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Familial CJD (fCJD) is the second most common type of CJD, accounting for approximately 10-15% of cases worldwide. This hereditary form of CJD is caused by a genetic mutation in the prion protein gene, which causes a change in the amino acid sequence of the normal prion protein. This change is believed to cause the mutated prion protein to take on the scrapie prion protein conformation. DNA extracted from blood or brain tissue obtained at biopsy or autopsy may be used to test for mutations in persons with suspected fCJD. Currently, there are over 55 mutations of the prion gene that are known to cause fCJD and other familial prion diseases in humans, including Fatal Familial Insomnia (FFI) and Gerstmann -Sträussler-Scheinker disease (GSS). (For details see Kong et al. Cold Springs Harbor Laboratory Press. 673. 2004). For more information on testing for fCJD, FFI, and GSS, please contact our offices at 216-368-0587.
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