The molecular genetic analysis demonstrated the APTX mutation W279X at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment.
[11] Neuropsychologic testing of six patients with a normal IQ score revealed cognitive deficits characteristic of subcortical syndrome. The diagnosis of ataxia with oculomotor apraxia is based on ...
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