Oct 2026
Gain-of-Function Variants in PLAAT4 and Spinal Predominant Demyelinating Leukodystrophy.
Importance Leukoencephalopathies are clinically and etiologically heterogeneous disorders, and establishing a specific diagnosis remains challenging. Patients with unexplained spastic paraplegia and brain white matter hyperintensities (WMH) may be misdiagnosed as having multiple sclerosis, potentially exposing them to...
Yi-Heng Zeng, Bo-Li Chen, Yan Shi et al.
· JAMA Neurology · 0 citations