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Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant

      Leigh syndrome (LS) is a mitochondrial neurodegenerative disease with an incidence of ∼1/40,000 live births [
      • Lake N.J.
      • Compton A.G.
      • Rahman S.
      • Thorburn D.R.
      Leigh syndrome: one disorder, more than 75 monogenic causes.
      ].

      Keywords

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      References

        • Lake N.J.
        • Compton A.G.
        • Rahman S.
        • Thorburn D.R.
        Leigh syndrome: one disorder, more than 75 monogenic causes.
        Ann. Neurol. 2016; 79: 190-203https://doi.org/10.1002/ana.24551
        • Baertling F.
        • Rodenburg R.J.T.
        • Schaper J.
        • Smeitink J.A.M.
        • Koopman W.J.H.
        • Mayatepek E.
        • Morava E.
        • Distelmaier F.
        A guide to diagnosis and treatment of Leigh syndrome.
        J. Neurol. Neurosurg. Psychiatry. 2014; 85: 257-265https://doi.org/10.1136/jnnp-2012-304426
        • Minoia F.
        • Bertamino M.
        • Picco P.
        • Severino M.
        • Rossi A.
        • Fiorillo C.
        • Minetti C.
        • Nesti C.
        • Santorelli F.M.
        • di Rocco M.
        Widening the heterogeneity of Leigh syndrome: clinical, biochemical, and neuroradiologic features in a patient harboring a NDUFA10 mutation.
        JIMD Reports. 2017; 37: 37-43https://doi.org/10.1007/8904_2017_9
        • Hoefs S.J.G.
        • van Spronsen F.J.
        • Lenssen E.W.H.
        • Nijtmans L.G.
        • Rodenburg R.J.
        • Smeitink J.A.M.
        • van den Heuvel L.P.
        NDUFA10 mutations cause complex i deficiency in a patient with Leigh disease.
        Eur. J. Hum. Genet. 2011; 19: 270-274https://doi.org/10.1038/ejhg.2010.204
        • Haack T.B.
        • Madignier F.
        • Herzer M.
        • Lamantea E.
        • Danhauser K.
        • Invernizzi F.
        • Koch J.
        • Freitag M.
        • Drost R.
        • Hillier I.
        • Haberberger B.
        • Mayr J.A.
        • Ahting U.
        • Tiranti V.
        • Rötig A.
        • Iuso A.
        • Horvath R.
        • Tesarova M.
        • Baric I.
        • Uziel G.
        • Rolinski B.
        • Sperl W.
        • Meitinger T.
        • Zeviani M.
        • Freisinger P.
        • Prokisch H.
        Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
        J. Med. Genet. 2012; 49: 83-89https://doi.org/10.1136/jmedgenet-2011-100577