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  • A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

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A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances
  1. R Queralt1,
  2. M Ezquerra1,
  3. A Lleó2,
  4. M Castellví2,
  5. J Gelpí,
  6. I Ferrer3,
  7. N Acarín4,
  8. L Pasarín5,
  9. R Blesa2,
  10. R Oliva1
  1. 1Genetics Service, Hospital Clínic, Universitat de Barcelona, Spain
  2. 2Neurology Service
  3. 3Bank of Neurological Tissues
  4. 4Neurology Service, Hospital Vall d'Hebron. Barcelona, Spain
  5. 5Institut Psiquiatric, IMAS, Barcelona, Spain
  1. Correspondence to:
    Dr R Oliva, Genetics Service, Hospital Clínic, Villarroel 170, 08036 Barcelona, Spain;
    roliva{at}clinic.ub.es

Abstract

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.

  • Alzheimer's disease
  • presenilin
  • mutation
  • PSEN1, presenilin 1
  • PSEN2, presenilin 2
  • APP, amyloid precursor protein

https://doi.org/10.1136/jnnp.72.2.266

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