Molecular Biology: Open Access

ISSN: 2168-9547

Open Access

Functional MRI in Patients with the C9ORF72 Expansion Associate Frontotemporal Dementia


Rytty Riikka, Nikkinen Juha, Suhonen Noora, Moilanen Virpi, Renton Alan E, Traynor Bryan J, Tervonen Osmo, Kiviniemi Vesa MD and Remes Anne M

Functional MRI studies have revealed connectivity changes in several brain networks in patients with neurodegenerative diseases and imaging genomics is an emerging field to investigate the role of genetics in brain function. A hexanucleotide repeat expansion in open reading frame in chromosome 9 (C9ORF72) is a common cause of familial frontotemporal dementia. The aim of this study was to evaluate resting state networks in behavioral variant frontotemporal dementia (bvFTD) patients with the C9ORF72 expansion by using functional MRI. Seven patients and matched healthy controls were examined. The group specific resting state networks were identified by independent component analysis and the dual regression technique was used to detect between-group differences in the resting state networks with p<0.05 threshold corrected for multiple comparisons. Increased anti-correlation between bilateral thalamic parts of the salience network and anterior sub-network of the Default mode network (DMN) was found in patients with the C9ORF72 expansion. In addition, increased resting state connectivity was detected in the right-sided dorsal attention network. The changes in these cognitive networks may explain executive dysfunction as well as neuropsychiatric symptoms in patients with bvFTD.


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