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Retinoic acid, an analogue of vitamin A, is known to be teratogenic in laboratory animals and has recently been implicated in a few clinical case reports. To study the human teratogenicity of this agent, we investigated 154 human pregnancies with fetal exposure to isotretinoin, a retinoid prescribed for severe recalcitrant cystic acne. The outcomes were 95(More)
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based(More)
Two markers of neuronal plasticity were used to compare the response of the human central nervous system to neuronal loss resulting from Alzheimer's disease with the response of rats to a similar neuronal loss induced by lesions. In rats that had received lesions of the entorhinal cortex, axon sprouting of commissural and associational fibers into the(More)
Neuroanatomic characteristics of the brains of individuals with Down's syndrome (DS) are typically characterized at autopsy. Apparent anatomic differences in brain between DS and normal individuals are observable upon gross inspection of MRIs. Area measurements from coronal MRIs are used in this study to determine quantitative structural differences that(More)
Edgar, G. W. F. (1957). In CerebralLipidoses, p. 48, ed. J. N. Cumings. Blackwell, Oxford. -(1961a). In Encephalitides, p. 648, ed. L. van Bogaert, J. Radermecker, J. Hozay, and A. Lowenthal. Elsevier, Amsterdam. (1961b). Neurochemistry Symposium. 7th International Congress of Neurology. Rome. (In the press.) Einarson, L., and Stromgren, E. (1961). Acta(More)
A subset of aged individuals with Down syndrome (DS) exhibits the clinical features of Alzheimer's disease (AD) but our ability to detect dementia in this population is hampered by developmental differences as well as the sensitivity of existing test tools. Despite the apparent clinical heterogeneity in aged individuals with DS, age-associated(More)
This chapter reviews the neurological phenotype of Down syndrome (DS) in early development, childhood, and aging. Neuroanatomic abnormalities in DS are manifested as aberrations in gross brain structure as well as characteristic microdysgenetic changes. As the result of these morphological abnormalities, brain circuitry is impaired. While an intellectual(More)
Improvements in medical interventions for people with Down's syndrome have led to a substantial increase in their longevity. Diagnosis and treatment of neurological complications are important in maintaining optimal cognitive functioning. The cognitive phenotype in Down's syndrome is characterised by impairments in morphosyntax, verbal short-term memory,(More)
There is evidence to suggest that certain shared features exist in the pathogenesis of vascular disease and Alzheimer disease (AD) in the general population. In Down syndrome (DS) all adults over the age of 40 years develop sufficient neuropathology for a diagnosis of AD. However, vascular disease is not as common in DS as it is in the general population,(More)
In the United States, estimates indicate there are between 250,000 and 400,000 individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) pathology starting in their 30s. With the current lifespan being 55 to 60 years, approximately 70% will develop dementia, and if their life expectancy continues to increase, the number of(More)