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Article

Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN).

Rinsho shinkeigaku = Clinical neurology - 22 Nov 2024

Tetsuka Syuichi, Ogawa Tomoko, Mizobe Marina, Muramatsu Kazuhiro

Abstract excerpt

Beta-propeller protein-associated neurodegeneration (BPAN) encompasses a group of refractory neurodegenerative diseases that are caused by excessive iron deposition in the brain, especially in the basal ganglia. We reported a case of BPAN with a novel variant of the WDR45 gene at Xp11.23. Our patient was a 31-year-old woman who has had an intellectual disability since childhood. Approximately 3 years ago, she...

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PMID: 39401925
DOI: 10.5692/clinicalneurol.cn-002015

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