Psychopathology in premanifest C9orf72 repeat expansion carriers

The clinical phenotype of behavioural variant frontotemporal dementia (bvFTD) is characterised by neuropsychiatric symptoms, including loss of empathy, compulsive behaviour, behavioural disinhibition and apathy. An expansion of a hexanucleotide (GGGGCC) repeat in the chromosome 9 open reading frame 72 gene (c9orf72RE) is the most common genetic cause of bvFTD. Neurobiological and behavioural changes have been evidenced in carriers of c9orf72RE, decades before the estimated onset of symptoms. Recently, Gossink and colleagues investigated the hypothesis that the c9orf72RE genotype phenotypically could encompass a neuropsychiatric hypervulnerability, emerging during early childhood. They used clinical case-record data and performed semistructured biographical interviews with spouses, first-degree relatives and patients with bvFTD with (N=20) and without (N=23) c9orf72RE. The results revealed limited empathic behaviour early in life and increased rates of compulsive personality traits in c9orf72RE carriers.1

Notably, the c9orf72RE does not only cause bvFTD but may also result in amyotrophic lateral sclerosis (ALS), in…

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