title: Early onset Alzheimer's disease in a South American pedigree from Argentina.
abstract: We report the clinical, SPET, immunohistochemical and DNA features of an early-onset familial Alzheimer's disease (FAD) in an Argentine pedigree of South American indian ethnic background. Pedigree spans 5 generations comprising more than 110 biological relatives. Clinical data supported the diagnosis of early onset FAD (mean age at onset 38.9 years) in 10 family members, including 3 with pathological confirmation (mean age at death 48.5). The pattern of transmission suggested autosomal dominant inheritance. Prominent features were mood changes, early language impairment, myoclonus, seizures and cerebellar signs. SPET displayed bilateral frontal, temporo-parietal and cerebellar hypoperfusion in early stages and in an asymptomatic member at risk, suggesting that SPET may have predictive value in this family. Immunohistochemistry showed beta amyloid deposits within neuritic plaques and vessel walls and no anti-PrP immunoreactivity. DNA analysis showed no abnormalities in the beta amyloid precursor protein gene. The identification of additional genetic defects in well characterized independent FAD pedigrees will contribute to the understanding of the pathogenesis of Alzheimer's disease.
authors.affiliation: Department of Neurology, Ramos Mejia Hospital, Buenos Aires, Argentina.
authors.forename: C A
authors.initials: CA
authors.lastname: Mangone
authors.forename: E M
authors.initials: EM
authors.lastname: Castaño
authors.forename: E
authors.initials: E
authors.lastname: Levy
authors.forename: G
authors.initials: G
authors.lastname: Abiusi
authors.forename: T
authors.initials: T
authors.lastname: Wisniewski
authors.forename: M R
authors.initials: MR
authors.lastname: Marques
authors.forename: E
authors.initials: E
authors.lastname: Faccio
authors.forename: P B
authors.initials: PB
authors.lastname: Gorelick
authors.forename: B
authors.initials: B
authors.lastname: Frangione
authors.forename: R E
authors.initials: RE
authors.lastname: Sica
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D016229:Amyloid beta-Peptides / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D016564:Amyloid beta-Protein Precursor / Q000235:genetics / Q000378:metabolism; D000911:Antibodies, Monoclonal; D001118:Argentina; D015153:Blotting, Western; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology*; D003072:Cognition Disorders; D004247:DNA / Q000032:analysis; D004569:Electroencephalography; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D010375:Pedigree; D012189:Retrospective Studies; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed
chemical_list: D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor; D000911:Antibodies, Monoclonal; D004247:DNA