Metadatas
- doi: 10.1002/acn3.51556
- issn: 2328-9503
This document is linked to :
info:eu-repo/semantics/altIdentifier/doi/10.1002/acn3.51556
This document is linked to :
info:eu-repo/semantics/altIdentifier/pmid/35482023
This document is linked to :
info:eu-repo/semantics/altIdentifier/eissn/2328-9503
This document is linked to :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A6682E61ECE66
info:eu-repo/semantics/openAccess , CC BY-NC-ND 4.0 , https://creativecommons.org/licenses/by-nc-nd/4.0/
Similar subjects
Methods of analysis Analysis and chemistry Analytical methods Chemical analysis Analysis methods Analysis and examinationCite this document
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
Metrics
Share / Export
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.
