Related Experiment Video
Updated: Jun 27, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Siblings with leukoencephalopathy
Galen N Breningstall1, John Shoffner, Richard J Patterson
1Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA. gbreningstall@gillettechildrens.com
Abstract:
Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encoded subunit of complex 1. Diffuse leukoencephalopathy may be a presentation of complex 1 deficiency.
Related Concept Videos
Encephalitis ll: Pathophysiology
Encephalitis l: Introduction
Hepatic Encephalopathy
Cerebral Edema ll: Pathophysiology
Hemorrhagic Stroke ll: Pathophysiology
Hemorrhagic Stroke l: Introduction

