Abstract
Nasu-Hakola disease is a rare, recessively inherited disease characterized by presenile dementia and bone cysts. Until now, no evidence of subclincal pathological changes in individuals heterozygous for the mutations underlying Nasu-Hakola disease has been reported. We performed a functional neuroimaging (99mTc-ECD SPECT) and neuropsychological study of healthy members of an Italian family carrying a mutation in the TREM2 gene. Two healthy subjects heterozygous for one mutated TREM2 allele showed a deficit of visuospatial memory associated with hypoperfusion in the basal ganglia, whereas the homozygotes for the wild-type allele of TREM2 did not show any abnormalities.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Basal Ganglia / pathology*
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Bone Cysts / diagnosis
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Bone Cysts / genetics*
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Bone Cysts / pathology
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Dementia, Vascular / diagnosis
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Dementia, Vascular / genetics*
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Dementia, Vascular / pathology
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Family
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Female
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Heterozygote*
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Humans
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Lipodystrophy / diagnosis
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Lipodystrophy / genetics
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Lipodystrophy / pathology
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Magnetic Resonance Imaging
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Male
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Membrane Glycoproteins / genetics*
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Memory Disorders / genetics*
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Memory Disorders / pathology
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Neuropsychological Tests
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Pedigree
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Receptors, Immunologic / genetics*
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Severity of Illness Index
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Space Perception
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Syndrome
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Triggering Receptor Expressed on Myeloid Cells-1
Substances
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Membrane Glycoproteins
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Receptors, Immunologic
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TREM1 protein, human
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Triggering Receptor Expressed on Myeloid Cells-1