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四十多岁患者的双等位基因 NDUFV1 变异导致早发性脑白质营养不良。

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

机构信息

Clinic of Neurology, Kantonsspital Aarau, Aarau, Switzerland.

Department of Neurology, Geneva University Hospital and University of Geneva, Geneva, Switzerland.

出版信息

Ann Clin Transl Neurol. 2022 Jun;9(6):888-892. doi: 10.1002/acn3.51556. Epub 2022 Apr 28.

DOI:10.1002/acn3.51556
PMID:35482023
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9186134/
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.

摘要

我们报告了一位患者，他在早期发病后，经历了 40 年的稳定痉挛性截瘫和共济失调，最终因两次感染后乳酸酸中毒而死亡。诊断工作包括肌肉活检和尸检分析、测氧分析、分光光度酶分析和 MitoExome 测序，结果显示一种由于 NDUFV1 基因（p.（Pro122Leu））迄今未报道的双等位基因突变引起的坏死性脑脊髓病。该病例扩展了我们对 NDUFV1 变异体的认识，其寿命比迄今为止报道的病例长 14 倍，并将提高对伴有突发进行性神经功能缺损的成年患者的呼吸链疾病的敏感性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e98/9186134/3adfca4649b7/ACN3-9-888-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e98/9186134/3adfca4649b7/ACN3-9-888-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e98/9186134/3adfca4649b7/ACN3-9-888-g001.jpg

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