- Gerstmann Straussler Scheinker syndrome
- Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
- Encephalopathy subacute spongiform Gerstmann-Straussler type
- Amyloidosis cerebral with spongiform encephalopathy
- Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking
- Cognitive dysfunction leading to bradyphrenia (slowness of thought processing) and dementia of different degrees
- Dysarthria (slurred speech)
- Nystagmus (abnormal eye movements)
- Spasticity (rigid muscle tone)
- Visual disturbances, sometimes leading to blindness
- Lack of coordination in swallowing
- Parkinsonian features (present in some families).
The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Mastrianni JA. Genetic Prion Diseases. GeneReviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1229/.
- Brown HG & Lee JM. Diseases of the central nervous system caused by prions. UpToDate. October 2014; http://www.uptodate.com/contents/diseases-of-the-central-nervous-system-caused-by-prions.
- NINDS Gerstmann-Straussler-Scheinker Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; http://www.ninds.nih.gov/disorders/gss/gss.htm.