Gschwind 2022 Ann Clin Transl Neurol: Difference between revisions
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|pathways=N, S, CIV | |pathways=N, S, CIV | ||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
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Latest revision as of 16:21, 28 November 2022
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 |
ยป 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.
โข Bioblast editor: Plangger M โข 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