Clinical and neuropathological findings in patients with TACO1 mutations.
We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO1) gene, leading to cytochrome c oxidase (COX) deficiency. Here, we report the clinical and neuroimaging findings of five members of a big consanguinous family homozygous for c.472insC in TACO1. All 5 patients had an uneventful early childhood and a subtle onset, slowly progressive cognitive dysfunction, dystonia or visual impairment between ages 4 and 16years. Affected girls had a milder phenotype and preserved ambulation into the late twenties. Brain MRI revealed bilateral, symmetric lesions of the basal ganglia in all affected family members, but less prominent in girls. TACO1 analysis showed no mutations in 17 patients with juvenile-onset Leigh syndrome and isolated COX or combined respiratory chain deficiency, indicating that TACO1 mutations are a rare cause of Leigh syndrome.
Seeger
Jürgen
J
Deutsche Klinik für Diagnostik, Wiesbaden, Germany.
Schrank
Bertold
B
Pyle
Angela
A
Stucka
Rolf
R
Lörcher
Ulrich
U
Müller-Ziermann
Solvig
S
Abicht
Angela
A
Czermin
Birgit
B
Holinski-Feder
Elke
E
Lochmüller
Hanns
H
Horvath
Rita
R
D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D002648:Child; D003072:Cognition Disorders / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology*; D010641:Phenotype; D012737:Sex Factors
D008840:Microfilament Proteins; C072061:coronin proteins; D003576:Electron Transport Complex IV