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Brain Advance Access published online on September 7, 2006
Brain, doi:10.1093/brain/awl237
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received July 10, 2006
Revised August 4, 2006
Accepted August 8, 2006

Article

Phenotype associated with APP duplication in five families

Lucie Cabrejo 1 *, Lucie Guyant-Maréchal 2 *, Annie Laquerrière 3, Martine Vercelletto 4, François De La Fournière 5, Catherine Thomas-Antérion 6, Christophe Verny 7, Franck Letournel 8, Florence Pasquier 9, Anne Vital 10, Frédéric Checler 11, Thierry Frebourg 12, Dominique Campion 13, and Didier Hannequin 2 *

1 Department of Neurology, University Hospital, Rouen, France
2 Department of Neurology, University Hospital, Rouen, France; Inserm U614, Faculty of Medicine, IFRMP, Rouen, France; Department of Genetics, University Hospital, Rouen, France
3 Department of Neuropathology, University Hospital, Rouen, France
4 Department of Neurology, University Hospital, Nantes, France
5 Department of Geriatry, CHG Pau, France
6 Department of Neurology, University Hospital, Saint-Etienne, France
7 Department of Neurology, University Hospital, Angers, France
8 Laboratoire de Biologie Cellulaire, University Hospital, Angers, France
9 Department of Neurology and EA2691, University Hospital, Lille, France
10 Department of Pathology, University Hospital, Bordeaux, France
11 Institut de Pharmacologie Moleculaire et Cellulaire, UMR6097 CNRS/UNSA, Equipe labellisée Fondation pour la Recherche Médicale, Valbonne, France
12 Inserm U614, Faculty of Medicine, IFRMP, Rouen, France; Department of Genetics, University Hospital, Rouen, France
13 Inserm U614, Faculty of Medicine, IFRMP, Rouen, France

* To whom correspondence should be addressed.
Didier Hannequin, E-mail: Didier.hannequin{at}chu-rouen.fr


  Abstract

Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and A{beta}-related cerebral amyloid angiopathy (CAA). This study describes the phenotype of this new entity. Clinical, neuropsychological, imagery and neuropathological data were reviewed. The phenotype was not dependent on the size of the duplication and there was no clinical feature of Down's syndrome. Dementia was observed in all cases; intracerebral haemorrhage (ICH) was reported in 6 (26%) and seizures occurred in 12 (57%) of 21 patients. Age of onset of dementia ranged from 42 to 59 years, ICH from 53 to 64 years and age at death from 46 to 75 years. The neuropathological findings in five cases demonstrated Alzheimer's disease and severe CAA lesions that were reminiscent from those reported in brains of Down's syndrome patients. A striking feature consisted in intraneuronal A{beta}x-40 accumulation located in the granular cell layer of the dentate gyrus and in the pyramidal cell layer of the Ammon's horn.

Keywords: amyloid angiopathy; Alzheimer's disease; APP duplication; Down's syndrome; intracerebral haemorrhage.
*These authors have contributed equally to this work.
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