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The image shows a rendering of a human brain viewed from a lateral perspective with the cerebellum, highlighted in yellow and orange, is situated at the bottom part of the brain where the cerebrum connects with the brainstem.
Revealing the Mutation Behind a Rare Neurological Disease
After 20 years, scientists studying patients with cerebellar degeneration discovered a mutation that disrupts autophagy.
Revealing the Mutation Behind a Rare Neurological Disease
Revealing the Mutation Behind a Rare Neurological Disease

After 20 years, scientists studying patients with cerebellar degeneration discovered a mutation that disrupts autophagy.

After 20 years, scientists studying patients with cerebellar degeneration discovered a mutation that disrupts autophagy.

ataxia

Illustration of a glowing orange DNA double helix with a blurry blue brain in the background.
A Brain Breakthrough 25 Years in the Making
Aparna Nathan, PhD | May 14, 2024 | 5 min read
New sequencing technologies unmask a mutation that sheds new light on ataxia.
artistic representation of jumping gene
Jumping Genes Can Cause Movement Disorder: Study
Sophie Fessl, PhD | Sep 13, 2022 | 3 min read
Mice with overactive LINE-1 retrotransposons in their brains exhibit movement difficulties, suggesting the genetic elements may play a role in ataxia in humans. 
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