Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Mar 2004
Association study of Notch 4 polymorphisms with Alzheimer's disease.
The NOTCH4 gene is located at 6p21.3, a site shown in several studies to have significant linkage with Alzheimer's disease. ⋯ No association between two NOTCH4 polymorphisms alone and Alzheimer's disease was observed in the three populations, but there was evidence of an increased risk associated with the 5'-UTR CC genotype in epsilon 4 bearers in the United Kingdom. As no functionality for this polymorphism could be determined, it is likely that the interaction is spurious or results from a linkage disequilibrium of this 5'-UTR polymorphism with another marker elsewhere in the 6p21.3 locus.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2004
Saccade dysfunction associated with chronic petrol sniffing and lead encephalopathy.
In chronic petrol sniffers, recent exposure to high levels of leaded petrol may give rise to a lead encephalopathy characterised by tremor, chorea, ataxia, hyperreflexia, convulsive seizures, and death. Neurological abnormalities associated with lead encephalopathy involve the cortex, basal ganglia, cerebellum, and brain stem. ⋯ Chronic petrol abuse is associated with cortical and basal ganglia abnormalities that are at least partially recoverable with abstinence. Additional long term cerebellar and brain stem abnormalities are associated with lead encephalopathy.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2004
Ictal magnetoencephalographic study in a patient with ring 20 syndrome.
To report the ictal magnetoencephalography (MEG) in a patient with ring chromosome 20 mosaicism, a rare chromosomal anomaly associated with intractable epilepsy. ⋯ The source of the ictal MEG was localised in the medial frontal lobe. The findings suggest that the mechanism underlying epilepsy in this case might be similar to medial frontal lobe epilepsy. Ictal MEG is a valuable tool for detecting the site of seizure onset.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2004
Coexistent blepharospasm and hemifacial spasm: overlapping pathophysiologic mechanism?
Blepharospasm (BEB) and hemifacial spasm (HFS) appear to be distinct disorders. Clinical characteristics of coexistent BEB and HFS have not been examined. The aim of this study was to determine the prevalence, clinical, and imaging features of coexistent BEB among a cohort of HFS patients and controls. ⋯ BEB occurred more frequently in HFS patients, suggesting changes in the brainstem blink reflex circuitry could play a modulatory role in certain at-risk individuals resulting in the coexistence of these movement disorders.