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

Giacomo Sferruzza; Andrea Del Bondio; Andrea Citterio; Paolo Vezzulli; Simone Guerrieri; Marta Radaelli; Filippo Martinelli Boneschi; Massimo Filippi; Francesca Maltecca; Maria Teresa Bassi; Marina Scarlato

doi:10.1212/nxg.0000000000000573

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Massimo Filippi

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

Article 2021 en

Authors

GS
Giacomo Sferruzza
AB
Andrea Del Bondio
AC
Andrea Citterio

Abstract

1 min read

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. 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. 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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U-Fiber Leukoencephalopathy Due to a Novel Mutation in the <i>TACO1</i> Gene

Abstract

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U-Fiber Leukoencephalopathy Due to a Novel Mutation in the <i>TACO1</i> Gene

Abstract

Discussion(0)

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