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A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.

Author information

Affiliations

  • 1. Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at UCL, London, UK.
      Authors
    • O'Connor A 1
    • Fraser MR 1
    • Ryan NS 1
    • Fox NC 1
    (4 authors)
  • 2. UK Dementia Research Institute at UCL, London, UK.
      Authors
    • Abel E 2
    (1 author)
  • 3. Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
      Authors
    • Jiménez DA 3
    • Mummery CJ 3
    • Rossor MN 3
    (3 authors)
  • 4. MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK.
      Authors
    • Koriath C 4
    (1 author)
  • 5. VIB-KU Leuven Centre for Brain and Disease Research, Leuven, Belgium; Department of Neurosciences, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven, Leuven, Belgium.
      Authors
    • Chávez-Gutiérrez L 5
    (1 author)
    • Show all (9)

ORCIDs linked to this article

Show all (7)

Neurobiology of Aging, 05 Feb 2021, 103:137.e1-137.e5
https://doi.org/10.1016/j.neurobiolaging.2021.01.032 PMID: 33648786 

Abstract 

Mutations in the Presenilin 1 (PSEN1) gene are the most common cause of autosomal dominant familial Alzheimer's disease. We report the clinical, imaging and postmortem findings of kindred carrying a novel duplication mutation (Ile168dup) in the PSEN1 gene. We interpret the pathogenicity of this novel variant and discuss the additional neurological features (pyramidal dysfunction, myoclonus and seizures) that accompanied cognitive decline. This report broadens the clinical phenotype of PSEN1 insertion mutations while also highlighting the importance of considering duplication, insertion and deletion mutations in cases of young onset dementia.

Full text links 

Read article at publisher's site: https://doi.org/10.1016/j.neurobiolaging.2021.01.032

Read article for free, from open access legal sources, via Unpaywall: https://discovery.ucl.ac.uk/10123549/3/Mead_A%20novel%20presenilin%201%20duplication%20mutation%20%28Ile168dup%29%20causing%20Alzheimer%27s%20disease%20associated%20with%20myoclonus%2C%20seizures%20and%20pyramidal%20features_AAM.pdfUnpaywall

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Funding 

Funders who supported this work.

Alzheimer's Society

    Medical Research Council (2)

    National Institute for Health Research (NIHR)

      Rosetrees Trust (1)