Article Text

other Versions

Download PDFPDF
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}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

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 …

View Full Text


  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

Linked Articles

  • Neurodegeneration
    James Rooney Isabella Fogh Henk-Jan Westeneng Alice Vajda Russell McLaughlin Mark Heverin Ashley Jones Ruben van Eijk Andrea Calvo Letizia Mazzini Christopher Shaw Karen Morrison Pamela J Shaw Wim Robberecht Phillip Van Damme Ammar Al-Chalabi Leonard van den Berg Adriano Chiò Jan Veldink Orla Hardiman