Gerstmann-Straussler-Scheinker disease

Información en español Title

Other Names:

GSSD; Gerstmann Straussler Scheinker syndrome; Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system; GSSD; 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; Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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. Treatment is based on the signs and symptoms present in each person.^[1]^[2]

For information on other prion diseases, please visit GARD's Creutzfeldt-Jakob disease and fatal familial insomnia pages.

Last updated: 7/11/2016

Symptoms Symptoms

Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between the ages of 35 and 50 years. Affected people may experience:^[1]^[2]^[3]

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
Deafness
Parkinsonian features (present in some families).

Last updated: 7/11/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Adult onset	-
Aggressive behavior	-
Apraxia	-
Areflexia	-
Autosomal dominant inheritance	-
Bradykinesia	-
Cerebellar atrophy	-
Dementia	-
Depression	-
Dysarthria	-
Emotional lability	-
Gait ataxia	-
Hyperreflexia	-
Impaired smooth pursuit	-
Limb ataxia	-
Lower limb muscle weakness	-
Memory impairment	-
Myoclonus	-
Neurofibrillary tangles	-
Parkinsonism	-
Perseveration	-
Personality changes	-
Phenotypic variability	-
Psychosis	-
Rapidly progressive	-
Rigidity	-
Spasticity	-
Tremor	-
Truncal ataxia	-
Weight loss	-

Last updated: 9/1/2016

Cause Cause

Gerstmann-Straussler-Scheinker disease (GSS) is caused by certain changes (mutations) in the PRNP gene.^[1] PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons (nerve cells). This loss of brain cells leads to the signs and symptoms of GSS.^[4]

Last updated: 7/11/2016

Inheritance Inheritance

Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner.^[2] Every cell of the body has two copies of a gene. In autosomal dominant disorders, to be affected, a person needs a change (mutation) in only one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no family history of the disorder. A person with GSS has a 50% chance with each pregnancy of passing along the mutated gene to his or her child.

Last updated: 7/11/2016

Diagnosis Diagnosis

The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following:^[1]

Characteristic signs and symptoms
Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease)
A family history consistent with autosomal dominant inheritance
Genetic test showing a disease-causing mutation of the PRNP gene (establishes and confirms the diagnosis).

Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.^[1]

Last updated: 7/11/2016

Testing Resources

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.

Treatment Treatment

The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression.^[3]^[1]

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.

Last updated: 7/11/2016

Management Guidelines

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.

Prognosis Prognosis

Unfortunately, the long-term outlook (prognosis) for people with Gerstmann-Straussler-Scheinker disease (GSS) is poor. On average, people affected by the condition survive approximately 60 months (range 2 to 10 years) following diagnosis. In the late stages, affected people are usually bedridden due to severe ataxia, unable to eat because of lack of coordination in swallowing, and unable to communicate because of the profound dysarthria (slurred speech).^[3]^[1] Current studies are trying to find an effective treatment which could result in a better prognosis.

Last updated: 7/11/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Gerstmann-Straussler-Scheinker disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Patient Registry

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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.

Where to Start

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.

In-Depth Information

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.

News & Events News & Events

NCATS Co-Sponsored Conferences

Third Genome Dynamics in the Neurosciences Conference Sunday, July 18, 2010 - Thursday, July 22, 2010
Location: The Hilton Metropole, Brighton, England
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.

Contact: Dr. Danilo A. Tagle, NINDS(301) 496-5745tagled@mninds.nih.gov

Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
- Agenda ( - 42KB)
- Speakers ( - 47KB)
- Summary ( - 13KB)

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I may be at-risk to develop Gerstmann-Straussler-Scheinker disease. Is there a test that can be performed to provide me with a definitive diagnosis, even if I don't currently have symptoms? See answer

References References

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.
PRNP. Genetics Home Reference. January 2014; http://ghr.nlm.nih.gov/gene/PRNP.