Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
GSSD; Gerstmann Straussler Scheinker syndrome; Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system;
Congenital and Genetic Diseases; Nervous System Diseases
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
ataxia, including clumsiness, unsteadiness, and difficulty walking
- Cognitive dysfunction leading to bradyphrenia (slowness of thought processing) and
dementiaof 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).
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in adulthood
[ more ]
Absent tendon reflexes
Slowness of movements
[ more ]
Degeneration of cerebellum
[ more ]
Difficulty articulating speech
Inability to coordinate movements when walking
|Impaired smooth pursuit||0007772|
|Lower limb muscle weakness||
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ]
[ more ]
Involuntary muscle stiffness, contraction, or spasm
Instability or lack of coordination of central trunk muscles
- Characteristic signs and symptoms
- Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve
cellsand the progressive symptoms of the disease)
family historyconsistent with autosomal dominantinheritance
- Genetic test showing a disease-causing
mutationof the PRNP gene(establishes and confirms the diagnosis).
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases.
The National Prion Disease Surveillance Center is charged with collecting and recording all cases of prion disease in the US. They should be notified regarding all cases of suspected prion disease.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Creutzfeldt-Jakob Disease Foundation, Inc (CJD Foundation)
3610 W. Market St.
Akron, OH 44333
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Gerstmann-Straussler-Scheinker disease. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Gerstmann-Straussler-Scheinker disease. Click on the link to view a sample search on this topic.
- Mastrianni JA. Genetic Prion Diseases. GeneReviews. January 2 2014 (retired page); https://www.ncbi.nlm.nih.gov/books/NBK1229/.
- Brown HG & Lee JM. Diseases of the central nervous system caused by prions. UpToDate. October 2014; https://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; https://www.ninds.nih.gov/Disorders/All-Disorders/Gerstmann-Straussler-Scheinker-Disease-Information-Page.
- PRNP. Genetics Home Reference. January 2014; https://ghr.nlm.nih.gov/gene/PRNP.