Objective: To delineate the ocular motor findings in spinocerebellar ataxia type  17 (SCA17).

Background: Even though the ocular motor findings largely overlap among spinocerebellar ataxia (SCA), the ocular motor phenotype may aid in differential diagnosis. This study defined the ocular motor findings in SCA17.

Method: From 2003 to 2019, we evaluated the ocular motor function insix patients with SCA17 at Seoul National University Bundang Hospital.

Results: Patients presented with gait difficulty (n=5), diplopia (n=1), cognitive impairment (n=1), motor weakness (n=1), and choreic movements (n=1). Neurological examination further documented cerebellar dysmetria (n=6), parkinsonism (n=4), and pyramidal signs (n=2). Except one with vertical pendular nystagmus without fixation, no one showed any spontaneous nystagmus. Patients had impaired smooth pursuit (n=6), central positional nystagmus (n=3), abnormal head-impulse tests (n=3), horizontal gaze-evoked nystagmus (n=2), , hypermetric saccades (n=2), impaired cancellation of the vestibulo-ocular reflex (VOR, n=1), diminished tilt suppression of post-rotatory nystagmus (n=1), and normal VOR gain but phase lead during low frequency rotation (n=1).

Conclusion: Various ocular motor abnormalities, along with progressive ataxia, parkinsonism, and pyramidal signs may guide the diagnosis of SCA17.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/ocular-motor-findings-in-spinocerebellar-ataxia-type-17/