Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Since mongoloids have been reported to differ from other patients with mental retardation by being virtually free of atheromatosis, we analysed plasma lipids and lipoproteins in twenty mongoloid and in twenty age-matched non-mongoloid mentally retarded patients living in the same institution. Plasma total cholesterol in the mongoloids did not differ significantly from that of the control group, but it was low in both groups in comparison with the Finnish population in general. Plasma total triglyceride concentration was higher (P less than 0.01) in the mongoloids than in the controls. This was reflected in higher VLDL-triglyceride and-cholesterol concentrations in the mongoloids. Plasma apolipoprotein B levels were higher (P less than 0.05) and the ratio of apolipoprotein A-1 to apolipoprotein B was lower (less than 0.05) in the mongoloids. The plasma lipid concentrations were in accordance with the significantly higher relative body weights in the mongoloid group. Blood pressure was slightly but significantly lower and cigarette smoking was less common in patients with Down's syndrome. Our results did not explain the reported lower frequency of atheromatosis in Down's syndrome.
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PMID:Plasma lipids and lipoproteins in Down's syndrome. 16 Jun 10

A six-year-old Japanese boy had ataxia, mental retardation, peripheral neuropathy, proximal myopathy, hearing loss, retinitis pigmentosa and deficiencies in apolipoprotein AI, B, CII and CIII. His clinical features except for hearing loss resembled those of abetalipoproteinaemia or symptomatic hypobetalipoproteinaemia, but his apolipoprotein abnormalities were distinct from these disorders. He had apolipoprotein B-100 with a normal molecular weight. Although most of his neurological manifestations were compatible with those of vitamin E deficiency, their early onset and the presence of hearing loss was unusual for that condition. There has been slight deterioration of ataxia during two years follow-up despite high-dose vitamin E supplementation. Other abnormalities in lipid metabolism might be associated with the neurological damage in this case.
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PMID:A variant form of hypobetalipoproteinaemia associated with ataxia, hearing loss and retinitis pigmentosa. 795 7

Several lines of evidence suggest that loss of estrogen after menopause may play a role in the cognitive declines associated with Alzheimer's disease (AD). Women with Down syndrome (DS) experience early onset of both menopause and AD. This timing provides a model to examine the influence of endogenous estrogen deficiency on risk of AD. We hypothesized that low serum levels of bioavailable estradiol (E2) would be associated with increased risk of AD. One hundred and nineteen postmenopausal women with DS, 42-59 years of age, were ascertained through the New York State developmental disability service system and followed at 18-month intervals. Information from cognitive assessments, caregiver interviews, medical record review and neurological examination was used to establish the diagnosis of dementia. Women with DS who developed AD had lower levels of bioavailable E2, lower levels of total estradiol, higher levels of sex-hormone binding globulin, and lower levels of dehydroepiandrosterone sulfate at baseline than women who remained dementia free over the course of follow-up. Women who had low levels of bioavailable E2 at baseline were four times as likely to develop AD (HR=4.1, 95% CI: 1.2-13.9) and developed AD, on average, 3 years earlier, than those with high levels of bioavailable E2, after adjustment for age, level of mental retardation, ethnicity, body mass index, history of hypothyroidism or depression and the presence of the apolipoprotein varepsilon4 allele. Our findings support the hypothesis that reductions in estrogen following menopause can contribute to the cascade of pathological processes leading to AD.
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PMID:Bioavailable estradiol and age at onset of Alzheimer's disease in postmenopausal women with Down syndrome. 1692 67