Confirmation of ACER3-Related Recessive Neurodegeneration
Confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification
These findings were presented at the ASHG 2018.
- Ceramidases cleave ceramides into fatty acids and sphingosine
- They are thereby important players in lipid metabolism
- Knockout of the murine alkaline ceramidase 3 (Acer3) entails a late onset gait phenotype, Purkinje cell degeneration and dysregulation of several ceramides
- A homozygous missense variant in the human homologue ACER3 has been associated with leukodystrophy and abnormal ceramide/sphingolipid profiles in two patients from a single family