Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype

Paola Origone, Jennifer Accardo, Simonetta Verdiani, Merit Lamp, Dario Arnaldi, Emilia Bellone, Agnese Picco, Silvia Morbelli, Paola Mandich, Flavio Nobili

Research output: Contribution to journalArticlepeer-review


Increasing evidence has shown that morphological and functional neuroimaging may help to understand the pathophysiological mechanisms leading to behavioral disturbances in patients with genetic or sporadic frontotemporal dementia (FTD). The C9orf72 expansion was found in association with the N267S TARDBP mutation in two siblings with behavioral-variant FTD (bvFTD). In one of them with very mild dementia, MRI showed symmetric atrophy of temporal, inferolateral and orbital frontal cortex, while [18F]FDG-PET disclosed more extended hypometabolism in dorsolateral and inferolateral frontal cortex, anterior cingulate, and caudate nucleus. Hypometabolism in right lateral and orbital frontal cortex was confirmed also in comparison with a group of sporadic bvFTD patients. These findings appear as the neuroimaging hallmark of double C9orf72 and TARDBP gene mutation with a bvFTD phenotype.

Original languageEnglish
Pages (from-to)529-534
Number of pages6
Issue number4
Publication statusPublished - Jul 4 2015


  • bvFTD
  • C9orf72
  • MRI

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)
  • Medicine(all)


Dive into the research topics of 'Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype'. Together they form a unique fingerprint.

Cite this