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

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 br...

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Detalhes bibliográficos

Principais autores:	Wen-Che Li, Pou-Leng Cheong, Kai-Hsiang Stanley Chen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2025-01-01
coleção:	Clinical Parkinsonism & Related Disorders
Assuntos:	Beta-propeller protein-associated neurodegeneration WDR45 Neurodegeneration with brain iron accumulation Parkinsonism Dystonia Levodopa-responsive
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2590112525000490
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