title: Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.
abstract: OBJECTIVE
  To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia-amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia-amyotrophic lateral sclerosis-causing mutations.
  
  
  METHODS
  Report of a kindred.
  
  
  METHODS
  Dementia center at a university hospital.
  
  
  METHODS
  One kindred encompassing 3 generations.
  
  
  RESULTS
  The presence of a hexanucleotide (GGGGCC) expansion in C9orf72 was confirmed by repeat-primed polymerase chain reaction and Southern blot. The observed phenotypes were behavioral variant frontotemporal dementia and amyotrophic lateral sclerosis with dementia, with significant variability in age at onset and duration of disease. Parkinsonian features with focal dystonia, visual hallucinations, and more posterior atrophy on neuroimaging than is typical for frontotemporal dementia were seen.
  
  
  CONCLUSIONS
  Behavioral variant frontotemporal dementia due to C9orf72 expansion displays some phenotypic heterogeneity and may be associated with hallucinations, parkinsonism, focal dystonia, and posterior brain atrophy. Personality changes may precede the diagnosis of dementia by many years and may be a distinguishing feature of this mutation.
authors.affiliation: Memory and AgingCenter, University of California, San Francisco, 350 Parnassus Ave, Ste 905, San Francisco, CA 94143-1207, USA. ltakada@memory.ucsf.edu
authors.forename: Leonel T
authors.initials: LT
authors.lastname: Takada
authors.forename: Maria Lucia V
authors.initials: ML
authors.lastname: Pimentel
authors.forename: Mariely
authors.initials: M
authors.lastname: Dejesus-Hernandez
authors.forename: Jamie C
authors.initials: JC
authors.lastname: Fong
authors.forename: Jennifer S
authors.initials: JS
authors.lastname: Yokoyama
authors.forename: Anna
authors.initials: A
authors.lastname: Karydas
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Thibodeau
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Rutherford
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Baker
authors.forename: Catherine
authors.initials: C
authors.lastname: Lomen-Hoerth
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.forename: Bruce L
authors.initials: BL
authors.lastname: Miller
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D001938:Brazil; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D005190:Family; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059906:Neuroimaging; D010375:Pedigree; D010551:Personality / Q000235:genetics; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins