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Prognostic factors in C9orf72 amyotrophic lateral sclerosis
  1. José Manuel Matamala,
  2. Thanuja Dharmadasa,
  3. Matthew C Kiernan
  1. Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia
  1. Correspondence to Dr José Manuel Matamala, Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, Sydney, NSW 2050, Australia; jose.matamalacapponi{at}sydney.edu.au

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Spinal-onset disease in male patients drives the poor survival in a large population of European ALS patients

The discovery of the C9orf72 hexanucleotide repeat expansion heralded significant advancement in the understanding of amyotrophic lateral sclerosis (ALS).1 ,2 Critically, the C9orf72 mutation represents the most common genetic cause of ALS (up to 50% of familial and 20% of sporadic ALS), responsible for the majority of motor and cognitive manifestations across the ALS–frontotemporal dementia (FTD) continuum.3–5 Pathologically, the C9orf72 mutation is associated with TDP-43 protein aggregation, the hallmark of ALS cases and is also present in 50% of FTD. The exact function of the normal C9orf72 protein remains undefined; however, it seems to play a major role in cellular trafficking, specifically in neurons. The loss of function …

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