Medical Research

Dr. Albert La Spada runs the world’s leading research laboratory for the study and treatment of SCA-7. Despite its rarity, Dr. La Spada works with patients all over the world. He has been studying this neuro-degenerative disease for over 25 years and is about 2 years away (partnering with IONIS Laboratories) from launching a testable treatment procedure. Dr. La Spada currently works out of University of California, Irvine and can be reached at

Genetic and Rare Disease Information Center (GARD)

Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia).[1] Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones.[2] SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner.[2] Treatment is generally symptomatic and supportive.

National Institute of Health (NIH)

Treatment of manifestations: Multidisciplinary care involves supportive treatment of: neurologic manifestations – physical and occupational therapy to help maintain mobility and function, and pharmacologic treatment to reduce symptoms; dysarthria – speech and language therapy and alternative communication methods; dysphagia – feeding therapy to improve nutrition and reduce the risk of aspiration; and reduced vision – use of low vision aids and consultation with agencies for the visually impaired.

Surveillance: Routine follow up with multidisciplinary care providers.

Agents/circumstances to avoid: Avoid: alcohol intake (especially if excessive) as it can further impair cerebellar function; foods identified by a registered dietitian as possible causes of dizziness or disorientation.

Therapies under investigation: Several ongoing clinical trials for medications used as treatment for ataxia.

Clinical Trials

In this natural history study, participants will be followed for at least five years. Because three years may be required to enroll 25 participants, this study will last up to eight years. All participants will undergo a standardized medical/ophthalmic history and a complete baseline eye examination, including non-invasive electrophysiology (e.g., electroretinography), psychophysiology (e.g., microperimetry, static perimetry), and diagnostic imaging examinations (e.g., optical coherence tomography). In addition, participants will undergo a detailed neurology exam, neuroimaging (MRI, including special sequences) and consult with speech pathology and/or other rehabilitation services, audiology, and neuropsychology.

National Ataxia Foundation

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