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

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.

SUBMITTER: Gschwind M

PROVIDER: S-EPMC9186134 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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

Gschwind Markus M Garcia Segarra Nuria N Schaller André A Bolognini Ramona R Nuoffer Jean-Marc JM Hourez Raphael R Deprez Manuel M Lhermitte Benoit B Maeder Philippe P Tran Christel C Kuntzer Thierry T

Annals of clinical and translational neurology 20220428 6

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 un ...[more]

PMID: 35482023

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