The spinocerebellar ataxias (SCAs) are a large group of hereditary diseases associated with loss of coordination and fine motor skills. This family of diseases is characterized by degeneration in the part of the brain that controls the coordination of movement (cerebellum). People affected by Ataxia may experience problems with using their fingers and hands, arms and legs, and with walking, speaking or moving their eyes. Ataxia affects people of all ages. Age of symptom-onset can vary widely, from childhood to late-adulthood.
SCA diseases are classified on the inheritance pattern of the disease and if known, the disease-causing mutation. Many forms of ataxia are caused by repeat expansion mutations in an underlying gene. There are many different genetic types of SCAs (over 50 and still growing).
Our Research on SCAs
Our research on SCA involves identifying and understanding the disease mechanism(s) that cause these diseases, including the growing number that show accumulation of toxic RAN proteins. As the genetic mutation that causes the disease is often unknown to the patient, we seek to identify the type of ataxia through clinical, pathology and molecular analyses. We are also pursuing therapeutic strategies that may be used across a large number of SCAs.
Get Involved with Research
If you would like information about any of the opportunities listed below, please contact Deborah Morrison.
We are currently recruiting for a variety of trials and studies. Click the link below to learn more about our work and to see if you’re eligible.
Patients with neurodegenerative diseases being treated at the Fixel Institute may participate in these ongoing studies. The goal is to collect biospecimens to study in the lab.
Are you a passionate student or post-doc looking making to an impact on Neurogenetic research at the University of Florida? Candidates are encouraged to contact individual CNG faculty members to inquire about research opportunities in the CNG.