Ataxia with Oculomotor Apraxia-Type 1
- 257 Downloads
Ataxia with oculomotor apraxia-type 1 (AOA1) is an early onset ataxia with oculomotor apraxia and hypoalbuminemia. It is an autosomal recessive cerebellar ataxia (ARCA) associated with hypoalbuminemia and hypercholesterolemia. The responsible gene APTX, which encodes aprataxin, has recently been identified. In most families, the phenotype is characterized by early onset cerebellar ataxia, oculomotor apraxia, neuropathy, and mental retardation. The most distinctive clinical signs in AOA1 are abnormal eye movements including gaze-evoked nystagmus (100%), oculomotor apraxia (86%), saccadic pursuit, fixational instability, and excessive blinking. In advanced stages, oculomotor apraxia may be masked by progressive external ophthalmoparesis, beginning with upward vertical gaze palsy.
KeywordsCerebellar Ataxia Cerebellar Atrophy Axonal Neuropathy Oculomotor Apraxia Fixational Instability
Clip 1: the eye movement examination shows oculomotor apraxia in horizontal gaze. Clip 2: the patient has marked gait ataxia characterized by a wide-based gait. Upper extremities are also ataxic. (Video contribution from Dr. Susan Perlman, Department of Neurology at David Geffen School of Medicine at UCLA.)
Ataxia w AOA1.mp4 (MP4 6,732KB)
- 2.Inoue I, Izumi K, Matawari S, et al. Congenital ocular motor apraxia and cerebellar degeneration-report of two cases. Rinsho Shinkeigaku. 1971;11:855–61.Google Scholar