Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
11
03
2022
received:
11
05
2021
accepted:
26
03
2022
pubmed:
29
4
2022
medline:
15
6
2022
entrez:
28
4
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35482023
doi: 10.1002/acn3.51556
pmc: PMC9186134
doi:
Substances chimiques
NDUFV1 protein, human
0
Electron Transport Complex I
EC 7.1.1.2
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
888-892Informations de copyright
© 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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