Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Fiche publication
Date publication
avril 2022
Journal
Annals of clinical and translational neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr LHERMITTE Benoît
Tous les auteurs :
Gschwind M, Garcia Segarra N, Schaller A, Bolognini R, Nuoffer JM, Hourez R, Deprez M, Lhermitte B, Maeder P, Tran C, Kuntzer T
Lien Pubmed
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.
Référence
Ann Clin Transl Neurol. 2022 Apr 28;: