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Case report
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Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

Published inAnnals of clinical and translational neurology, vol. 9, no. 6, p. 888-892
Publication date2022-04-28
First online date2022-04-28
Abstract

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.

eng
Citation (ISO format)
GSCHWIND, Markus et al. Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient. In: Annals of clinical and translational neurology, 2022, vol. 9, n° 6, p. 888–892. doi: 10.1002/acn3.51556
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ISSN of the journal2328-9503
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