Mechanisms underlying neurocognitive changes in cystinosis

Cystinosis has long been known for its significant impact on renal and thyroid function. It is only in recent years, however, due to the emergence of effective life‐prolonging treatment regimens for these primary clinical symptoms, that researchers and clinicians have been able to turn greater attention to the concomitant impacts this disease has on brain function. 

Our goal is to explore sensory processing and multisensory integration in cystinosis using high‐density
electrophysiological mapping techniques.

Auditory, visual and multisensory integration tasks  are used in conjunction with high‐density event‐related potential (ERP) recordings to interrogate the fidelity of sensory processing mechanisms in the cortex of patients with cystinosis. These measures will allow for comparison of processing deficits across sensory systems and provide insights into the cortical level at which deficits may be emerging. They will also provide precise measures of the timing of information flow through cortex. These easy‐to‐obtain sensory assays will be evaluated for potential utility as biomarkers of disease progression and its amelioration in cystinosis.

We also carry out comprehensive neuropsychological phenotyping of the patients, thus giving us the potential to relate
the neurophysiological measures of disease, collected above, to symptom expression and disease severity.

For more information, contact Ana Francisco at

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