Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic
disorder that is characterized clinically by the childhood onset of progressive cerebellar …

Dear Editor, Ataxia with oculomotor apraxia type 1 (AOA1, MIM 208920) is an autosomal
recessive disorder characterized by early-onset cerebellar ataxia, polyneuropathy …

This 24-year-old man with a family history of multiple consanguinities (Fig. 1) displayed
psychomotor delay and demonstrated staggering gait at age 26 months. He became unable …

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 a rare genetic disorder and is inherited in
an autosomal recessive manner. It is mainly characterized by childhood-onset progressive …

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

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 …

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

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 …