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 ...

A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxiatelangiectasia. We report that senataxin, defective in ataxia ...

Figure 1: Haplotype analysis in Portuguese (AOA-P1, -P4, -P5, -P7 and -P11) and Japanese (AOA-J1, -J2 and -J3) families. Figure 4: Expression of mouse and human APTX. Figure 5: ClustalX sequence ...

Apraxia is an effect of neurological conditions, such as dementia, stroke, and head trauma. It causes people to be unable to carry out various movements and gestures. For example, a person with ...

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 ...

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