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Case Reports
. 2008 May;94(1):78-82.
doi: 10.1016/j.ymgme.2007.11.013. Epub 2008 Jan 3.

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Flora Barghuti  1 , Khaled Elian, John Moshe Gomori, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg
Affiliations
Case Reports

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Flora Barghuti et al. Mol Genet Metab. 2008 May.

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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