ArticleNeurogenetics2014
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
Article in Neurogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.Neurogenetics · 2024Article
- A Drosophila model of mitochondrial disease phenotypic heterogeneity.Biology open · 2024Article
- NDUFV1 attenuates renal ischemia-reperfusion injury by improving mitochondrial homeostasis.Journal of cellular and molecular medicine · 2023Article
- Mutations inCells · 2019Article
- Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.Annals of neurology · 2016Article
- Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Frontiers in genetics · 2014Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I activity. Magnetic resonance imaging of the brain showed a diffuse cystic leukoencephalopathy with the involvement of the corpus callosum and sparing of the gray matter. The clinical course was marked by an acute presentation of neurological deficits at 24 months followed by recurrent episodes of mild neurological deterioration, subsequent remissions, and prolonged periods of stability. This is one of the mildest known clinical presentations of complex I deficiency secondary to mutations in NDUFS1, expanding the clinical spectrum and natural history of this disorder. Consideration of clinical variability needs to be taken into account in patient management and family counseling.
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