The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Molecular Genetics and Metabolism
Flora BarghutiOrly Elpeleg

Abstract

In two patients who presented at late infancy with hypotonia, nystagmus and ataxia, interspersed with acute episodes of encephalopathy, we identified a mutation in a complex I assembly factor, NDUFA12L, which resulted in a marked reduction of the NDUFA12L protein and of complex I activity. The involvement of the mamillothalamic tracts, substantia nigra/medial lemniscus, medial longitudinal fasciculus, the corpus medullare and the cerebellum, with relative sparing of the cortex and subcortical white matter was distinctive and resembled the findings in the first and only known patient with mutation in the NDUFA12L gene.

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Citations

May 25, 2011·Journal of Inherited Metabolic Disease·Ann SaadaOrly Elpeleg
Jun 16, 2009·Human Molecular Genetics·Rolf J R J JanssenLeo G J Nijtmans
Nov 22, 2011·Molecular Genetics and Metabolism·Hélène Pagniez-MammeriAbdelhamid Slama
Jun 18, 2011·Seminars in Fetal & Neonatal Medicine·Francisca DiazCarlos T Moraes
Aug 26, 2009·The International Journal of Biochemistry & Cell Biology·Peter H G M WillemsWerner J H Koopman
Mar 5, 2016·Applied & Translational Genomics·Mohamed Salama, Wael M Y Mohamed
Jan 31, 2012·Developmental Medicine and Child Neurology·Shamima Rahman
Mar 14, 2013·Acta Neurologica Scandinavica·J Finsterer, S Zarrouk Mahjoub
Aug 22, 2015·Lancet Neurology·Gábor Zsurka, Wolfram S Kunz
Sep 20, 2011·Biochimica Et Biophysica Acta·Masakazu MimakiMichael T Ryan
May 27, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Jessie M CameronAndreas Schulze
Jan 28, 2009·Biochimica Et Biophysica Acta·Federica ValsecchiPeter H G M Willems
Jun 6, 2012·The International Journal of Biochemistry & Cell Biology·Luisa IommariniAnna Maria Porcelli
Jul 16, 2008·Biochimica Et Biophysica Acta·Erika Fernández-VizarraMassimo Zeviani
Sep 7, 2016·Frontiers in Molecular Biosciences·Gabriele GiachinMontserrat Soler-López
Jul 22, 2018·Essays in Biochemistry·Daniele Ghezzi, Massimo Zeviani
Nov 8, 2020·FEBS Letters·Erika Fernandez-Vizarra, Massimo Zeviani

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