A collection of resources for individuals and families affected by Spinocerebellar Ataxia Type 2 (SCA2).
SCA2 is caused by a genetic mutation that is passed on from parents to their children. In SCA2, the impairment of nerve cells and nerve fibers causes degeneration of the cerebellum (the coordination center of the brain) and related brain regions. 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 SCA2.
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Presented by Giulia Coarelli, PhD
This webinar gave an overview of the causes and symptoms of SCA2, the typical diagnostic journey for those affected, and what to expect for clinical care.
Presented by Sokol Todi, PhD
This webinar taught us how SCA2 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 SCA2 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 SCA2 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.
SCA2 is one of the more common types of Spinocerebellar Ataxias. SCA2 is about twice as common as SCA1 which appears in approximately 1 to 2 people in 100,000. (The ratio varies based on geographical location and ethnic background.) Overall, it accounts for about 13 percent of the autosomal dominant Cerebellar Ataxias.
SCA2 is very similar to SCA1 and SCA3 in that the first symptom is usually Ataxia—incoordination of the hands and trouble with balance when walking. (The
word ataxia means incoordination.) However, in addition to Ataxia, early symptoms of SCA2 often include neuropathy (loss of feeling and reflexes) and very slow eye movements. In some people with SCA2, muscle cramps and tremor also appear early in the disease. As SCA2 progresses over a period of several years, difficulty swallowing and indistinct speech are common. Other symptoms might include spasticity, weakness, or memory troubles. SCA2 may also cause a form of Parkinson’s disease.
The onset of symptoms in SCA2 typically occurs when a person is in their thirties. In most cases, the duration of symptoms is from 10 to 15 years. However, when the onset of symptoms occurs before the age of 20, the disease tends to progress much more rapidly.
SCA2 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 the body’s 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.)
SCA2 is an autosomal dominant disorder. This means that individuals of either sex are as 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 SCA2 has a 50 percent chance of inheriting the gene that causes it.
A neurologic examination can determine whether a person has symptoms typical of SCA2, and a genetic test can accurately detect the presence or absence of the abnormal gene that causes it. A neurologist is often the most knowledgeable specialist in determining the cause of symptoms and making the diagnosis of SCA2. It is important to rule out other causes of symptoms. When SCA2 is suspected, DNA-based testing is available to confirm the diagnosis and to help determine the severity of the disease. DNA tests involve analysis of a gene located on the 12th chromosome (each person has 23 pairs of chromosomes). Genes are made up of substances known as nucleotides linked together in chains. Each nucleotide is identified by a letter. In SCA2, a gene mutation on the 12th chromosome results in extra copies of a series of nucleotides identified by the letters C-A-G. The more extra copies there are of this series, the more severe the disease is likely to be.
NAF is offering free virtual genetic counseling and genetic testing for individuals who are at-risk for SCA2. Genetic testing to confirm a diagnosis of Ataxia can be an incredibly useful tool for persons with a family history of Ataxia. It can help inform decisions around family planning, healthcare/lifestyle choices, and professional/financial planning. Genetic testing is also often a requirement for participation in clinical trials for SCAs. Individuals who have a direct relative who has genetically tested positive for SCA2 are eligible. If you are interested in participating, please contact NAF’s Research Manager, Kelsey Trace at email@example.com.
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 SCA2.
Written by Dr Hannah K Shorrock Edited by Dr. Maria do Carmo Costa Neurofilament light chain predicts cerebellar atrophy across multiple types of spinocerebellar ataxia A team led by Alexandra Read More…
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