ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.

ABSTRACT:

Background

Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroimaging findings; however, genetic tools, particularly whole-exome sequencing (WES), have led to comprehending the causative gene and molecular events contributing to these disorders. Mutation in Alkaline Ceramidase 3 (ACER3) gene which encodes alkaline ceramidase enzyme that plays a crucial role in cellular growth and viability has been stated as an uncommon reason for inherited leukoencephalopathies. Merely only two ACER3 mutations in cases of progressive leukodystrophies have been reported thus far.

Results

In the current study, we have identified three novel

SUBMITTER: Dehnavi AZ 

PROVIDER: S-EPMC8287746 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature