Orbitofrontal atrophy on MRI appears to be an indicator of C9orf72 repeat expansion status in FTD.

Niko Yli-Anttila¹, Eino Solje², Kalle Aho³, Kasper Katisko³, Ave Kivisild³, Helmi Soppela³, Johanna Krüger⁴, Päivi Hartikainen⁵, Jyrki Lötjönen⁶, Juhana Hakumäki⁷

¹Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland; Institute of Clinical Medicine - Radiology, University of Eastern Finland, Kuopio, Finland.

²Neuro Center - Neurology, Kuopio University Hospital, Kuopio, Finland; Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland.

³Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland.

⁴Research Unit of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland; Neurocenter, Neurology, Oulu University Hospital, Oulu, Finland; Medical Research Center, Oulu University Hospital, Oulu, Finland.

⁵Neuro Center - Neurology, Kuopio University Hospital, Kuopio, Finland.

⁶Combinostics Ltd., Tampere, Finland.

⁷Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland; Institute of Clinical Medicine - Radiology, University of Eastern Finland, Kuopio, Finland. Electronic address: juhana.hakumaki@uef.fi.

PubMed DOI

Abstract

Frontotemporal dementia (FTD) is an important group of neurodegenerative diseases causing early onset dementia. While FTD is mostly sporadic, a common cause of genetic FTD is the C9orf72 hexanucleotide repeat expansion (C9exp). To date, no imaging biomarkers have been identified for differentiating between sporadic and hereditary cases. In this study, we focused on MRI-based neuroanatomical compar…

Create a free account to keep reading

Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.

Create Free Account Sign In

Want unlimited research access? See Pro plans

Data Accuracy Notice: Research intelligence on Health AI Central is aggregated from public sources (PubMed, ClinicalTrials.gov, FDA, NIH, CMS, and others) and refreshed nightly. Classifications and derived metrics are produced by automated methods described in our Methodology. We recommend verifying critical data points against the primary sources before making decisions.