Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2 -related disorder

JIMD Reports
Marianna AlagiaNicola Brunetti-Pierri

Abstract

Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2-related disorder presenting with cavitating and tigroid-like pattern of leukodystrophy and without systemic biochemical abnormalities of mitochondrial disorders.

References

Jun 15, 2006·Neuropediatrics·R G HouraniM H Hourani
Jun 3, 2008·American Journal of Human Genetics·Saskia J G HoefsLambert P van den Heuvel
Dec 5, 2012·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Andrea L Gropman
Dec 19, 2012·Seminars in Pediatric Neurology·Adeline VanderverHeather J Hoffman
Feb 7, 2015·Molecular Genetics and Metabolism·Sumit ParikhUNKNOWN GLIA Consortium
May 10, 2016·Annals of Neurology·Adeline VanderverRyan J Taft
Aug 27, 2016·Neuropediatrics·Sietske H KevelamMarjo S van der Knaap
Sep 1, 2017·Clinical Genetics·S PerrierG Bernard

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Citations

Nov 8, 2020·FEBS Letters·Erika Fernandez-Vizarra, Massimo Zeviani
Nov 26, 2020·Life·Quynh-Chi L DangSteven B Vik

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Methods Mentioned

BETA
exome sequencing
biopsies

Software Mentioned

SIFT

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