Associate Professor Richard Roxburgh

BSc (Maths) MB ChB (Otago) PhD (Cambridge)

Biography

After training at Otakou Medical School, Richard specialised in Neurology doing his advanced training in Manchester, Cambridge and Queens' Square, London. He subspecialised in Neurogenetics and completed his PhD in the Neurogenetics of multiple sclerosis in 2003, during which time he developed the Multiple Sclerosis Severity Score which is now the standard method for assessing disease severity in Multiple Sclerosis. 

Returning to New Zealnd in 2003 he established New Zealand's only Neurogenetic clinic at Auckland City Hospital where he sees patients with a wide number neurological conditions from muscular dystrophy to ataxias, hereditary spastic paraparesis to Huntington's disease. 

He has established the New Zealand Neuromuscular Disease Registry and the New Zealand Motor Neurone Disease Registry for the express purpose of lowering the barriers for New Zealanders to get access to research and clinical trials. 

He is the New Zealand PI for the Enroll-HD study, an international longitudinal study of over 20 000 people whose families have Huntington's Disease and for the upcoming treatment trial Generation-HD which will be trialling an intrathecal antisense oligonucleotide aimed at reducing levels of brain huntingtin protein. 

 

Selected publications and creative works (Research Outputs)

  • Beecroft, S. J., Cortese, A., Sullivan, R., Yau, W. Y., Dyer, Z., Wu, T. Y., ... Taylor, R. (2020). A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain : a journal of neurology, 143 (9), 2673-2680. 10.1093/brain/awaa203
    Other University of Auckland co-authors: Miriam Rodrigues
  • Hardy, T. A., Taylor, R. L., Qiu, J., O'Brien B, Gopinath, S., Trewin, B., ... Garsia, R. J. (2020). The neuro-otology of Susac syndrome. JOURNAL OF NEUROLOGY10.1007/s00415-020-10086-0
  • Cortese, A., Tozza, S., Yau, W. Y., Rossi, S., Beecroft, S. J., Jaunmuktane, Z., ... Mossman, S. (2020). Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain : a journal of neurology, 143 (2), 480-490. 10.1093/brain/awz418
  • Roux, T., Barbier, M., Papin, M., Davoine, C. S., Sayah, S., Coarelli, G., ... Tranchant, C. (2020). Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in Medicine10.1038/s41436-020-0899-x
  • Zhou, Y., Claflin, S. B., Stankovich, J., van der Mei, I., Simpson, S., Roxburgh, R. H., ... Alroughani, R. (2019). Redefining the Multiple Sclerosis Severity Score (MSSS): The effect of sex and onset phenotype. MULTIPLE SCLEROSIS JOURNAL10.1177/1352458519881994
  • Pelosi, L., Iodice, R., Antenora, A., Kilfoyle, D., Mulroy, E., Rodrigues, M., ... Manganelli, F. (2019). Spinocerebellar ataxia type 2-neuronopathy or neuropathy?. Muscle & nerve, 60 (3), 271-278. 10.1002/mus.26613
    Other University of Auckland co-authors: Miriam Rodrigues
  • Wood, L., Bassez, G., Bleyenheuft, C., Campbell, C., Cossette, L., Jimenez-Moreno, A. C., ... Dogan, C. (2019). Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet journal of rare diseases, 14 (1)10.1186/s13023-019-1157-7
    Other University of Auckland co-authors: Miriam Rodrigues
  • Theadom, A., Roxburgh, R., MacAulay, E., O'Grady G, Burns, J., Parmar, P., ... Impact CMT Research Group (2019). Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study. BMJ open, 9 (6)10.1136/bmjopen-2019-029240
    Other University of Auckland co-authors: Miriam Rodrigues

Contact details

Primary office location

M&HS BUILDING 507 - Bldg 507
Level 2, Room 2014
28 PARK AVE
GRAFTON
AUCKLAND 1023
New Zealand