A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

Recessive mutations in the 3‐hydroxyisobutyryl‐CoA hydrolase gene (HIBCH) are associated with a rare neurodegenerative disease that affects the basal ganglia. Most patients die during infancy or early childhood. Here we describe 5 adolescent and adult patients from 2 unrelated families, who presented with a movement disorder and MRI features suggestive of Leigh syndrome.

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