title: Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.
abstract: BACKGROUND
  Among patients with onset of dementia below the age of 65 years, frontotemporal dementia (FTD) is the second most prevalent cause, secondary only to Alzheimer's disease. Recent advances in understanding the heterogeneous genetic background for different clinical and neuropathological entities of FTD have involved identification of several new causative genes.
  
  
  RESULTS
  We report the finding of a truncating mutation in the CHMP2B gene (c.532-1G>C) in a patient with early onset dementia. The patient was previously not known to be related to the single Danish pedigree known to have this specific mutation. Subsequently he has turned out to represent a new branch of the family with several affected individuals.
  
  
  CONCLUSIONS
  Our findings highlight the need for awareness of the CHMP2B mutation and associated clinical phenotype for neurological assessment in Denmark. Further, we discuss recent advances and current concepts in the understanding of CHMP2B-related dementia.
authors.affiliation: Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Denmark.
authors.forename: S G
authors.initials: SG
authors.lastname: Lindquist
authors.forename: H
authors.initials: H
authors.lastname: Braedgaard
authors.forename: K
authors.initials: K
authors.lastname: Svenstrup
authors.forename: A M
authors.initials: AM
authors.lastname: Isaacs
authors.forename: J E
authors.initials: JE
authors.lastname: Nielsen
mesh_terms: D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D056827:Endosomal Sorting Complexes Required for Transport; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins