Significant relief of parkinsonism and dystonia with levodopa in beta-propeller protein-associated neurodegeneration: a video case report and insights into the c.400C>T mutation.
Journal
Clinical parkinsonism & related disorders
Journal Volume
12
ISSN
2590-1125
Date Issued
2025
Author(s)
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.
Subjects
Beta-propeller protein-associated neurodegeneration
Dystonia
Levodopa-responsive
Neurodegeneration with brain iron accumulation
Parkinsonism
WDR45
Type
journal article