Early onset Alzheimer's disease in a South American pedigree from Argentina

C. A. Mangone*, E. M. Castaño, E. Levy, G. Abiusi, T. Wisniewski, M. R. Marques, E. Faccio, P. B. Gorelick, B. Frangione, R. E.P. Sica

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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 β amyloid deposits within neuritic plaques and vessel walls and no anti‐PrP immunoreactivity. DNA analysis showed no abnormalities in the β 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.

Original languageEnglish (US)
Pages (from-to)6-13
Number of pages8
JournalActa Neurologica Scandinavica
Issue number1
StatePublished - Jan 1995


  • Alzheimer's disease
  • SPET
  • genetics
  • immunohistochemistry
  • β amyloid protein

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'Early onset Alzheimer's disease in a South American pedigree from Argentina'. Together they form a unique fingerprint.

Cite this