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

Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), pp. 888-892. Wiley 10.1002/acn3.51556

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics

UniBE Contributor:

Schaller, André, Nuoffer, Jean-Marc

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2328-9503

Publisher:

Wiley

Language:

English

Submitter:

Pubmed Import

Date Deposited:

29 Apr 2022 10:59

Last Modified:

05 Dec 2022 16:19

Publisher DOI:

10.1002/acn3.51556

PubMed ID:

35482023

BORIS DOI:

10.48350/169625

URI:

https://boris.unibe.ch/id/eprint/169625

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