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2004 | 51 | 1 | 245-242
Article title

Genetic study of familial cases of Alzheimer's disease.

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A small number (1-5%) of Alzheimer's disease (AD) cases associated with the early-onset form of the disease (EOAD) appears to be transmitted as a pure genetic, autosomal dominant trait. To date, three genes responsible for familial EOAD have been identified in the human genome: amyloid precursor protein (APP), presenilin 1 (PS1), and presenilin 2 (PS2). Mutations in these genes account for a significant fraction (18 to 50%) of familial cases of early onset AD. The mutations affect APP processing causing increased production of the toxic Aβ42 peptide. According to the "amyloid cascade hypothesis", aggregation of the Aβ42 peptide in brain is a primary event in AD pathogenesis. In our study of twenty AD patients with a positive family history of dementia, 15% (3 of 20) of the cases could be explained by coding sequence mutations in the PS1 gene. Although a frequency of PS1 mutations is less than 2% in the whole population of AD patients, their detection has a significant diagnostic value for both genetic counseling and treatment in families with AD.
Physical description
  • Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland
  • Department of Neurology, University of Medical Sciences, Poznań, Poland
  • Department of Neurology, University of Medical Sciences, Poznań, Poland
  • Department of Neurology, University of Medical Sciences, Poznań, Poland
  • Department of Neurology, University of Medical Sciences, Poznań, Poland
  • Department of Neurology, University of Medical Sciences, Poznań, Poland
  • Provincial Hospital for Neurological and Psychiatric Diseases, Cibórz, Poland
  • Neuroimmunological Unit, Medical Research Center, Polish Academy of Sciences, Poznań, Poland
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