Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1 (AOA1),
an autosomal recessive disorder linked to chromosome 9p13. AOA1 seems to be one of the …

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 a recently described autosomal-recessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …

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 …

Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia
and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent …

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

The newly recognized ataxia–ocular apraxia 1 (AOA1; MIM 208920),,, is the most frequent
cause of autosomal recessive ataxia in Japan,,,,,, and is second only to Friedreich ataxia in …

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 …

Background: Early-onset ataxia with hypoalbuminemia is regarded as a variant form of
Friedreich ataxia in Japan. Early-onset ataxia with hypoalbuminemia and ataxia with ocular …

The authors report clinical and genetic study of 13 patients from three unrelated Tunisian
families with an early onset cerebellar ataxia associated with oculomotor apraxia. Cerebellar …