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Published on: April 4, 2018
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient
Markus Gschwind1,2,3, Nuria Garcia Segarra4, André Schaller5
1Clinic of Neurology, Kantonsspital Aarau, Aarau, Switzerland.
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.
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