LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

ABSTRACT:

Objective

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is regarded a relatively mild leukodystrophy, diagnosed by characteristic long tract abnormalities on MRI and biallelic variants in DARS2, encoding mitochondrial aspartyl-tRNA synthetase (mtAspRS). DARS2 variants in LBSL are almost invariably compound heterozygous; in 95% of cases, 1 is a leaky splice site variant in intron 2. A few severely affected patients, still fulfilling the MRI criteria, have been described. We noticed highly unusual MRI presentations in 15 cases diagnosed by WES. We examined these cases to determine whether they represent consistent novel LBSL phenotypes.

Methods

We reviewed clinical features, MRI abnormalities, and gene variants and in

SUBMITTER: Stellingwerff MD 

PROVIDER: S-EPMC8105885 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature