Professor Elizabeth Ehrenfeld
genetic mutation, cerebellar disease, Brazil
This poster project is a literature review that examines the causes, effects, and research being done to treat and prevent some forms of Ataxia. Ataxia is a disorder of the nervous system that causes tremors, and problems with walking, balance, memory, and mood disorders. There are many forms of Ataxia, all affecting various genes, but all have the devastating effect of the loss of the ability to move around without aid. Mental ability is not affected, yet the patient loses the ability to control their body. Most forms are caused by genetic mutations. For example, Fragile X associated tremor/ataxia syndrome (FXTAS) is caused by a mutation of the FMR-‐1 gene. The base triplet CGG repeats 200-‐4000 times in people with the disease, and 5-‐50 times in normal people. Another example is Spinocerebellar Ataxia, which has been tied to many different genes, and is the focus of this project. There is no known cure for this type of ataxia, which is considered a progressive and irreversible disease. Treatments are limited to alleviating symptoms and not fixing the disease itself. Sleep disorders, depression, and joint pain are all side effects that can be treated, but once the disease progresses to the point where the patient can’t perform daily tasks, even a rehabilitation therapist cannot help them. Stem cell research, which is still in its early stages, is being looked at as a possible cure for more well-‐known cerebellar diseases like Parkinson’s and hopefully, the cure will help treat diseases like Spinocerebellar Ataxia too.
Simpson, Anthony, "How Spinocerebellar Ataxia Affects the Body and the Family" (2014). Thinking Matters Symposium Archive. 31.