title: Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers.
abstract: Hexanucleotide expansion repeats in the C9ORF72 gene are a major cause of familial and, to a lesser extent, sporadic frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and FTLD-ALS. To examine whether C9ORF72 expansions could be involved in early-onset Alzheimer's disease (EOAD), we genotyped the hexanucleotide repeat region in a large cohort of 114 EOAD patients who all had positive AD cerebrospinal fluid (CSF) biomarkers. We found hexanucleotide expansion repeats of the C9ORF72 gene in 3 out of 114 patients (2.6%). We raise several hypotheses to explain our results and discuss the current status of AD CSF biomarkers in the dementia diagnostic algorithm.
authors: Inserm UMR1079 and University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.
authors: David
authors: D
authors: Wallon
authors: Anne
authors: A
authors: Rovelet-Lecrux
authors: Vincent
authors: V
authors: Deramecourt
authors: Jeremie
authors: J
authors: Pariente
authors: Sophie
authors: S
authors: Auriacombe
authors: Isabelle
authors: I
authors: Le Ber
authors: Suzanna
authors: S
authors: Schraen
authors: Florence
authors: F
authors: Pasquier
authors: Dominique
authors: D
authors: Campion
authors: Didier
authors: D
authors: Hannequin
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000523:psychology*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D001057:Apolipoproteins E / Q000134:cerebrospinal fluid; D015415:Biomarkers / Q000134:cerebrospinal fluid; D000073885:C9orf72 Protein; D015331:Cohort Studies; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000523:psychology*; D005838:Genotype; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged; D011506:Proteins / Q000235:genetics*; D016875:tau Proteins / Q000134:cerebrospinal fluid
chemical_list: D016229:Amyloid beta-Peptides; D001057:Apolipoproteins E; D015415:Biomarkers; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins; D016875:tau Proteins