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
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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... ...
