title: Siblings with leukoencephalopathy.
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.
authors.affiliation: Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA. gbreningstall@gillettechildrens.com
authors.forename: Galen N
authors.initials: GN
authors.lastname: Breningstall
authors.forename: John
authors.initials: J
authors.lastname: Shoffner
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Patterson
mesh_terms: D042967:Electron Transport Complex I / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D035781:Siblings
chemical_list: C112232:NDUFV1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I