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Overview |
Gerstmann-Sträussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder caused by prion (proteins) that misfold in the brain, primarily in the cerebellum. |
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Symptoms |
Typical early symptoms: ataxia (gait changes), balance problems, difficulty walking, incoordination. Sometimes Parkinson's-like symptoms. May also include: dysarthria (difficulty speaking), nystagmus (movement of the eyes), hearing problems, spasticity, visual disturbances including double vision, and dementia. |
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Type |
Genetic |
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Occurrence |
At least 56 known families |
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Duration |
2-10 years |
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Age of onset |
Midlife: 30s, 40s, 50s |
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Diagnosis |
Clinical examination, family history, genetic testing, brain MRI, spinal fluid testing (RT-QuIC) (Contact the CJD Foundation for specifics) |
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Mutations |
There are several mutations that cause GSS. The most common mutations include P102L and A117V. |
Resources:
- Gerstmann-Sträussler-Scheinker disease (GSS): A teleconference with Michael Geschwind, M.D., Ph.D., UCSF
- National Institute of Neurological Disorders and Stroke - Gerstmann-Straussler-Scheinker Disease
- Merck Manual - Gerstmann-Sträussler-Scheinker Disease
- Inherited prion disease, MRC Prion Unit http://www.prion.ucl.ac/uk/clinic-services/information/inherited-prion-disease/
- Genetic Prion Diseases, GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1229/)
- Kong Q et al. Inherited Prion Disease, In: Prion Biology and Diseases, Ed. Stanley Prusiner, Cold Spring Harbor Laboratory Press: 2004, pp. 673-775
- Research study by Julie Moreno, Ph.D., Colorado State University, "The Role of Cellular Chaperones and the Unfolded Protein Response in GSS Syndrome," presented at the CJD Foundation Annual Conference, 2015
- We suggest the book, "Mercies in Disguise: A Story of Hope, a Family's Genetic Destiny, and the Science That Rescued Them" by Gina Kolata
- Amanda’s Story