Open AccessEarly‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient
Author(s) -
Gschwind Markus,
Garcia Segarra Nuria,
Schaller André,
Bolognini Ramona,
Nuoffer JeanMarc,
Hourez Raphael,
Deprez Manuel,
Lhermitte Benoit,
Maeder Philippe,
Tran Christel,
Kuntzer Thierry
Publication year - 2022
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51556
Subject(s) - medicine , ataxia , muscle biopsy , paraplegia , spastic , hypoventilation , brain biopsy , biopsy , pathology , respiratory system , spinal cord , cerebral palsy , psychiatry
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.