Oculomotor apraxia (OMA) is the absence or defect of controlled, voluntary, and purposeful eye movement.
If any part of the brain that controls eye movement becomes damaged, then OMA may develop.
The FEF control voluntary eye movements, including saccades, smooth pursuit and vergence.
[3] Although people with either type may have some mild cognitive problems, such as difficulty with concentration or performing multi-step activities, intellectual function is usually not affected.
Elevated creatine kinase is occasionally present, in addition to a sensorimotor axonal neuropathy, as shown by nerve conduction velocity studies.
[8] APTX is recruited to DNA single-strand breaks by XRCC1 protein, where it functions as a nick sensor to scan the single-strand breaks for 5'-AMP obstructive termini that are intermediates in failed DNA ligase reactions.
It is not yet clear which specific single-strand breaks are the neurodegenerative agents in AOA1 patients that lack functional aprataxin protein.
[6] Although there is no sign of mental retardation or severe dementia, even after long disease duration, research on families with possible AOA2 have shown mild cognitive impairment as indexed by the mini–mental state examination (MMSE) and the Mattis dementia rating scale.
[10][11] Telangiectasias are widened blood vessels that can develop anywhere on the skin, mucous membranes, whites of the eyes, and even in the brain.
Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal cell death in various places of the body, including brain areas related to coordinated movement of the eyes.