126 Copyright © 2016 Korean Neurological Association Ataxia with Oculomotor Apraxia Type 1 without

Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar ataxia, oculomo-tor apraxia (OMA), and peripheral axonal sensorimotor neuropathy.1 Dystonia, chorea, and cognitive impairment are commonly associated symptoms, and hypoalbuminemia and hy-percholesterolemia are often observed.2 AOA1 is caused by mutations of the gene encoding aprataxin (APTX).3 AOA1 has not been reported previously in Korea.5 The first case of AOA1 in Korea is presented here. In this patient, who did not exhibit OMA but had bilateral gaze-evoked nystagmus, the condition was caused by compound heterozy-gous mutations of APTX. A 32-year-old man presented with slowly progressive gait disturbance and unsteadiness that developed at the age of 14 years. He was the second child of healthy unrelated Korean parents without a family history of gait disturbance. He was diagnosed as having cerebellar at-rophy of unknown cause at the age of 17 years. His ataxic gait had progressively deteriorated and he had become confined to a wheelchair 2 years prior to presentation. A physical exami-nation revealed pes cavus but no scoliosis or other musculoskeletal deformity. A neurologi