A Japanese Case with Nasu-Hakola Disease of DAP12 Gene Mutation Exhibiting Precuneus Hypoperfusion

  • Nakamagoe Kiyotaka
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
  • Shioya Ayako
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
  • Yamaguchi Tetsuto
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
  • Takahashi Hiroyuki
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
  • Koide Reiko
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
  • Monzen Tatsuya
    Department of Neurology, Ushiku Aiwa General Hospital, Japan
  • Satoh Jun-ichi
    Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Japan
  • Tamaoka Akira
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan

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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.<br>

Journal

  • Internal Medicine

    Internal Medicine 50 (22), 2839-2844, 2011

    The Japanese Society of Internal Medicine

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