Neural circuit involved in idiopathic infantile nystagmus syndrome based on FMRI

To identify the neural circuitry of idiopathic infantile nystagmus syndrome (INS), characterized by an early onset alternating series of slow and rapid eye movements that can manifest in different waveforms and genetic lines. The neural circuitry of INS is currently unknown.

A novel functional magnetic resonance imaging (fMRI) method, referred to as the null zone fMRI technique, was used to identify the neural circuitry for INS. In the null zone fMRI technique, a gaze position with minimal nystagmus within the null zone was linked to the fMRI "off" condition and a gaze position with robust nystagmus outside of the null zone was linked to the fMRI "on" condition. Eye movements were monitored with an fMRI compatible eye tracker and observed in real time to ensure subject compliance in "on" and "off" states. Subjects with INS (n = 4) included three family members (a mother and two daughters) with presumed autosomal dominant INS, as well as age- and gender-matched normal controls (n = 3).

Three of four subjects with INS demonstrated significant increased activation of the declive of the cerebellum, whereas no normal subjects under identical conditions showed activation of the declive of the cerebellum. Both groups showed significant activation in the occipital lobe (Brodmann areas 17, 18, 19, and cuneus).

A novel fMRI method demonstrated that the declive of the cerebellum is actively involved in INS. These are the first results to identify the cerebellum, and specifically the declive, as a possible site involved in the ocular motor dysfunction known as INS.