Heredity and Genetics

Athena Diagnostics currently offers testing for HSP mutations in five different genes. The test is called the Hereditary Spastic Paraplegia Evaluation. Some insurance policies will cover some or all of the fees while others will not cover the testing.

These five genes are responsible for approximately 70% of dominantly inherited forms of HSP. Mutation in one of these genes (for dominantly inherited HSP) are also found in approximately 10% of individuals who have progressive spastic paraplegia but no previous family history. Researchers have identified 39 different genetic forms of HSP. Hopefully, analysis for additional HSP genes will become available and increase laboratory diagnosis of HSP.

Gene tests can also be used for prenatal testing. Editor’s Note: A member of our community submitted an article on gene testing. Please see Patient Forum – gene testing.

In addition, the following website is mainly written for health care providers but offers valuable information for laypeople as well – http://www.genetests.org/