title: Neuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes.
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.
authors.affiliation: Department of Neuroscience, University of Pavia IRCCS C. Mondino Institute of Neurology Via Mondino, 2 - 27100 Pavia, Italy. lmontalb@unipv.it
authors.forename: Lorenza
authors.initials: L
authors.lastname: Montalbetti
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Ratti
authors.forename: Bianca
authors.initials: B
authors.lastname: Greco
authors.forename: Carlo
authors.initials: C
authors.lastname: Aprile
authors.forename: Arrigo
authors.initials: A
authors.lastname: Moglia
authors.forename: Debora
authors.initials: D
authors.lastname: Soragna
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D001845:Bone Cysts / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D015140:Dementia, Vascular / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008060:Lipodystrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008569:Memory Disorders / Q000235:genetics* / Q000473:pathology; D009483:Neuropsychological Tests; D010375:Pedigree; D011971:Receptors, Immunologic / Q000235:genetics*; D012720:Severity of Illness Index; D013028:Space Perception; D013577:Syndrome; D000073871:Triggering Receptor Expressed on Myeloid Cells-1
chemical_list: D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C408842:TREM1 protein, human; D000073871:Triggering Receptor Expressed on Myeloid Cells-1