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 visuo-spatial memory associated with hypoperfusion in the basal anglia, whereas the homozygotes for the wild-type allele of TREM2 did not show any abnormalities.
Original language | English |
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Pages (from-to) | 71-75 |
Number of pages | 5 |
Journal | Functional Neurology |
Volume | 20 |
Issue number | 2 |
Publication status | Published - Apr 2005 |
Keywords
- Cognition
- Heterozygotes
- Nasu-Hakola disease
- Neuropsychological tests
- SPECT
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)