Importance Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive
cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by …

Missense and truncating mutation in APTX gene are responsible of ataxia with oculomotor
apraxia type 1 (AOA1) an autosomal recessive disorder characterized by early onset …

Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder
characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral …

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to
mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral …

Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia–oculomotor
apraxia 1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. We …

Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive
ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically …

Background Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive
disease caused bySETXmutations in 9q34 resulting in cerebellar ataxia in association with …

Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive
disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with …

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

Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …