Hereditary ataxias are a group of devastating neurological disorders that affect coordination
of gait and are often associated with poor coordination of hands, speech, and eye …

Cerebellar ataxia is a disorder characterized by a broad spectrum of phenotypes. Ataxia with
oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease presenting with early …

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

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 …

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

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of
autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over …

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 with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in
an autosomal recessive manner. It is mainly characterized by childhood-onset progressive …