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Neurogenetic markers may influence behavioural phenotypes, far away from the disease onset
  1. Daniela Perani1,2,3
  1. 1 School of Psychology, Vita-Salute San Raffaele University, Milano, Italy
  2. 2 In Vivo Human Molecular and Structural Neuroimaging Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy
  3. 3 Nuclear Medicine Unit, San Raffaele Hospital, Milan, Italy
  1. Correspondence to Professor Daniela Perani, Vita-Salute San Raffaele University, 20132 Milano, Italy; perani.daniela{at}

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Representation of C9orf72RE as a social cognition genetic endophenotype

Genetic endophenotypes mark the onset, clinical characteristics and disease severity in neurodegenerative diseases. The C9orf72 hexanucleotide repeat expansion (C9orf72RE) is the most common genetic cause of behavioural variant of frontal–temporal dementia (bvFTD). Dysfunctions in executive processes and social cognition represent the core symptoms of bvFTD, essential for clinical diagnosis. The presence of an extensive symptomatic overlap with psychiatric disorders, particularly for impaired social cognition is responsible for frequent misdiagnosis in the early phase of disease. Of relevance, bvFTD and psychiatric brain disorders share involvement of frontal–subcortical neuronal circuits, as confirmed by functional imaging studies.1 It is conceivable that C9orf72RE, and …

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  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

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