Ataxia with oculomotor apraxia is an autosomal recessive disease, originally described in Portuguese patients and later in Japanese patients. Symptoms first noticed appear between ages 1 and 16 years ...

The patient was a 67-year-old Japanese woman, who was born to consanguineous parents and attained normal developmental milestones during infancy. At ∼17 years old, she began falling frequently while ...

Autosomal recessive cerebellar ataxias (ARCAs) are rare and early-disabling neurodegenerative-movement disorders caused by dysfunction in the cerebellum. The most common form is Friedreich ataxia. A ...

Several different autosomal recessive genetic disorders characterized by ataxia with oculomotor apraxia (AOA) have been identified with the unifying feature of defective DNA damage recognition and/or ...

Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral ...