The fear of Alzheimer's disease for both patients and families is growing along with the increasing evidence of the disease itself. This study (N = 312) of the validity of the clock drawing test in screening patients with probable Alzheimer's disease was conducted in an active outpatient geriatric clinic. Clock drawings by patients with normal mental status or depression were essentially normal. Alzheimer's patients were unable to complete a normal clock and demonstrated five characteristically abnormal patterns. As a test for Alzheimer's disease, clock drawing had a sensitivity of 86.7% and a specificity of 92.7%. There was correct identification in 97.2% of normals. These findings indicate that the clock drawing test, an easily administered, low cost screening tool, can be useful to health care professionals in characterizing cognitive loss in a general geriatric clinic population.
At an active outpatient geriatric program the gerontological team observed that Alzheimer patients appear to have fewer physical ailments than other elderly patients. To test this hypothesis, we reviewed a sample of 348 clinic patients. One hundred forty-three had a normal mental status; 75 had Alzheimer's disease as defined by DSM-III criteria; 139 had an abnormal mental status attributed to other etiologies. The number of diagnoses was compiled in each of the three groups. The average number of diagnoses in the nondemented group was 5.0 in males, 5.4 in females. In the non-Alzheimer abnormal mental status group, the average number was 5.5 in males, 4.6 in females. In contrast, the number of diagnoses in the Alzheimer group was 2.9 in males and 2.8 in females (P less than 0.0001). Cardiovascular diseases, hypertension, and cerebrovascular accidents were less frequent in the Alzheimer population. This study suggests that Alzheimer patients are physically healthier than non-Alzheimer elderly patients.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or coma and apnea. Hyperammonemia is variable. There is a characteristic absence of ketosis. Considerable heterogeneity has been observed in clinical and biochemical presentation. Acute episodes of illness have been mistaken for Reye syndrome. The pattern of organic acids in the urine includes large amounts of 3-hydroxy-3-methylglutaric, 3-methyl-glutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. Smaller, but appreciable levels of glutaric, adipic and other dicarboxylic acids may also be excreted in the urine. Lactic acid may be present in sizable amounts at times of acute illness. The primary defect is a deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A lyase, a key enzyme in the cycle of ketogenesis.
The homeodomain transcription factors sine oculis homeobox 3 (Six3) and ventral anterior homeobox 1 (Vax1) are required for brain development. Their expression in specific brain areas is maintained in adulthood, where their functions are poorly understood. To identify the roles of Six3 and Vax1 in neurons, we conditionally deleted each gene using Synapsin cre , a promoter targeting maturing neurons, and generated
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