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Editorial commentary
Consideration of C9orf72-associated ALS-FTD as a neurodevel­opmental disorder: insights from neuroimaging
  1. Peter Bede,
  2. We Fong Siah,
  3. Mary Clare McKenna,
  4. Stacey Li Hi Shing
  1. Computational Neuroimaging Group, Trinity College Dublin, Dublin, Ireland
  1. Correspondence to Prof Peter Bede, Computational Neuroimaging Group, Trinity College Dublin, Dublin, Ireland; bedep{at}tcd.ie

https://doi.org/10.1136/jnnp-2020-324416

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    Computational neuroimaging captures pathological changes in young C9orf72 hexanucleotide repeat carriers suggesting that neurodevelopmental rather than neurodegenerative changes may be at play.

    The presymptomatic phase of amyotrophic lateral sclerosis (ALS) has long been of academic interest, but with the emergence of antisense oligonucleotide therapies,1 the characterisation of presymptomatic disease burden has now gained practical relevance. While radiological2 3 and electrophysiological4 alterations have previously been described in asymptomatic mutations carriers, Lulé et al 5 have conducted a particularly elegant longitudinal study using a comprehensive neuroimaging-neuropsychology protocol. Her team identified considerable orbitofrontal white matter changes, verbal fluency and memory deficits in seemingly asymptomatic GGGGCC hexanucleotide repeat carriers in their 40s.

    Given the accruing evidence that marked radiological changes can be observed in C9orf72 hexanucleotide carriers by the time they reach 40 despite the detection limitations of our current imaging modalities, …

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    Footnotes

    • Contributors All authors contributed equally.

    • Funding Peter Bede is supported by the Spastic Paraplegia Foundation (SPF), the Health Research Board (HRB EIA-2017-019), the EU Joint Programme—Neurodegenerative Disease Research, the Andrew Lydon scholarship, the Irish Institute of Clinical Neuroscience, and the Iris O'Brien Foundation; he is the patron of the Irish Motor Neuron Disease Association.

    • Disclaimer The sponsors of the authors had no bearing on the opinions expressed herein.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Commissioned; internally peer reviewed.

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