title: A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.
abstract: A 38-year-old Japanese man with Nasu-Hakola disease (NHD) had repeated pathological fractures and frontal lobe symptoms which developed when he was 18 and 26 years old, respectively. Neuropsychological testing showed memory impairment, and in particular, visuo-spatial memory at the age of 35. Furthermore, single-photon emission computed tomography revealed precuneus hypoperfusion. The patient later suffered prolonged convulsive seizures, which left him in a persistent vegetative state. Genetic testing confirmed a heterozygous mutation in the DAP12 gene (a single-base deletion of 141 G in exon 3) specific to NHD. Precuneus dysfunction might contribute to characteristic memory impairment of NHD.
authors.affiliation: Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan. Nakamagoek@md.tsukuba.ac.jp
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Nakamagoe
authors.forename: Ayako
authors.initials: A
authors.lastname: Shioya
authors.forename: Tetsuto
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Takahashi
authors.forename: Reiko
authors.initials: R
authors.lastname: Koide
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Monzen
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Satoh
authors.forename: Akira
authors.initials: A
authors.lastname: Tamaoka
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D018450:Disease Progression; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D008060:Lipodystrophy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009483:Neuropsychological Tests; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D017384:Sequence Deletion; D013344:Subacute Sclerosing Panencephalitis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins; C110546:TYROBP protein, human