An early-onset autosomal recessive cerebellar ataxia characterized by peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia. Mutations in the APTX gene have been identified. OMIM: 208920
Also Known As:
Ataxia, Adult-Onset, With Oculomotor Apraxia; Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia; Ataxia-oculomotor apraxia 1; Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia; Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia; Early-onset cerebellar ataxia with hypoalbuminemia