著者

Kiyotaka Nakamagoe Ayako Shioya Tetsuto Yamaguchi Hiroyuki Takahashi Reiko Koide Tatsuya Monzen Jun-ichi Satoh Akira Tamaoka

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.50, no.22, pp.2839-2844, 2011 (Released:2011-11-15)

参考文献数

19

被引用文献数

6 10

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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.