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Detection of thepresenilin 1gene mutation (M139T) in early-onset familial Alzheimer disease in Spain

Authors
Journal
Neuroscience Letters
0304-3940
Publisher
Elsevier
Publication Date
Volume
299
Issue
3
Identifiers
DOI: 10.1016/s0304-3940(01)01498-7
Keywords
  • Early-Onset Alzheimer'S Disease
  • Alzheimer Disease
  • Presenilin 1 Gene
  • Mutation
Disciplines
  • Medicine

Abstract

Abstract In a family with early-onset Alzheimer disease (EOAD) from Spain we found a mutation in the presenilin 1 ( PS1) gene that predicts a methionine-to-threonine change at the PS1 residue 139 (M139T). This mutation was previously reported in a independent French family. The age of onset of the disease was similar in the affected members from both families, suggesting a specific age of expression (range 47–50 years). The detection of the M139T mutation in an independent EOAD family strongly supports the pathogenicity of this mutation in familial Alzheimer disease (AD).

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