Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome
Jaya Nataraj,
Jennifer A. MacLean,
Jordan Davies
et al.
Abstract:IntroductionMitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is a rare inherited metabolic condition caused by MECR gene mutations. This gene encodes a protein essential for fatty acid synthesis, and defects cause progressively worsening childhood-onset dystonia, optic atrophy, and basal ganglia abnormalities. Deep brain stimulation (DBS) has shown mixed improvement in other childhood-onset dystonia conditions. To the best of our knowledge, DBS has not been investigated a… Show more
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