title: A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
abstract: Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del mutation in WDR45. In this patient, characteristic MRI findings were useful for diagnosis.
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ozawa
authors.forename: Reiji
authors.initials: R
authors.lastname: Koide
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Nakata
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Kazushi
authors.initials: K
authors.lastname: Takahashi
authors.forename: Imaharu
authors.initials: I
authors.lastname: Nakano
authors.forename: Satoshi
authors.initials: S
authors.lastname: Orimo
mesh_terms: D000328:Adult; D001483:Base Sequence; D001927:Brain Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000150:complications* / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human
keywords: WDR45; magnetic resonance imaging (MRI); static encephalopathy of childhood with neurodegenartion in adulthood (SENDA)