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

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 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 …

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

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset
progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and …

Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia
(ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia …

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 …

Ataxia, although rare, can be a symptom of many debilitating movement disorders.
Hereditary ataxias are one subset of this condition and manifest when there is a genetic …

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 is an autosomal recessive inherited disease characterized
by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive …