OMIM ID:
Oculomotor Apraxia
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
This is a disorder of impaired smooth ocular pursuit movements. Voluntary horizontal eye movements are absent or defective while vertical gaze and random eye movements are usually retained. Patients learn early to compensate by sharply turning the head in a jerky, thrusting fashion. The head turn often overshoots because the eyes tend to deviate in the opposite direction as a result of the vestibular reflex. Blinking is also sometimes employed to initiate eye movements. The condition is likely congenital in onset but it is not progressive. In fact, the ability to look from side to side improves in at least some patients.
Systemic Features
The small number of reported patients has limited description of the full phenotype but this seems to be a generalized neurological disorder. Patients have been reported with global developmental delay, hypotonia, cognitive delays, ataxia/clumsiness, and speech difficulties. Neuroimaging may reveal abnormalities in various brain stuctures including the cerebellum, cerebrum, vermis, and corpus callosum in 40% of patients.
Genetics
Inheritance
The genetics of isolated oculomotor apraxia is unknown since no responsible mutation has been identified. However, familial cases are known, including twins and sibling offspring of consanguineous matings, as well as multigenerational cases. This condition may be genetically heterogeneous since autosomal recessive and autosomal dominant transmission patterns seem equally likely. It may also be possible that the Cogan-type oculomotor apraxia is not a isolated entity but simply an associated sign as part of more generalized neurological disease.
Oculomotor apraxia may also be seen in ataxia-telangiectasia (208900), ataxia with oculomotor apraxia 1 (208920), ataxia with oculomotor apraxia 2 (602600) and in Gaucher disease (203800). It may be the presenting sign in the latter disease.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.