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identify these things earlier, we might be able to intervene, for example with gaze stabilisation exercises, when it’s more likely to make a difference.” Age of diagnosis varies considerably, from childhood to later in life, but Rachael says some ataxias that present in children as clumsiness and incoordination can take 10 years or more before the diagnosis is confirmed. “They may eventually end up in a wheelchair when there’s going to be less you can do about it. Earlier diagnosis means the physiotherapist could, for example, prescribe some specific exercises to help patients see and balance better.” Hereditary cerebellar diseases affect about 1-5 in every 100,000 people. One hundred and eighty-five patients with cerebellar ataxia are enrolled with Pūnaha Io, the New Zealand NeuroGenetic Registry & Biobank. Rachael says nearly 150 of these have an identified genetic cause – usually one of the so-called SCA (spinocerebellar ataxia) genes – and the research cohort will be recruited from this group. Rachael will study patients’ eye movements using infrared video oculography and has already collected preliminary data on around 50 people. One family member with the condition says, “I am extremely grateful for the research being done on this rare disease, as it will allow us to gain a much deeper insight and understanding of the condition and its symptoms, and will help us learn how to manage and live with the disease. The ongoing research is very promising for future generations who have inherited this condition, for which we are immensely grateful.” Rachael trained in Otago and Auckland before starting her clinical career as an audiologist in London. She completed her PhD at the University of Sydney, returning to the University of Auckland in 2018. With the award of an Aotearoa Fellowship from the Centre for Brain Research (CBR) and support from the departments of Physiology and Audiology, she established a vestibular research laboratory and formed a collaboration with the Neurogenetics Research Clinic in the CBR. She says the Neurogenetics Research Clinic allows vital information and findings to be disseminated among the various disciplines involved in the diagnosis and care of patients with cerebellar ataxia. “These are not conditions that affect just one body system – often they affect vision, hearing, vestibular function and the cerebellum, so fostering that collaboration between clinicians and disseminating that knowledge in our relative disciplines is really important.” “The ongoing research is very promising for future generationswho have inherited this condition, for whichwe are immensely grateful.” Research participant Headlines 13