Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: Clinical and neuropathological characteristics

Maria Landqvist Waldö, Lars Gustafson, Karin Nilsson, Bryan J. Traynor, Alan E. Renton, Elisabet Englund, Ulla Passant

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


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.

Original languageEnglish
Pages (from-to)276-286
Number of pages11
JournalAmerican Journal of Neurodegenerative Diseases
Issue number4
StatePublished - 15 Dec 2013
Externally publishedYes


  • FTD
  • Genetics
  • Longitudinal study
  • Psychotic symptoms
  • TDP-43


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