Neuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes

Lorenza Montalbetti, Maria Teresa Ratti, Bianca Greco, Carlo Aprile, Arrigo Moglia, Debora Soragna

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)71-75
Number of pages5
JournalFunctional Neurology
Volume20
Issue number2
Publication statusPublished - Apr 2005

Keywords

  • Cognition
  • Heterozygotes
  • Nasu-Hakola disease
  • Neuropsychological tests
  • SPECT

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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