Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient. Issue 6 (28th April 2022)

• Record Type: Journal Article
• Authors: Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean‐Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry
• Is Part Of: Annals of clinical and translational neurology. Volume 9:Issue 6(2022)
• Page Start: 888
• Page End: 892
• Publication Date: 2022-04-28
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.51556
• Languages: English
• ISSNs: 2328-9503

Abstract

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.