title: Relative hyperperfusion by SPECT in a family with a presenilin 1 (T245P) mutation.
abstract: Clinical characteristics of autosomal dominant Alzheimer's disease often differ clinically from sporadic disease with the onset of seizures, spasticity and myoclonus early in the disease course. Similarly imaging characteristics may also differ. We report the findings of relative hyperperfusion by Tc-99m HMPAO SPECT in the medial orbitofrontal cortex and anterior temporal lobe in four affected family members carrying a presenilin 1 mutation. SPECT of the four individuals was compared to an age-matched normal database. We speculate that the findings of relative medial orbitofrontal and anterior temporal lobe hyperperfusion may be a marker of early onset Alzheimer's disease in this family.
authors.affiliation: Department of Neurology, David Geffen School of Medicine at UCLA, Torrance, CA, USA. tlee@labiomed.org
authors.forename: Terri
authors.initials: T
authors.lastname: Edwards-Lee
authors.forename: Johnny
authors.initials: J
authors.lastname: Wen
authors.forename: Julia A
authors.initials: JA
authors.lastname: Chung
authors.forename: Panukorn
authors.initials: P
authors.lastname: Vasinrapee
authors.forename: Frederick S
authors.initials: FS
authors.lastname: Mishkin
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009483:Neuropsychological Tests; D010375:Pedigree; D053764:Presenilin-1 / Q000235:genetics*; D019690:Technetium Tc 99m Exametazime; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D053764:Presenilin-1; D019690:Technetium Tc 99m Exametazime