Significant relief of parkinsonism and dystonia with levodopa in beta-propeller protein-associated neurodegeneration: a video case report and insights into the WDR45 c.400C>T mutation

Abstract

We describe a young woman with BPAN carrying c.400 C>T mutation in WDR45. Her motor symptoms improved with low-dose levodopa. Notably, the absence of seizures in adulthood and Rett-like features in our patient, consistent with previous reports, may be distinct features of this variant compared to broader WDR45-related neurodevelopmental disorders population.

Keywords

• Beta-propeller protein-associated neurodegeneration
• WDR45
• Neurodegeneration with brain iron accumulation
• Parkinsonism
• Dystonia
• Levodopa-responsive