Gerstmann-Straussler-Scheinker disease

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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

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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Adult onset	Symptoms begin in adulthood	0003581
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Apraxia		0002186
Areflexia	Absent tendon reflexes	0001284
Autosomal dominant inheritance		0000006
Bradykinesia	Slow movements Slowness of movements [ more ]	0002067
Cerebellar atrophy	Degeneration of cerebellum	0001272
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Depressivity	Depression	0000716
Dysarthria	Difficulty articulating speech	0001260
Emotional lability	Emotional instability	0000712
Gait ataxia	Inability to coordinate movements when walking	0002066
Hyperreflexia	Increased reflexes	0001347
Impaired smooth pursuit		0007772
Limb ataxia		0002070
Lower limb muscle weakness	Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ]	0007340
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Myoclonus		0001336
Neurofibrillary tangles		0002185
Parkinsonism		0001300
Perseveration		0030223
Personality changes	Personality change	0000751
Psychosis		0000709
Rapidly progressive	Worsening quickly	0003678
Rigidity	Muscle rigidity	0002063
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Tremor		0001337
Truncal ataxia	Instability or lack of coordination of central trunk muscles	0002078
Weight loss		0001824

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

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

Prognosis Prognosis

People with Gerstmann-Straussler-Scheinker disease (GSS) survive for an average of 5 years after diagnosis. The range is 2 to 10 years. In the late stages, people develop mobility problems usually due to severe ataxia. They may also have slurred speech and trouble swallowing.^[1]^[3]

Last updated: 7/11/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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 related to Gerstmann-Straussler-Scheinker disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

Organizations Organizations

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.

Organizations Supporting this Disease

Creutzfeldt-Jakob Disease Foundation, Inc (CJD Foundation)
3610 W. Market St.
Suite 110
Akron, OH 44333
Toll-free: 1-800-659-1991
Fax: +1-234-466-7077
E-mail: help@cjdfoundation.org
Website: https://cjdfoundation.org

Do you know of an organization? We want to hear from you.

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.

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

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.

GARD Answers GARD Answers

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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

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