title: A novelWDR45mutation in a patient with β-propeller protein-associated neurodegeneration.
abstract: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal iron accumulation in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood or NBIA 5, is an X-linked dominant subtype of NBIA.1Brain MRI studies consistently demonstrate iron accumulation in the globus pallidus and substantia nigra with a subset of patients also demonstrating a halo of hyperintense signal surrounding a thin region of hypointense signal in the substantia nigra on T1-weighted imaging.2The majority of patients with BPAN are female, but several affected males with identical phenotypes have been described, most likely harboring postzygotic mutations leading to somatic mosaicism.3BPAN has been shown to be caused by heterozygous mutations inWDR45at Xp11.23. To date, all mutations have been de novo, with no affected relatives.1,3,4We report here on a patient with BPAN with a novel c.597_598 deletion mutation inWDR45.
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City.
authors.forename: DonRaphael P
authors.initials: DP
authors.lastname: Wynn
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City.
authors.forename: Stefan M
authors.initials: SM
authors.lastname: Pulst