Yan Shi

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...