Facial frequency manipulation normalizes face discrimination in AD.

People with AD have deficient contrast sensitivity and impaired face discrimination. The authors presented photographs of unfamiliar faces of three different sizes to enhance the low, middle, or high facial frequency information (cycles per face). Patients with AD demonstrated normal discrimination of small faces only, indicating that impaired contrast sensitivity at low facial frequencies contributes to their poor face discrimination.

Head injury and the risk of AD in the MIRAGE study.

OBJECTIVES: It has been suggested in some studies that head injury is a risk factor for AD, and that this risk is heightened among carriers of the APOE-epsilon4 allele. We examined the effects of head injury and APOE genotype on AD risk in a large family study. SUBJECTS: A total of 2,233 probands who met criteria for probable or definite AD and their 14,668 first-degree family members (4,465 parents, 7,694 siblings, and 2,509 spouses) were ascertained at 13 centers in the United States, Canada, and Germany participating in the MIRAGE (Multi-Institutional Research in Alzheimer Genetic Epidemiology) project. Information on head injury was collected by interview of multiple informants and review of medical records. Nondemented relatives and spouses served as control subjects for this study. METHODS: Odds of AD for head trauma with or without loss of consciousness were computed by comparing probands with unaffected spouses using conditional logistic regression analysis. To account for the unique biologic relationship between probands and their parents and siblings, odds of AD were computed using a generalized estimating equation (GEE) Poisson regression approach. GEE logistic regression was used to examine the joint effects of APOE genotype and head injury on the odds of AD in probands and a control group comprised of unaffected siblings and spouses. RESULTS: Comparison of probands with their unaffected spouses yielded odds ratios for AD of 9.9 (95% CI, 6.5 to 15.1) for head injury with loss of consciousness and 3.1 (2.3 to 4.0) for head injury without loss of consciousness. The corresponding odds derived from the comparison of probands with their parents and sibs were 4.0 (2.9 to 5.5) for head injury with loss of consciousness and 2.0 (1.5 to 2.7) for head injury without loss of consciousness. Head injury without loss of consciousness did not significantly increase the risk of AD in spouses (OR = 1.3; 95% CI, 0.4 to 4.1). The joint effects of head injury and APOE genotype were evaluated in a subsample of 942 probands and 327 controls (spouses and siblings). Head injury increased the odds of AD to a greater extent among those lacking epsilon4 (OR = 3.3) than among epsilon4 heterozygotes (OR = 1.8) or homozygotes (OR = 1.3). CONCLUSION: Head injury is a risk factor for AD. The magnitude of the risk is proportional to severity and heightened among first-degree relatives of AD patients. The influence of head injury on the risk of AD appears to be greater among persons lacking APOE-epsilon4 compared with those having one or two epsilon4 alleles, suggesting that these risk factors may have a common biologic underpinning.

No association between the HLA-A2 allele and Alzheimer disease.

The apolipoprotein E (APOE)-4 allele is a major risk factor for late-onset Alzheimer disease (AD), but it does not account for all the genetic variation in late-onset AD; thus, other genetic markers must be examined. Previous studies suggest an HLA-A2 allele association with risk and earlier onset age of AD. Because these effects may be additive to those of APOE-4, we studied HLA-A2 and APOE-4 frequencies in AD patients and cognitively intact controls. A total of 712 unrelated Caucasian subjects included 479 patients with AD (435 sporadic, 44 familial) and 233 controls. Patients (mean+/-SD age 73.9+/-7.9 years, range 42-93 years) had probable AD, according to standard diagnostic criteria; controls (mean+/-SD age 70.4+/-8.5 years, range 37-92 years) were cognitively intact. APOE and HLA-A2 typing used polymerase chain reaction to indicate the number of APOE-4 alleles present as well as the presence (A1/A2, A2/A2 genotypes) or absence (A1/A1 genotype) of HLA-A2. A two-way analysis of variance was used to assess the effect of the HLA-A2 allele on age at onset of dementia. No association between HLA-A2 and APOE-4 was found, and the presence of HLA-A2 allele did not increase AD risk. There was also no evidence for an association between HLA-A2 and earlier onset age of AD. Examination age, sex, family history of AD, and recruitment site had no influence on these results. In conclusion, the HLA-A2 allele did not influence AD risk or onset age in this study population. A2 heterozygosity, and population differences, including stratification sub-structures, and other undetermined factors could contribute to discrepant findings among studies.

Pharmacologic treatment of cognitive deficits: a case study.

Traumatic brain injury (TBI) is associated with a variety of cognitive and behavioural disorders. A few reports have suggested that pharmacotherapy might be useful in the management of these disorders. We present a case of a patient who suffered a left subdural hematoma and herniated. Several months after the injury, his function was severely limited. Nevertheless, he demonstrated a clear improvement in response to oral methylphenidate and parenteral physostigmine. We conclude that specific pharmacotherapy may result in major cognitive and functional improvements in severely impaired patients.

Pure word deafness. Analysis of a case with bilateral lesions and a defect at the prephonemic level.

We have demonstrated that the deficit in speech perception in our patient with pure word deafness is secondary to a prephonemic temporal auditory acuity disorder. We delineated the nature of the auditory processing deficit in our patient with bilateral lesions and then demonstrated the presence of a predicted deficit in phonemic discrimination. This pattern is comparable to previous cases with bilateral lesions and distinct from other cases with unilateral lesions. Review of previous reports suggests that there are two distinct types of pure word deafness: type 1, in which the deficit is prephonemic and related to a temporal auditory acuity disorder, and type 2, a form that is independent of a temporal auditory acuity disorder, and has a deficit in linguistic discrimination that does not adhere to a prephonemic pattern (Denes and Semenza, 1975; Saffran et al., 1976). The former has been associated with bilateral temporal lobe lesions (Naeser, 1974; Chocholle et al., 1975), the latter with left unilateral lesions (Denes and Semenza, 1975; Saffran et al., 1976). The first form is an apperceptive disorder, whereas the second represents a higher disorder in phonemic discrimination and may be considered a fragment of Wernicke's aphasia.

Familial recurrent peripheral facial palsy. Observations of the pediatric population.

Idiopathic peripheral facial palsies in the pediatric population have been noted to carry a favorable prognosis. We describe three members of a family, including two children with recurrent facial palsy, and review the relevant literature. As recurrent peripheral facial palsies carry a relatively poor prognosis, the physician should be alerted to this possibility in any child who has an idiopathic peripheral facial palsy and a positive family history.

Pure agraphia and unilateral optic ataxia associated with a left superior parietal lobule lesion.

Impairment in visually guided reaching and pure agraphia are described in a patient with a left superior parietal embolic infarction. Identification of these disorders required specific but simple test procedures. Both disorders may reflect disruption of specific integrative functions of the superior parietal lobule.

Headache in cerebral embolic disease.

A patient is presented who had severe headache and then developed a stuttering course of clinical neurological deficits. Arteriography demonstrated an ipsilateral proximal middle cerebral embolus. With recurrence of symptoms, repeat arteriography showed another, more proximal embolus with areas of distal occlusion. The headache probably occurred when the embolus became lodged in a pain sensitive cerebral vessel at the base of the brain. The subsequent stuttering neurological deficits were due to fragmentation of the embolus as well as recurrence.