Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians?

@article{Ducharme2017PsychiatricPO,
  title={Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians?},
  author={Simon Ducharme and Sepideh Bajestan and Bradford C. Dickerson and Valerie Voon},
  journal={The Journal of neuropsychiatry and clinical neurosciences},
  year={2017},
  volume={29 3},
  pages={
          195-205
        }
}
The C9orf72 mutation was identified as the most frequent genetic cause of frontotemporal dementia (FTD). In light of multiple reports of predominant psychiatric presentations of FTD secondary to C9orf72 mutation, the American Neuropsychiatric Association Committee on Research reviewed all studies on psychiatric aspects of this mutation to identify clinically relevant features for diagnosis. The most common psychiatric presentation is psychosis (21%-56%), with delusions, and/or multimodal… CONTINUE READING
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