Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease
characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and …

{From the Division of Pediatric Neurology, New York Neurological Institute, Columbia-
Presbyterian Medical Center, New York City)"... reflexes are admirably adapted to certain …

AOA are autosomal recessive ataxias with a common feature of oculomotor apraxia (OA)-
inability to coordinate eye movements. The group includes AOA1 (APTX gene), relatively …

Ataxia with ocular apraxia type 2 (AOA2) is an autosomal recessive, early onset ataxia
caused by mutations in the senataxin (SETX) gene. Ocular apraxia and increased levels of …

Abstract BACKGROUND: Ocular Motor Apraxia (OMA) is a congenital ocular-motor anomaly
involving the intermittent inability to initiate horizontal saccades. Smooth pursuit movements …

Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive
cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait …

The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …

Dear Editor: Autosomal dominant optic atrophy (ADOA; MIM# 165500) is a hereditary optic
neuropathy characterized by:(1) symmetrical bilateral optic atrophy associated with reduced …

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive
neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main …