Research may open the way to developing treatments for rare movement disorders

Spinal cerebellar ataxia 6 (SCA6) is an inherited neurological condition that has a debilitating effect on motor coordination. The scarcity of SCA6 affects about 1 in 100,000 people, and has made it attract only limited attention from medical researchers. To date, there is no known cure and there are only limited treatment options.

Now, a team of McGill University researchers who specialize in SCA6 and other forms of ataxia, has published findings that not only provide hope for SCA6 patients, but may also open the way to developing treatments for other movement disorders.

Exercise on the pill

In mice with SCA6, McGill’s team, led by biology professor Alanna Watt, found that exercise restores the health of cells in the cerebellum, the part of the brain involved in SCA6 and other ataxias. The researchers found that the improvement was caused by increased levels of brain-derived neurotrophic factor (BDNF), a substance naturally occurring in the brain that supports the growth and development of neurons. More importantly for patients with movement disorder, for whom exercise may not always be possible, the team showed that a drug that mimics the action of BDNF can work just as well, if not better, for exercise.

Early intervention is crucial

The researchers also discovered that BDNF levels in SCA6 mice decreased before movement difficulties began to appear. They found that the drug stopped the decline only if it was given before the onset of the apparent symptoms.

This is not something we really know about SCA6. If there are these early changes in the brain that people don’t even know about, they tend to call for more genetic testing and early intervention for these rare diseases.”

Anna Cook, lead author, Ph.D. Candidate in Professor Watt’s lab


Journal reference:

Cook, A.A., et al. (2022) Activation of TrkB-Akt signaling rescues deficiencies in a mouse model of SCA6. science progress.

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