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

Funct Neurol. 2005 Apr-Jun;20(2):71-5.


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

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Basal Ganglia / pathology*
  • Bone Cysts / diagnosis
  • Bone Cysts / genetics*
  • Bone Cysts / pathology
  • Dementia, Vascular / diagnosis
  • Dementia, Vascular / genetics*
  • Dementia, Vascular / pathology
  • Family
  • Female
  • Heterozygote*
  • Humans
  • Lipodystrophy / diagnosis
  • Lipodystrophy / genetics
  • Lipodystrophy / pathology
  • Magnetic Resonance Imaging
  • Male
  • Membrane Glycoproteins / genetics*
  • Memory Disorders / genetics*
  • Memory Disorders / pathology
  • Neuropsychological Tests
  • Pedigree
  • Receptors, Immunologic / genetics*
  • Severity of Illness Index
  • Space Perception
  • Syndrome
  • Triggering Receptor Expressed on Myeloid Cells-1


  • Membrane Glycoproteins
  • Receptors, Immunologic
  • TREM1 protein, human
  • Triggering Receptor Expressed on Myeloid Cells-1