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Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient
- Source :
- Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 888-892 (2022)
- Publication Year :
- 2022
- Publisher :
- Wiley, 2022.
-
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.
Details
- Language :
- English
- ISSN :
- 23289503
- Volume :
- 9
- Issue :
- 6
- Database :
- Directory of Open Access Journals
- Journal :
- Annals of Clinical and Translational Neurology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.471207146204be7b99a31d25da12a72
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/acn3.51556