Neurology
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Alzheimer disease (AD) neuropathology is present in Down syndrome (DS) after age 35, but dementia onset varies from ages 40 to 70 years. Because of small sample sizes and nonuniform determination of dementia, previous studies produced differing results on the influence of APOE subtypes on AD in DS. ⋯ The epsilon2 allele confers a protective effect, and women with DS have an increased risk for AD, as in the general population. In this sample, epsilon4 does not confer a significantly increased risk for AD in DS.
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Cognitive processing in migraine is characterized by a loss of habituation during the interval and increased latencies in an attack. No studies are available on event-related potentials (ERPs) in cluster headache or chronic paroxysmal hemicrania. ⋯ Our data suggest that central structures generating ERPs are involved in the pathophysiology of cluster headache during the cluster period but not outside the cluster period. This is in concordance with recent neuroimaging findings on the central role of the hypothalamus and the right frontal cortex in cluster headache and supports the hypothesis of a central origin of cluster headache. Furthermore, the data suggest that cluster headache and chronic paroxysmal hemicrania are distinct entities.
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To determine the rate, clinical predictors, and cognitive consequences of MRI white matter hyperintensity evolution over 3 years. ⋯ White matter hyperintensities progress in elderly normal subjects. Our data may be used as a reference for future observational and interventional studies on white matter hyperintensity progression in various CNS diseases. The lack of an association between lesion progression and cognitive functioning needs to be explored further.
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Clinical Trial
Chronic subthalamic nucleus stimulation reduces medication requirements in Parkinson's disease.
To reduce antiparkinsonian medication in parkinsonian patients with bilateral high frequency subthalamic nucleus (STN) stimulation. ⋯ Parkinsonian signs can be controlled by bilateral high-frequency STN stimulation. The procedure is well tolerated. On-state dyskinesias were greatly reduced, probably due to the reduction of total antiparkinsonian medication. Bilateral high-frequency STN stimulation compensated for drug reduction and elicited dyskinesias, which differ from those observed following dopaminergic medication. ADL improved significantly, suggesting that some motor tasks performed during everyday chores, and that are not taken into account in the UPDRS motor score, also improved.
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Case Reports
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia. ⋯ The combination of episodic dysfunction and permanent deficit could depend on the variety of functions of calcium channels and their distribution in the nervous system.