Introduction

• AARS2-RD is a type of leukodystrophy, a group of genetic disorders affecting the white matter of the brain.
• Previously classified under adult-onset leukoencephalopathy with axonal spheroids (ALSP).
• The term ALSP is being phased out due to multiple genetic causes leading to similar phenotypes.
• Classification is now based on the specific genetic variants involved.
• Disorders linked to these genes can manifest in childhood and present beyond the traditional ALSP spectrum.