Presymptomatic spinal cord pathology in c9orf72 mutation carriers

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  • Cervical spinal cord (SC) magnetic resonance imaging readily captures presymptomatic pathological changes and disease propagation in C9orf72-associated conditions, which has implications for prognostication, genetic counseling, and future clinical trials.

Why this matters

  • Up to 40% of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases are caused by autosomal dominant hexanucleotide expansions in the noncoding region of the C9orf72 gene.

  • Recent imaging studies in asymptomatic C9orf72 carriers have demonstrated cerebral white (WM) and gray matter (GM) degeneration before the age of 40 years.

  • The relationship between repeat numbers and age of symptom onset is not firmly established and no validated prognostic indicators currently exist to predict the clinical manifestation of repeat expansions at the asymptomatic stages of ALS/FTD.

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