title: Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.
abstract: BACKGROUND
  In 2011 the C9ORF72 repeat expansion was identified as the most frequent genetic mutation underlying FTD and ALS. The main aim of this study was to investigate clinical characteristics in a large C9ORF72-positive FTD family, and to compare these with the neuropathological findings.
  
  
  METHODS
  The clinical records of 12 related FTD patients were thoroughly evaluated. The five neuropathologically examined cases were revised using additional TDP-43 immuno-stainings. Four cases were screened for the C9ORF72 expansion.
  
  
  RESULTS
  All 12 patients fulfilled the criteria for bvFTD. Restlessness and social neglect were often among the first reported symptoms. Psychotic symptoms were reported in 8 patients. Somatic complaints were seen in 7 cases. All the neuropathologically examined cases were TDP-43 positive.
  
  
  CONCLUSIONS
  The phenotype of this C9ORF72 hexanucleotide expansion carrier family was bvFTD. The clinical symptom profile was strikingly homogenous. Psychotic symptoms and somatic complaints were observed in most of the cases.
authors: Section of Geriatric Psychiatry, Department of Clinical Sciences, Lund University Klinikgatan 22, Lund SE-221 85, Sweden.
authors: Maria
authors: M
authors: Landqvist Waldö
authors: Lars
authors: L
authors: Gustafson
authors: Karin
authors: K
authors: Nilsson
authors: Bryan J
authors: BJ
authors: Traynor
authors: Alan E
authors: AE
authors: Renton
authors: Elisabet
authors: E
authors: Englund
authors: Ulla
authors: U
authors: Passant
keywords: FTD; Genetics; TDP-43; longitudinal study; psychotic symptoms