A collection of resources for individuals and families affected by Spinocerebellar Ataxia Type 6 (SCA6).
SCA6 is caused by a genetic mutation that is passed on from parents to their children. For complete information about symptoms, diagnosis, and treatment of Ataxia, visit our What is Ataxia? page. This page contains NAF’s resources that are specific to SCA6.
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Presented by Anoopum Gupta, MD, PhD
SCA6 or Spinocerebellar Ataxia 6 is a rare neuromuscular disease. This webinar gave an overview of the causes and symptoms of the disease, the typical diagnostic journey for those affected, and what to expect for clinical care.
Presented by Alanna Watt, PhD
This webinar taught us how SCA6 is studied and gave an overview of the current state of research and drug development for the disease.
This is a visual tool created to show the progress of all SCA6 therapies that are currently being developed. Along the vertical axis, treatments are grouped by their mechanism, or how the drug works. The horizontal axis shows the stage of research where the drug is in development. Phases 1 through 3 involve clinical trials with human participants. Visit the SCA6 Pipeline page for more details.
Participating in a research study or clinical trial is one way to take an active role in furthering understanding and treatment of Ataxia. It is also a way to get access to new treatment options before they are widely available. To find studies that are enrolling patients, visit our Help Develop New Treatments page.
Spinocerebellar Ataxia type 6 (SCA6) is one type of Ataxia among a group of inherited diseases of the central nervous system. It is one of the CAG repeat/polyglutamine disorders. SCA6 is caused by a defect in a gene that makes a protein called a transcription factor, that regulates expression of other genes in the cerebellum. The genetic defect in this protein results in degenerations of primarily Purkinje cells of the cerebellum.
The frequency of SCA6 varies considerably according to geographical area. For instance, SCA6 represents only about 2 percent of the cases of dominant spinocerebellar Ataxia in Italy, but it has been shown to represent as high as 31 percent in Japan. In the United States, SCA6 represents about 15 percent of all cases of dominant hereditary Ataxia.
Like many other forms of Ataxia, SCA6 is marked by incoordination. In fact, the word Ataxia means incoordination. In most cases, the first symptoms of SCA6 are unsteady gait, stumbling, and imbalance. In about 10 percent of the cases, the first symptom is unclear speech (dysarthria). As the disease progresses, incoordination of both upper and lower limbs, tremors, and slurred speech will eventually be present in everyone with SCA6. Double vision or other visual disturbances occur in about 50 percent of the people with SCA6. In later stages, difficulty swallowing (dysphagia) is common.
Age at onset of SCA6 symptoms ranges from 19 to 71 years old. The severity of symptoms also varies considerably, even within families. Most often, it is a late onset disorder with symptoms first occurring between 43 and 52 years of age. It usually progresses slowly. Lifespan generally is not shortened by the disease.
SCA6 is a genetic disorder which means that it is an inherited disease. The abnormal gene responsible for this disease is passed along from generation to generation by family members who carry it. Genetic disease like SCA6 occur when one of the body’s 20,000 genes does not work properly. (Gene are microscopic structures within the cells of our bodies that contain instructions for every feature a person inherits from his or her parents.)
SCA6 is an autosomal dominant disease which means that individuals of either sex are equally likely to inherit the gene and develop the disease, and the gene passes directly from one generation to the next without skipping generations. Each child of a person with SCA6 has a 50 percent chance of inheriting the gene that causes SCA6.
Gene tests can be performed for diagnostic purposes to determine what kind of Ataxia is within a person or family. Genetic testing also can be done, in some circumstances, even before there are symptoms to determine whether a person carries the abnormal gene or genes that cause Ataxia. This is called predictive or presymptomatic testing. A gene test also can be used to determine whether a fetus has an abnormal Ataxia gene. This is called prenatal testing. Anyone who is considering a predictive or prenatal test should consult with a genetic counselor to discuss the reasons for the test, the possible outcomes and how those outcomes might affect the person emotionally, medically, or socially.
A neurologic examination can determine whether a person has symptoms typical of SCA6, and DNA-based testing can accurately detect the presence of the
abnormal gene that caused it. A neurologist is often the most helpful specialist in recognizing symptoms and diagnosing the disease that cause Ataxia.
SCAsource provides Ataxia research news, directly from researchers to the Ataxia community. Visit SCAsource to see their full collection. Here is a collection of articles about SCA6.
Written By Dr. David Bushart Edited by Celeste Suart The RISCA study will help researchers design smarter, more efficient clinical trials by teaching us about the very early stages of Read More…