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[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs].

Rinsho shinkeigaku = Clinical neurology - 26 May 2020

Sato Ryota, Koga Michiaki, Iwama Kazuhiro, Mizuguchi Tsuyoshi, Matsumoto Naomichi, Kanda Takashi

Abstract excerpt

Beta-propeller protein-associated neurodegeneration (BPAN) is categorized in Neurodegeneration with brain iron accumulation. The clinical feature of BPAN is global developmental delay in early childhood, followed rapid progression of cognitive disfunction and parkinsonism in adulthood. This case was pointed out intellectual disability at the age of 9, followed left dominant progressive parkinsonism from the age...

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PMID: 32307390
DOI: 10.5692/clinicalneurol.cn-001324

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