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- doi: 10.1002/acn3.51556
- issn: 2328-9503
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info:eu-repo/semantics/altIdentifier/pmid/35482023
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M. Gschwind et al., « Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. », Serveur académique Lausannois, ID : 10.1002/acn3.51556
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We present a patient who developed, after an early-onset, a stable course of spastic paraplegia and ataxia for 4 decades and eventually succumbed to two episodes of postinfectious lactic acidosis. Diagnostic workup including muscle biopsy and postmortem analysis, oxymetric analysis, spectrophotometric enzyme analysis, and MitoExome sequencing revealed a necrotizing leukoencephalomyelopathy due to the so far unreported biallelic variant of the NDUFV1 gene (p.(Pro122Leu)). This case extends our understanding of NDUFV1 variants with a 14-fold longer lifetime than so far reported cases, and will foster sensitivity toward respiratory chain disease also in adult patients with sudden deteriorating neurological deficits.