Care Institute of Medical Sciences

Levodopa-responsive parkinsonism with dystonia in RAB39B-related Waisman syndrome: a case report

Pathogenic variants in RAB39B, located on chromosome Xq28, cause a rare X-linked neurodevelopmental disorder characterized by intellectual disability and early-onset parkinsonism, commonly referred to as Waisman syndrome. RAB39B encodes a neuron-specific small GTPase involved in...