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Early life involvement in C9orf72 repeat expansion carriers.

Flora GossinkAnnemiek DolsMax L StekPhilip ScheltensBas NijmeijerPetra Cohn HokkeAnke DijkstraFred Van RuissenCora AalfsYolande A L Pijnenburg
Published in: Journal of neurology, neurosurgery, and psychiatry (2021)
This is the first study thoroughly exploring biographies of bvFTD patients with C9orf72RE, revealing that subtle personality traits may be present early in life. Our study suggests that C9orf72RE exerts a lifelong neuropsychiatric vulnerability. This may strengthen hypotheses of links between neurodevelopmental and neurodegenerative diseases. Moreover, the presence of a distinct C9orf72RE -associated syndrome within the FTD spectrum opens doors for investigation of vulnerable neuronal networks.
Keyphrases
  • early life
  • blood brain barrier
  • brain injury