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Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes.

Authors
  • Hernandez, Isabel1, 2
  • Gelpi, Ellen3, 4
  • Molina-Porcel, Laura4
  • Bernal, Sara5, 6
  • Rodríguez-Santiago, Benjamín5, 6
  • Dols-Icardo, Oriol2, 7
  • Ruiz, Agustín1, 2
  • Alcolea, Daniel2, 7
  • Boada, Mercè1, 2
  • Lleó, Alberto2, 7
  • Clarimón, Jordi2, 7
  • 1 Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain. , (Spain)
  • 2 Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. , (Spain)
  • 3 Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria. , (Austria)
  • 4 Neurological Tissue Bank of the Biobank of Hospital Clinic, August Pi i Sunyer Biomedical Research Institute (IDIBAPS, Barcelona, Spain. , (Spain)
  • 5 Genetics Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. , (Spain)
  • 6 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U705), IICS, Madrid, Spain. , (Spain)
  • 7 Memory Unit, Neurology Department, Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. , (Spain)
Type
Published Article
Journal
Neuropathology and applied neurobiology
Publication Date
Jun 01, 2021
Volume
47
Issue
4
Pages
579–582
Identifiers
DOI: 10.1111/nan.12670
PMID: 33095930
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known Mendelian genes related to AD or other neurodegenerative disorders. A sibling of this patient, also carrying the APOEch variant, developed AD at the age of 66 years old. Our data suggest a possible deleterious effect of this variant, which contrast with the protective role that has been previously shown in a subject homozygous for the APOEch with he Paisa PSEN1 mutation. © 2020 British Neuropathological Society.

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