Work

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

Year: 2025

Type: article

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.

Source: Clinical Parkinsonism & Related Disorders

DOI: 10.1016/j.prdoa.2025.100345

Authors: Wen-Che Li, Pou-Leng Cheong, Kai-Hsiang Stanley Chen

Institution: National Taiwan University Hospital

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,730