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[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs]
- Source :
- Rinsho shinkeigaku = Clinical neurology. 60(5)
- Publication Year :
- 2020
-
Abstract
- 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 of 31. Brain MRI showed the T
Details
- ISSN :
- 18820654
- Volume :
- 60
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Rinsho shinkeigaku = Clinical neurology
- Accession number :
- edsair.pmid..........740e914587ba4aec088002436233cbb0