U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

Translational activator of cytochrome c oxidase I (TACO1) is a mitochondrial translation factor involved in mitochondria-encoded cytochrome c oxidase subunit I (MT-CO1) synthesis.1,2 Loss-of-function mutations in the TACO1 gene cause respiratory chain complex IV deficiency. Clinically heterogeneous human diseases are due to cytochrome c oxidase (COX) deficiency, ranging from Leigh syndrome to myopathy, deafness, or ataxia. Recently, 2 different TACO1 mutations have been identified in 3 families with late-onset Leigh syndrome and a leukoencephalopathy involving predominantly basal ganglia and cystic changes.3,4 Here, we report a subject carrying a novel homozygous truncating mutation in the TACO1 gene and presenting an adult-onset slowly progressive spastic paraparesis with cognitive impairment and a subcortical U-fiber leukoencephalopathy.

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