Associate Professor Richard Roxburgh

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

Associate Professor

In: Medicine » School of Medicine » Faculty of Medical and Health Sciences

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