title: Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.
abstract: Frontotemporal dementia (FTD) as an important clinical entity was rediscovered in Lund and Manchester in the early 1990s. Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.
authors.affiliation: Department of Pathology, Lund University, Regional Laboratories Region Skåne, Lund, Sweden.
authors.forename: Elisabet
authors.initials: E
authors.lastname: Englund
authors.forename: Lars
authors.initials: L
authors.lastname: Gustafson
authors.forename: Ulla
authors.initials: U
authors.lastname: Passant
authors.forename: Elisa
authors.initials: E
authors.lastname: Majounie
authors.forename: Alan E
authors.initials: AE
authors.lastname: Renton
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.forename: Kin
authors.initials: K
authors.lastname: Mok
authors.forename: John
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000073885:C9orf72 Protein; D057174:Frontotemporal Lobar Degeneration / Q000453:epidemiology* / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012307:Risk Factors; D013548:Sweden / Q000453:epidemiology
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D011506:Proteins