title: The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
abstract: We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD) families with PSEN1, PSEN2, and AβPP mutations or duplications, raising the total of families with mutations on known genes to 111 (74 PSEN1, 8 PSEN2, 16 AβPP, and 13 AβPP duplications) in the French series. In 33 additional families (23% of the series), the genetic determinism remained uncharacterized after this screening. Cerebrospinal fluid (CSF) biomarker levels were obtained for patients of 58 families (42 with known mutations and 16 without genetic characterization). CSF biomarkers profile was consistent with an AD diagnosis in 90% of families carrying mutations on known genes. In families without mutation, CSF biomarkers were consistent with AD diagnosis in 14/16 cases. Overall, these results support further genetic heterogeneity in the determinism of ADEOAD and suggest that other major genes remain to be characterized.
authors.affiliation: Inserm U1079, CHU et Faculté de Médecine-Pharmacie, Rouen, France.
authors.forename: David
authors.initials: D
authors.lastname: Wallon
authors.forename: Stéphane
authors.initials: S
authors.lastname: Rousseau
authors.forename: Anne
authors.initials: A
authors.lastname: Rovelet-Lecrux
authors.forename: Muriel
authors.initials: M
authors.lastname: Quillard-Muraine
authors.forename: Lucie
authors.initials: L
authors.lastname: Guyant-Maréchal
authors.forename: Olivier
authors.initials: O
authors.lastname: Martinaud
authors.forename: Jérémie
authors.initials: J
authors.lastname: Pariente
authors.forename: Michèle
authors.initials: M
authors.lastname: Puel
authors.forename: Adeline
authors.initials: A
authors.lastname: Rollin-Sillaire
authors.forename: Florence
authors.initials: F
authors.lastname: Pasquier
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.forename: Marie
authors.initials: M
authors.lastname: Sarazin
authors.forename: Bernard
authors.initials: B
authors.lastname: Croisile
authors.forename: Claire
authors.initials: C
authors.lastname: Boutoleau-Bretonnière
authors.forename: Catherine
authors.initials: C
authors.lastname: Thomas-Antérion
authors.forename: Claire
authors.initials: C
authors.lastname: Paquet
authors.forename: Olivier
authors.initials: O
authors.lastname: Moreaud
authors.forename: Audrey
authors.initials: A
authors.lastname: Gabelle
authors.forename: François
authors.initials: F
authors.lastname: Sellal
authors.forename: Mathilde
authors.initials: M
authors.lastname: Sauvée
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerrière
authors.forename: Charles
authors.initials: C
authors.lastname: Duyckaerts
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
authors.forename: Nathalie
authors.initials: N
authors.lastname: Streichenberger
authors.forename: Béatrice
authors.initials: B
authors.lastname: Lannes
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid* / Q000453:epidemiology / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D015415:Biomarkers / Q000134:cerebrospinal fluid; D005260:Female; D005602:France / Q000453:epidemiology; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics; D053766:Presenilin-2 / Q000235:genetics
chemical_list: D016564:Amyloid beta-Protein Precursor; D015415:Biomarkers; D005819:Genetic Markers; D053764:Presenilin-1; D053766:Presenilin-2