a good look at the web site you show above...
The FXTAS mutation will have no effect on your 12 marker test. The 12 marker test looks at small areas on the Y-chromosome, and the FXTAS mutation is on the X-chromosome. Because they are on totally different chromosomes, you can be 100% assured that the 12 marker tests won't pick up the FMR1 gene.

Angela

[Ronhutton]

Hi Angela,
Thanks for your information. I was rather hoping my 12 marker Y chromosone test might show whether I have the FXTAS mutation. I will need to have an X test now.
I calculate from the incidence figues in the reference I gave, that out of 100 people per 100,000 population who have Parkinson's Disease, 37 of that 100 really have FXTAS, a gene disorder rather than a chemical messenger deficiency. I want to know which one I have.
Ron