Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.

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State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_A6682E61ECE6
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Journal
Annals of clinical and translational neurology
Author(s)
Gschwind M., Garcia Segarra N., Schaller A., Bolognini R., Nuoffer J.M., Hourez R., Deprez M., Lhermitte B., Maeder P., Tran C., Kuntzer T.
ISSN
2328-9503 (Electronic)
ISSN-L
2328-9503
Publication state
Published
Issued date
06/2022
Peer-reviewed
Oui
Volume
9
Number
6
Pages
888-892
Language
english
Notes
Publication types: Case Reports
Publication Status: ppublish
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.
Keywords
Adult, Ataxia, Cerebellar Ataxia/genetics, Electron Transport Complex I/genetics, Humans, Paraplegia/genetics, Spastic Paraplegia, Hereditary/genetics
Pubmed
Web of science
Open Access
Yes
Create date
13/05/2022 18:00
Last modification date
25/06/2022 6:34
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