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A collection of resources for individuals and families affected by Spinocerebellar Ataxia Type 8 (SCA8).
SCA8 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 SCA8.
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Presented by Odinachi Oguh, MD
SCA8 or Spinocerebellar Ataxia Type 8 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 Hannah Shorrock, PhD
This webinar taught us how SCA8 is studied and gave an overview of the current state of research and drug development for the disease.
NAF offers webinars on many topics to help you live better with Ataxia. Visit www.ataxia.org/webinars to find other helpful presentations.
This is a visual tool created to show the progress of all SCA8 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 SCA8 Pipeline page for more details.
Please note that a drug’s status is subject to change. Please visit clinicaltrials.gov for the most current information available for specific therapies. Detailed information is available for some of the drugs listed.
Spinocerebellar Ataxia type 8 (SCA8) is one type of Ataxia among a group of inherited diseases of the central nervous system. As in other inherited Ataxia, SCA8 is the result of genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain).
Typically, balance and coordination problems (Ataxia) are noticed first. Often there is accompanying muscle spasticity, drawn-out slowness of speech, and reduced vibrations sense. As the disease progresses over a period of several years, difficulty swallowing and other symptoms are experienced.
Although the disease onset is typically in adulthood, the age of onset can range from one year to more than 65 years. The progression is usually over decades regardless of the age of onset. Lifespan is typically not shortened.
SCA8 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 diseases occur when one of the bodies 20,000 genes does not work properly. Genes are microscopic structures within the cells of our bodies that contain instructions for every feature a person inherits from his or her parents.
Each person has 23 pairs of chromosomes with each chromosome containing two strands or chains of DNA. There are thousands of genes on each strand of DNA. Each gene is made up of substance known as nucleotides linked together in chains.
Each nucleotide is identified by a letter. The gene responsible for SCA8 is located on Chromosome 13. In SCA8, the gene mutation results in extra copies of a series of nucleotides identified by the letters C-T-G on the top strand of DNA and C-A-G on the bottom DNA strand.
SCA8 is more complex genetically than other SCAs in that it can appear to be dominant, recessive, or sporadic. A hereditary Ataxia is considered dominant if only one copy of the defective gene needs to be inherited in order to develop the disease. In a recessively inherited Ataxia, two copies of the defective gene (one from each parent) are required to develop the disease. In cases of sporadic hereditary Ataxia, there is no known family history of the disease. SCA8 acts like a dominant Ataxia in that a person needs to inherit only one copy of the defective gene in order to develop the disease. However, SCA8 is different from other dominant forms of Ataxia because the SCA8 mutation has “reduced penetrance”. This means that not everyone that inherits the C-T-G / C-A-G expansion mutation will go on to develop the disease. The reduced penetrance means that SCA8 patients may be the only member of their families to develop symptoms of the disease even though others in the family may also carry the gene.
A neurologist is often the most helpful specialist in recognizing symptoms and diagnosing the diseases that cause Ataxia. Initially, a neurologic examination can determine whether a person has symptoms typical of one of the SCAs. DNA-based testing can determine the presence or absence of the abnormal gene that causes SCA8. However, the nature of the SCA8 gene makes the diagnosis more complex than in other SCAs. Research indicates that C-T-G/C-A-G repeat determines whether or not a person will develop Ataxia. People with fewer than 50 C-T-G/C-A-G repeats on the SCA8 gene tend not to develop the disease, while those with approximately 80 to 1300 or more C-T-G/C-A-G repeats are at risk of getting the disease.
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 SCA8.
Written by Dr. Hannah K ShorrockEdited by Dr. Larissa Nitschke Differences in the lifetime risk of developing SCA8 are associated with the presence of interruptions in the ATXN8 repeat expansion. Read More…
Riluzole, often sold under the trade name Rilutek, is a medication used for the treatment of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease that mainly affects neurons Read More…
Written by Dr. Amy Smith-Dijak Edited by Logan Morrison Basic biology helps identify a new treatment for ataxia Drug design doesn’t always have to start with a blank slate. Sometimes Read More…
Written by Dr. David Bushart Edited by Dr. Sriram Jayabal How can employment be made more accessible for ataxia patients? What barriers exist? A study of workers and non-workers with Read More…
Written by Dr. Sriram Jayabal Edited by Dr. David Bushart Eye movement deficits occur ubiquitously in spinocerebellar ataxias, even at early disease states, highlighting their clinical importance. Imagine the different Read More…
In many diseases caused by repeat expansion mutations in the DNA, harmful proteins containing repetitive stretches are found to build up in the brain. The repeat expansion mutation, when translated Read More…
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