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The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with(More)
Somatosensory evoked potential (SEP) latencies, motor and sensory nerve conduction velocities (CVs), and F-wave latenies were measured in 15 elderly normal subjects (mean age 74.1 years), and the results were used to derive indirect estimates of spinal cord CVs. These measurements were compared to those from 15 younger normal adults (mean age 31.6 years),(More)
PURPOSE Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A.(More)
We used [18F]fluoro-2-deoxyglucose positron emission tomography (PET) to study serial changes in the local cerebral metabolic rate of glucose in 5 patients with ischemic lesions of the posterior afferent visual system causing homonymous visual field defects. All 5 patients had striking impairment of glucose metabolism in the striate cortex shortly after(More)
BACKGROUND Genetic studies of the Arabian Peninsula are scarce even though the region was the center of ancient trade routes and empires and may have been the southern corridor for the earliest human migration from Africa to Asia. A total of 120 mtDNA Saudi Arab lineages were analyzed for HVSI/II sequences and for haplogroup confirmatory coding diagnostic(More)
PURPOSE Glutathione S-transferases (GSTs) are a family of enzymes that inactivate xenobiotics and endogenous end products formed as secondary metabolites during oxidative stress. In humans, GSTT1 and GSTM1 deletion genotypes (T0M1, T1M0, and T0M0) are associated with a variety of pathologic processes including certain ophthalmologic diseases. METHODS We(More)
We performed visual contrast sensitivity testing with Regan's low-contrast letter charts on 30 patients with optic neuropathies and good Snellen visual acuity. Results of this testing were compared with color vision and the presence of an afferent pupillary defect. Regan's low-contrast letter charts were found to be 93% sensitive for detecting subtle optic(More)
PURPOSE The diagnoses of both anterior ischemic optic neuropathy (AION) and optic neuritis are clinical ones with significant overlap of symptoms and signs. This study investigates the presence and character of pain at the onset of AION, in order to evaluate this symptom as a differentiating diagnostic feature between optic neuritis and AION. METHODS(More)
PURPOSE Primary open-angle glaucoma (POAG) is the second most common cause of blindness. It has been linked to mutations in the myocilin (MYOC) and optineurin (OPTN) genes, although mutations have been found in <5% of patients. The pathologic mechanism(s) of POAG remain unknown but may include retinal ganglion cell apoptosis, which causes progressive damage(More)
Two patients with findings ascribable to superior branch oculomotor nerve paresis and one patient with findings ascribable to an inferior branch paresis are described. In each patient the paresis was caused by an intra-axial midbrain lesion. These patients represent the first described cases of divisional oculomotor nerve paresis caused by intrinsic(More)