A Japanese Case with Nasu-Hakola Disease of DAP12 Gene Mutation Exhibiting Precuneus Hypoperfusion
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- Nakamagoe Kiyotaka
- Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
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- Shioya Ayako
- Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
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- Yamaguchi Tetsuto
- Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
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- Takahashi Hiroyuki
- Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
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- Koide Reiko
- Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
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- Monzen Tatsuya
- Department of Neurology, Ushiku Aiwa General Hospital, Japan
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- Satoh Jun-ichi
- Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Japan
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- Tamaoka Akira
- Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
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説明
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>
収録刊行物
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- Internal Medicine
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Internal Medicine 50 (22), 2839-2844, 2011
一般社団法人 日本内科学会
