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Gina Kolata: Amanda Baxley

Introduction

Amanda Baxley figures prominently in Gina Kolata's Mercies in Disguise. Amanda finds that her family carries a gene that can cause a rare and devastating disease to develop. This disease is known as Gerstmann-Straussler-Scheinker  and is a rare prion disease caused by a gene that promotes the improper folding of a particular protein. Amanda and her family bravely navigate the moral complexities involved in learning that you carry a gene for such a lethal disease.

To find out more listen to Amanda's presentation at the  2016 Crutzfeldt-Jakob Disease 2016 Family Workshop 

 

Watch Gina Kolata and Amanda Baxley speak about Mercies in Disguise here. C-SPAN Book TV

 

What are Prion diseases?

From The CDC, "Prion diseases or transmissible spongiform encephalopathies (TSEs) are a family of rare progressive neurodegenerative disorders that affect both humans and animals. They are distinguished by long incubation periods, characteristic spongiform changes associated with neuronal loss, and a failure to induce inflammatory response.

The causative agents of TSEs are believed to be prions. The term “prions” refers to abnormal, pathogenic agents that are transmissible and are able to induce abnormal folding of specific normal cellular proteins called prion proteins that are found most abundantly in the brain. The functions of these normal prion proteins are still not completely understood. The abnormal folding of the prion proteins leads to brain damage and the characteristic signs and symptoms of the disease. Prion diseases are usually rapidly progressive and always fatal." 

 

 

More About Gerstmann-Straussler-Scheinker Disease

"Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease. Prion diseases are a group of conditions that affect the nervous system. The main feature of GSS is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia. Signs and symptoms generally develop between ages 35 and 50 years and may include weakness in the legs, poor reflexes, abnormal sensations, progressive ataxia, cognitive dysfunction, slurred speech, and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis. It is caused by changes (mutations) in the PRNP gene and inheritance is autosomal dominant." From the Genetic and Rare Diseases Information Center

Other Prion Diseases

Some Library Resources about Prion Diseases