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

Mangone, C. A., Castaño, E. M., Levy, E., Abiusi, G., Wisniewski, T., Marques, M. R., Faccio, E., Gorelick, P. B., Frangione, B., Sica, R. E. P.·1995·Acta Neurologica Scandinavica
DOI 10.1111/j.1600-0404.1995.tb05835.x
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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.

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  • Among known FAD mutations, variants in presenilin-1 (PSEN1) are the most prevalent, with the M146L mutation being one of the best-characterized disease-causing alleles.

    “Among known FAD mutations, variants in presenilin-1 (PSEN1) are the most prevalent, with the M146L mutation being one of the best-characterized diseasecausing alleles (Mangone et al. 1995;Morelli et al. 1998).”

    From TMEM55B downregulation promotes neurodegeneration in Alzheimer’s disease models (2026) · cites this paper as Mangone et al. 1995

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Metadata

Authors
Mangone, C. A., Castaño, E. M., Levy, E., Abiusi, G., Wisniewski, T., Marques, M. R., Faccio, E., Gorelick, P. B., Frangione, B., & Sica, R. E. P.
Venue
Acta Neurologica Scandinavica
Publisher
Hindawi Limited
Published
1995-01
Volume
91
Issue
1
Pages
6-13
ISSN
  • 0001-6314
  • 1600-0404
DOI
10.1111/j.1600-0404.1995.tb05835.x
Cited by
10
References
4
Language
en
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 7548 d)

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