Bill Nye is back in his lab with NAF and Biogen—breaking down the science of Friedreich Ataxia in a new video series. WATCH NOW
A collection of resources for individuals and families affected by Spinocerebellar Ataxia Type 1 (SCA1).
SCA1 is caused by a genetic mutation that is passed on from parents to their children. In SCA1, 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 SCA1.
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Presented by Sharan Srinivasan, MD, PhD
This webinar gave an overview of the causes and symptoms of the SCA1, the typical diagnostic journey for those affected, and what to expect for clinical care.
Presented by James Orengo, MD, PhD
This webinar taught us how SCA1 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 SCA1 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 SCA1 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.
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.
SCA1 is one of the more common types of Spinocerebellar Ataxias. Approximately 1-2 in 100,000 people will develop SCA1, but the frequency varies considerably based on geographical location and ethnic background
The first symptoms are usually incoordination of the hands and trouble with balance when walking. In fact, the word Ataxia means incoordination. As SCA1 progresses over a period of several years, difficulty swallowing and slurred speech are common. In some cases, individuals develop additional symptoms such as neuropathy (loss of feeling and reflexes in the feet or legs), spasticity, weakness, eye movement disorders or memory problems.
In most cases, from the onset of symptoms the duration of the disease varies from 10-30 years. The onset of symptoms in SCA1 is usually in adulthood, with average age being in the mid-30’s. When the onset of symptoms is before age 20, symptoms in addition to Ataxia occur more frequently. In cases of very early onset (before the age of 13), the disease tends to be more severe and progresses much more rapidly.
SCA1 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 like SCA1 occur when one of the body’s 20,000 genes does not work properly. (Genes are stretches of DNA, the genetic material, within the cells of our bodies that contain instructions for every feature a person inherits from his or her parents.)
SCA1 is an autosomal dominant disease which means that individuals of either sex are as equally likely to inherit the gene and develop the disease. Each child of a person with SCA1 has a 50 percent chance of inheriting the SCA1 gene. The SCA1 gene passes directly from one generation to the next without skipping generations.
A neurologic examination can determine whether a person has symptoms typical of SCA1. A genetic test can accurately detect the presence of the abnormal gene that causes SCA1. A neurologist is often the most helpful specialist at determining the cause of symptoms that might be indicative of SCA1. It is important to rule out other diseases and to consider other forms of Ataxia.
When SCA1 is suspected, DNA-based testing is now available to confirm the diagnosis as well as to predict the severity of the disease. DNA tests involve analysis of a gene located on the 6th chromosome (each individual 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 SCA1, a gene mutation of the sixth chromosomes results in extra copies of a series of nucleotides designated by the letter C-A-G. The more extra copies of this nucleotide series a person has, the more severe his or his disease is likely to be.
NAF is offering free virtual genetic counseling and genetic testing for individuals who are at-risk for SCA1. 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 SCA1 are eligible. If you are interested in participating, please contact NAF’s Research Manager, Kelsey Trace at research@ataxia.org.
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 SCA1.
BDNF stands for Brain-derived neurotrophic factor. BDNF is a protein found in the brain that belongs to the group of neurotrophic proteins. Neurotrophic means that these proteins promote the survival Read More…
Written by Alexandra Putka Edited by Dr. Pragya Goel Feeling tired? You’re not alone. Fatigue is a common symptom of Spinocerebellar ataxias and affects quality of life. Spinocerebellar ataxias (SCAs) Read More…
Written by Christina PengEdited by Larissa Nitschke, PhD Ever since the CAG expansion of the Ataxin-1 (ATXN1) gene has been identified as the cause of spinocerebellar ataxia type 1 (SCA1), Read More…
Written by Marija Cvetanovic, PhDEdited by Spyros Petrakis, PhD Researchers from Yale provide evidence that glial cells, in particular Bergmann glia in the cerebellum, may contribute to disease pathogenesis in Read More…
Written by Alexandra Putka Edited by Dr Hannah K Shorrock Scientists characterize SCA1, 2, 3, & 6 disease progression, finding that symptoms change most rapidly in the first 10 years Read More…
Written by Tala Ortiz Edited by Dr. Larissa Nitschke Repeat-associated non-AUG (RAN) translation in CAG repeat expansion diseases is toxic to cells and causes them to die. The Jain group Read More…
