GSS is part of a group of diseases called transmissible spongiform encephalopathies. These diseases are caused by prions, which are a class of pathogenic proteins that are resistant to proteases. These prions then form clusters in the brain, which are responsible for the neurodegenerative effects seen in patients. The P102L mutation, which causes a substitution of proline to a leucine in codon 102, has been found in the prion protein gene (PRNP, on chromosome 20) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease.
Gerstmann–Sträussler–Scheinker syndrome
Scheie syndrome
Hapnes Boman Skeie syndrome
Ruzicka Goerz Anton syndrome
Qazi–Markouizos syndrome
Hurler–Scheie syndrome
Zieve's syndrome
Gerstmann syndrome