Identification of Biomarkers in Spinocerebellar Ataxia 3

Participants will undergo a SARA exam, a lumbar puncture and a blood draw. A lumbar puncture is a procedure in which a small amount of the spinal fluid that surrounds the brain and spinal cord is removed by inserting a needle in the lower back. Participants will be asked not to eat or drink anything (water is acceptable) for at least 6 hours before the lumbar puncture visit. For this procedure, participants will be positioned lying on their side and curled up in a ball, or sitting up and bent forward, whichever is easier. Cushions will be used to enhance comfort. The lower back region will be cleaned and disinfected with an antiseptic iodine solution. The doctor will inject local anesthetic (lidocaine, 1%) into the skin of the lower back. This may produce a transient, mild burning sensation. A very small needle will be introduced into the skin and moved into fluid-filled space around the spinal nerves coming from the spinal cord. This may produce a pressure sensation. Approximately 2 tablespoons approximately 30 ml) of fluid will be collected. The needle will be removed and a band-aid applied over the needle insertion site. Participants will be asked to remain stationary, lying on flat for about ½ hour on a bed in the research clinic. Participants will be given something to eat and drink before leaving. Strenuous physical activity should be avoided for the next 24 hours. This includes lifting, bending, doing housework and gardening, or doing exercise such as jogging or bicycle riding. The SARA (Scale for the Assessment and Rating of Ataxia) exam is a clinical scale that assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, fingerchase test, nose-finger test, fast alternating movements and heel-shin test, and takes approximately 15 minutes to complete.

The study also involves a single collection of about 3.5 tablespoons (approximately 50 ml) of blood. This blood draw may take place during a regularly scheduled visit to the neurology clinic or at the research appointment.

Inclusion criteria

•Confirmed Genetic Testing of SCA3 or Healthy Volunteers

Exclusion criteria

• People with:

• unstable thyroid
• unstable intestinal/stomach issues
• unstable heart issues
• unstable liver issues
• unstable kidney issues
• unstable lung issues
• unstable hormone issues
• unstable mental disorders at screening
• a tumor or evidence of having a tumor
• a chronic infection or any severe acute infection within 3 months prior to screening
• People who:

• Take anti-coagulants and NSAIDs
• Have started any investigational medications in the last month
• Women who are pregnant or breast feeding