Disease Information for Ataxia/Oculomotor apraxia syndrome (9p13.3)

gene locus 9p13_3;ATAXIA-OCULOMOTOR APRAXIA SYNDROME [9p13_3]; an autosomal recessive syndrome that closely resembled ataxia-telangiectasia but differs in important respects; with a neurologic syndrome of oculomotor apraxia, ataxia, and choreoathetosis who had none of the extraneurologic features of AT; Although the neurologic signs were indistinguishable from those of AT, the onset tended to be later and none of the patients had a tendency to frequent infections; further, immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal; patients with autosomal recessive cerebellar ataxia, ocular apraxia, and peripheral neuropathy with a mean age of onset of 4_7 years. There was no associated mental retardation, telangiectasia, or immunodeficiency; Possibly may have exhibited supranuclear pseudo-ophthalmoplegia, which may be due to lesions in the nucleus pontis centralis caudalis of the paramedian pontine reticular formation;Clinical features include age of onset from 3 to 12 years, cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and external ophthalmoplegia, choreiform movements of the limbs, facial grimacing, mental deterioration, cerebellar atrophy, hypoalbuminemia, and hypercholesterolemia----------------[OMIM Nov 2004]----------------

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