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

American Journal of Neurodegenerative Disease

Karin Nilsson¹  Alan E Renton¹  Lars Gustafson¹  Elisabet Englund¹  Ulla Passant¹  Bryan J Traynor¹  Maria Landqvist Waldö¹ 

关键词: Genetics;    FTD;    longitudinal study;    psychotic symptoms;    TDP-43;   

DOI  :  

学科分类：精神健康和精神病学

来源: e-Century Publishing Corporation

【 摘 要 】

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.

【 授权许可】

Unknown