A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion

Internal Medicine

Volumn 50, Issue 22, 2011, Pages 2839-2844

  Nakamagoe, Kiyotaka ^a   Shioya, Ayako ^a   Yamaguchi, Tetsuto ^a   Takahashi, Hiroyuki ^a   Koide, Reiko ^a   Monzen, Tatsuya ^b   Satoh, Jun Ichi ^c   Tamaoka, Akira ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

DAP12; MRI; Nasu Hakola disease; Precuneus; SPECT; TREM2

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; BRAIN PERFUSION; CASE REPORT; DAP12 GENE; EXON; FRONTAL LOBE; FRONTAL LOBE SYMPTOM; GENE; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; JAPANESE; MALE; MEMBRANOUS LIPODYSTROPHY; MEMORY; MEMORY DISORDER; NEUROPSYCHOLOGICAL TEST; ONSET AGE; PATHOLOGIC FRACTURE; PERSISTENT VEGETATIVE STATE; PRECUNEUS; PRECUNEUS HYPOPERFUSION; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; VISUOSPATIAL MEMORY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DISEASE PROGRESSION; FRAMESHIFT MUTATION; HUMANS; JAPAN; LIPODYSTROPHY; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; NEUROPSYCHOLOGICAL TESTS; OSTEOCHONDRODYSPLASIAS; SEQUENCE DELETION; SUBACUTE SCLEROSING PANENCEPHALITIS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 81155138922     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.50.5891     Document Type: Article

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