Neurology
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Virtually all individuals with Down syndrome (DS) have neuropathologic changes characteristic of Alzheimer's disease (AD) beginning at 40 years of age. Few studies have examined factors that influence age at onset of AD in DS. We investigated whether sex differences in age at onset and risk of AD among adults with DS are similar to those observed in the general population and whether the effect of sex on risk of AD is modified by apolipoprotein E (APOE) genotype. ⋯ Both male gender and the presence of an APOE epsilon4 allele were associated with an earlier onset of AD. Compared with women, men with DS were three times as likely to develop AD. Compared with those with the APOE 3/3 genotype, adults with DS with the 3/4 or 4/4 genotypes were four times as likely to develop AD. No individual with an APOE epsilon2 allele developed AD. No evidence of interaction of sex and APOE genotype was found in risk of AD. The higher risk of AD in men may be related to differences in hormonal function between men and women with DS that are distinct from those in the general population.
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To demonstrate that measurement of endogenous neopterin levels in unstimulated lymphoblasts identifies inherited GTP cyclohydrolase 1 (GCH1) dysfunction and can be a diagnostic test for dopa-responsive dystonia (DRD). ⋯ Endogenous neopterin measurement in unstimulated lymphoblasts is an accurate tool to identify dysfunctional GCH1 and a potential specific diagnostic marker for dysfunctional GCH1 in DRD and other neurologic disorders. Not all mutations in GCH1 affect GCH1 enzyme activity. PHA induction alone, previously used by others, may result in incorrect identification of GCH1 dysfunction in DRD.
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We studied 100 consecutive acute stroke patients in a Chinese population with transcranial Doppler and CT. Twenty patients had intracerebral hemorrhage and 14 patients did not have adequate temporal windows for transcranial Doppler examination. Among the remaining 66 patients, 22 patients (33%) had intracranial occlusive diseases and 3 (6%) had extracranial carotid stenosis. Our data showed that intracranial occlusive disease is the most commonly found vascular lesion in our acute stroke patients.
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Comparative Study
Apolipoprotein E genotype influences cognitive 'phenotype' in patients with Alzheimer's disease but not in healthy control subjects.
We examined the association of apolipoprotein E (apo E) genotype with cognitive performance in Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI) patients and in normal subjects. One hundred fifty-seven AD patients, 35 MCI patients who developed AD during longitudinal follow-up, and 341 normal control subjects from the Mayo Clinic Alzheimer's Disease Patient Registry were studied. All participants were typed for apo E using polymerase chain reaction-based assay, epsilon 4+ and epsilon 4- groups were compared on cognitive factor scores of Verbal Comprehension, Perceptual Organization, Attention/Concentration, Learning, and Retention. ⋯ In the AD and MCI samples, epsilon 4+ status was associated with greater memory impairment in analyses including duration of illness as a covariate. In combined AD + MCI analyses, epsilon 4 homozygosity was associated with poorer retention, learning, and verbal comprehension at a given disease duration. Possession of the epsilon 4 genotype may influence cognition in a dose-response relationship.
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Comparative Study Clinical Trial Controlled Clinical Trial
Controlled trial of ketorolac in tension-type headache.
Intramuscular ketorolac 60 mg, meperidine 50 mg plus promethazine 25 mg, and normal saline were compared in acute exacerbations of tension-type headache. Forty-one subjects (30 females and 11 males) were randomized into three groups and evaluated by the McGill Short-Form Pain Questionnaire before treatment, and 0.5, 1, 2, 3, 4, 5, and 6 hours after treatment. ⋯ Meperidine and placebo did not differ at any time point. Ketorolac is effective in short-term treatment of tension-type headache.