Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory...
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| Auteurs principaux: | , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Sciendo
2018
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/c3a5d74663da4074a500d9fb9564ea9d |
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| Résumé: | Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor for cytochrome c-oxidase complex of the respiratory chain and autosomal recessive mutations in SURF1 are one of the most frequent causes of cytochrome c-oxidase-related Leigh syndrome cases. Here, we aimed to elucidate the genetic basis of Leigh syndrome in three Slovak families. |
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