Gschwind 2022 Ann Clin Transl Neurol

Gschwind M, Garcia Segarra N, Schaller A, Bolognini R, Nuoffer JM, Hourez R, Deprez M, Lhermitte B, Maeder P, Tran C, Kuntzer T (2022) Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. https://doi.org/10.1002/acn3.51556

» Ann Clin Transl Neurol 9:888-92. PMID: 35482023 Open Access

Gschwind Markus,  Garcia Segarra Nuria,  Schaller Andre,  Bolognini Ramona,  Nuoffer Jean-Marc,  Hourez Raphael,  Deprez Manuel,  Lhermitte Benoit,  Maeder Philippe,  Tran Christel, Kuntzer Thierry (2022) Ann Clin Transl Neurol

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.

• Bioblast editor: Plangger M • O2k-Network Lab: CH Bern Nuoffer JM

Labels: MiParea: Respiration, Patients  Pathology: Other 

Organism: Human  Tissue;cell: Skeletal muscle, Fibroblast  Preparation: Homogenate 

Coupling state: LEAK, OXPHOS  Pathway: N, S, CIV  HRR: Oxygraph-2k 

2022-11