Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology.
Kevin van VeenhuijzenHenk-Jan WestenengHarold H G TanAbram D NitertHannelore K van der BurghIsabel GosseltMichael A Van EsTanja C W NijboerJan Herman VeldinkLeonard H Van Den BergPublished in: Annals of neurology (2022)
In asymptomatic C9orf72 repeat expansion carriers, brain MRI reveals widespread features suggestive of impaired neurodevelopment, along with faster decline of motor and parietal cortex than found in normal aging. C9orf72 expression might play a role in cortical development, and consequently explain the specific brain abnormalities of mutation carriers. ANN NEUROL 2022.