title: Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.
abstract: Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has recently been shown that the most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the hexanucleotide repeat region of C9ORF72 in a large cohort of patients with Alzheimer's disease (AD). A normal range of repeats was found in all cases. We conclude that the hexanucleotide repeat expansion is specific to the FTLD/ALS disease spectrum.
authors.affiliation: Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV Hill Building, Oxford Road, Manchester M13 9PT, UK.
authors.forename: Sara
authors.initials: S
authors.lastname: Rollinson
authors.forename: Nicola
authors.initials: N
authors.lastname: Halliwell
authors.forename: Kate
authors.initials: K
authors.lastname: Young
authors.forename: Janis Bennion
authors.initials: JB
authors.lastname: Callister
authors.forename: Greg
authors.initials: G
authors.lastname: Toulson
authors.forename: Linda
authors.initials: L
authors.lastname: Gibbons
authors.forename: Yvonne S
authors.initials: YS
authors.lastname: Davidson
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Robinson
authors.forename: Alex
authors.initials: A
authors.lastname: Gerhard
authors.forename: Anna
authors.initials: A
authors.lastname: Richardson
authors.forename: David
authors.initials: D
authors.lastname: Neary
authors.forename: Julie
authors.initials: J
authors.lastname: Snowden
authors.forename: David M A
authors.initials: DM
authors.lastname: Mann
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D000073885:C9orf72 Protein; D015897:Comorbidity; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000453:epidemiology / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009711:Nucleotides / Q000235:genetics*; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012307:Risk Factors; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D009711:Nucleotides; D011506:Proteins