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Am J Neurodegener Dis 2013;2(4):276-286

Original Article
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

Section of Geriatric Psychiatry, Department of Clinical Sciences, Lund University, Klinikgatan 22, Lund SE-221 85,
Sweden; Section of Pathology, Department of Clinical Sciences, Lund University, Lund, SE-221 85, Sweden; Laboratory
of Neurogenetics, NIA, NIH, 35 Convent Drive, Room 1A-1000, Bethesda, MD 20892

Received September 27, 2013; Accepted November 5, 2013; Epub November 29, 2013; Published December 15, 2013

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. (AJND1309004).

Keywords: Genetics, FTD, longitudinal study, psychotic symptoms, TDP-43

Address correspondence to: Dr. Maria Landqvist Waldö, Section of Geriatric Psychiatry, Department of Clinical
Sciences, Lund University, Klinikgatan 22, Lund SE-221 85, Sweden. E-mail: maria.landqvist@med.lu.se