Posted inClinical Updates Neurology
Unraveling SPDMLS: Gain-of-Function PLAAT4 Variants in Spinal Predominant Demyelinating Leukodystrophy
Gain-of-function variants in PLAAT4 define a novel autosomal dominant leukodystrophy characterized by spastic paraplegia and spinal cord white matter abnormalities, with arachidonic acid-related lipids as potential biomarkers.