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Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort
  1. Paul Talman1,
  2. Thi Duong2,
  3. Steve Vucic3,
  4. Susan Mathers4,
  5. Svetha Venkatesh2,
  6. Robert Henderson5,6,
  7. Dominic Rowe7,
  8. David Schultz8,
  9. Robert Edis9,
  10. Merrilee Needham10,
  11. Richard Macdonnell11,
  12. Pamela McCombe12,
  13. Carol Birks13,
  14. Matthew Kiernan14
  1. 1Neurosciences Department, University Hospital Geelong, Geelong, Victoria, Australia
  2. 2Center for Pattern Recognition and Data Analytics (PRaDa), Deakin University, Waurn Ponds, Geelong, Victoria, Australia
  3. 3St Joseph's Hospital Nomanby Road, Auburn, New South Wales, Australia
  4. 4Calvary Healthcare Bethlehem Hospital Neuro-Consultancy, South Caulfield, Victoria, Australia
  5. 5Department of Neurology, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia
  6. 6Caulfield, Victoria, Australia
  7. 7Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia
  8. 8Department of Neurology, Flinders Medical Centre, Flinders Drive, Bedford Park, South Australia, Australia
  9. 9Royal Perth Hospital, Shenton Park Campus Selby Street, Shenton Park, Western Australia, Australia
  10. 10Neurosciences Department, Fiona Stanley Hospital Murdoch, Western Australia, Australia
  11. 11Neurosciences Department, Austin Health Studly Road, Heidelberg, Victoria, Australia
  12. 12Department of Neurology, University of Queensland Centre for Clinical Research and Royal Brisbane and Women's Hospital, Herston Road, Queensland, Australia
  13. 13Motor Neurone Disease Association of Australia, Australia
  14. 14Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia
  1. Correspondence to Dr Paul Talman; pault{at}


Objective To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia.

Methods Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death.

Design Prospective observational cohort study.

Participants 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015.

Results 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p<0.004). There were delays in the median time to diagnosis of up to 12 months for the ALS phenotypes, 18 months for the flail limb phenotypes and 19 months for PLS. Riluzole treatment was started in 78–85% of cases. The median delays in initiating riluzole therapy, from symptom onset, varied from 10 to 12 months in the ALS phenotypes and 15–18 months in the flail limb phenotypes. Percutaneous endoscopic gastrostomy was implemented in 8–36% of ALS phenotypes and 2–9% of the flail phenotypes. Non-invasive ventilation was started in 16–22% of ALS phenotypes and 21–29% of flail phenotypes.

Conclusions The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.


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