For: Kimball Genetics, Inc., 101 University Blvd., Suite 350, Denver, CO 80206 Contact: info@kimballgenetics.com (800) 320-1807 FOR IMMEDIATE RELEASE FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Now Available At Kimball Genetics Denver, CO, March 22, 2004—Kimball Genetics, internationally renowned experts in DNA testing for fragile X syndrome, announced today the expansion of their fragile X testing service to include DNA testing for FXTAS (fragile X-associated tremor/ataxia syndrome). FXTAS is a newly described neurological disorder that can affect older men who carry a fragile X premutation. FXTAS is characterized by progressive tremor, gait ataxia, and cognitive decline. The carrier frequency of men with a fragile X premutation is estimated to be 1 in 760 in the general population. One study suggests that up to 30% of male carriers with a fragile X premutation may develop FXTAS. FXTAS is distinct from fragile X syndrome, the most common cause of inherited mental retardation. However, both conditions arise as a consequence of a CGG trinucleotide repeat expansion in the FMR1 gene. The number of CGG repeats varies from 6 to approximately 40 in normal alleles. Premutations have between approximately 55 and 200 CGG repeats. Full mutations have more than 200 repeats and are usually associated with abnormal FMR1 methylation, resulting in fragile X syndrome. Males with a premutation do not typically display characteristics of fragile X syndrome and usually have a normal IQ. Those who eventually develop FXTAS are generally over 50 years of age. They often present with tremor and may have difficulty with handwriting or using eating utensils. They may exhibit unsteadiness with walking and experience frequent falling. As these symptoms gradually progress, cognitive deficits may appear including decreased memory retrieval, distractibility, and dementia. Men with FXTAS may be misdiagnosed as having Parkinson disease, Alzheimer disease, or senile dementia. A correct diagnosis may aid early intervention and treatment. The FXTAS DNA Test should be considered in the evaluation of adult males with intention tremor and/or late-onset ataxia. Kimball Genetics’ FXTAS DNA Test includes both PCR and Southern blot analysis, the highest accuracy of testing, rapid turnaround time, detailed test reports, free genetic counseling for physicians and patients, and excellent personal service. Kimball Genetics is a leader in fragile X research and testing. Ever since the discovery of the FMR1 gene, Kimball Genetics has had extensive and ongoing involvement in this field. For more information about the FXTAS DNA Test, please contact us at (800) 320-1807 or at info@kimballgenetics.com. About Kimball Genetics, Inc. Kimball Genetics, Inc., is an independent genetic testing laboratory with a national reputation for combining the highest accuracy of testing with unparalleled turnaround time and excellent personal service. Founded in 1994 by Annette K. Taylor, M.S., Ph.D., Kimball Genetics has distinguished itself from other molecular diagnostic labs by its rapid turnaround time and unique emphasis on genetic counseling and education. Return to Press ©2004 Kimball Genetics Inc. (last updated 3/04)