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Génétique des formes autosomiques dominantes de maladie d’Alzheimer

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Traité sur la maladie d’Alzheimer

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Résumé

Au cours des vingt dernières années, l’étude systématique des formes familiales de MA à début précoce a permis l’identification de plusieurs anomalies génétiques responsables. Ces formes autosomiques dominantes représentent moins de 1% de la totalité des MA [1] mais sont déterminantes pour la compréhension physiopathologique. Savoir reconnaître ces formes et disposer d’un diagnostic de certitude est essentiel pour répondre aux questions de conseil génétique. Ces formes autosomiques dominantes sont dues à des mutations ou duplications du gène APP et des mutations des gènes PSEN1 et PSEN2. Environ 85% de ces formes sont dues à des mutations ou duplications du gène APP ou à des mutations des gènes PSEN1 et PSEN2 [2]. L’étude des conséquences des mutations de ces trois gènes a permis de comprendre la cascade amyloïde permettant de la placer comme événement principal responsable de l’affection. Dans ce chapitre, nous proposons une mise au point concernant différents phénotypes et génotypes de ces formes autosomiques dominantes, en se basant notamment sur les données du Centre national de référence malades Alzheimer jeunes (CNR-MAJ).

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Authors and Affiliations

  1. Centre national de référence malades Alzheimer jeunes, CHU de Rouen, 76031, Rouen cedex, France

    D. Wallon, D. Campion & D. Hannequin

  2. Unité INSERM, UMR1079, Faculté de médecine et pharmacie, 76183, Rouen cedex, France

    D. Wallon, D. Campion & D. Hannequin

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  1. D. Wallon
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  2. D. Campion
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Correspondence to D. Wallon .

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Wallon, D., Campion, D., Hannequin, D. (2013). Génétique des formes autosomiques dominantes de maladie d’Alzheimer. In: Traité sur la maladie d’Alzheimer. Springer, Paris. https://doi.org/10.1007/978-2-8178-0443-9_9

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  • DOI: https://doi.org/10.1007/978-2-8178-0443-9_9

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-8178-0442-2

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