Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.

DOI
Publisher DOI
PubMed ID
35482023
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.
Date Issued
2022-06
Publication Type
Article
Subject(s)
Language(s)
en
Author(s)
Gschwind, Markus
Garcia Segarra, Nuria
Bolognini, Ramona
Hourez, Raphael
Deprez, Manuel
Lhermitte, Benoit
Maeder, Philippe
Tran, Christel
Kuntzer, Thierry
Additional Credits
Journal
Annals of Clinical and Translational Neurology
Publisher
Wiley
ISSN
2328-9503
Access(Rights)
open.access
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