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 ...

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 ...

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 ...

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 ...

Figure 1: Seven pedigrees with EAOH linked to the short arm of chromosome 9. The 2.2-kb APTX mRNA is expressed ubiquitously , and at 57% of the normal level in lymphoblastoid cell lines from a patient ...

New insight into the link between neurodegenerative disorders and inflammation has been gained by a new study that provides a framework to explore more fully the possibility that viral infection may ...

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