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)

A 30-year-old man with long-standing localization-related epilepsy and mental retardation had seizures that were partially controlled with valproate (VPA) 500 mg four times daily. Routine examination showed severe thrombocytopenia with mild leukopenia and chronic low-grade hemolytic anemia. Pertinent laboratory results included positive ANA, rheumatoid factor, anti-NIA, circulating immune complexes, and antihistone antibody. The patient was treated with high dosage prednisone with partial improvement, but continued to have exacerbations at lower dosages. Fourteen months later, VPA was discontinued, and rapid improvement ensued. Prednisone was subsequently discontinued, and the patient has now maintained normal platelet counts for 18 months.
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PMID:Systemic lupus erythematosus associated with use of valproate. 811 40

Canavan disease (CD) is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain. The clinical features of CD are hypotonia, megalencephaly, and mental retardation leading to early death. While aspartoacylase (ASPA) activity increases with age in the wild type mouse brain, there is no ASPA activity in the CD mouse brain. So far ASPA deficiency and elevated NAA have been ascribed with the CD. Other factors affecting the brain that result from ASPA deficiency may lead pathophysiology of CD. The NMR spectra and amino acid analysis showed lower levels of glutamate and gamma-aminobutyric acid in the CD mouse brain compared to the wild type. Microarray gene expression on CD mouse brain showed glutamate transporter-EAAT4 and gamma-aminobutyric acid-A receptor, subunit alpha6 (GABRA6) were lower 9.7- and 119.1-fold, respectively. Serine proteinase inhibitor 2 (Spi2) was 29.9-fold higher in the CD mouse brain compared to the wild type. The decrease of GABRA6 and high expression of Spi2 in CD mouse brain were also confirmed by real-time RT-PCR. This first report showing abnormal expression of EAAT4, GABRA6, Spi2 combined with lower levels of glutamate and GABA are likely to be associated with the pathophysiology of CD.
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PMID:Expression of glutamate transporter, GABRA6, serine proteinase inhibitor 2 and low levels of glutamate and GABA in the brain of knock-out mouse for Canavan disease. 1290 86

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by a defect in cholesterol biosynthesis, associated with mental retardation and multisystem structural abnormalities. This study investigated the prevalence of congenital CNS abnormalities by MRI in a large series of patients with SLOS and the correlation of the clinical and biochemical findings with the results of MRI and 1H MRS. Eighteen patients were studied; all underwent MRI of the brain, and 16 had 1H MRS of the cerebral white matter. The ratios choline:NAA, lipid:NAA, and lipid:choline metabolite were found to be correlated with the clinical degree of disease severity, serum total sterol ratios (cholesterol/cholesterol + 7-dehydrocholesterol + 8-dehydrocholesterol) and in two cases with the effect of cholesterol therapy. Abnormal CNS findings were noted in five patients, including callosal abnormalities (n = 4), Dandy-Walker variant (n = 1), and arachnoid cyst (n = 1). Holoprosencephaly was noted in one patient with a prevalence of 6%. Choline:NAA was elevated in seven patients. There was a statistically significant positive correlation between the lipid:choline ratio and the serum cholesterol precursor, 8-dehydrocholesterol. In two patients 1H MRS demonstrated abnormally elevated lipids prior to cholesterol therapy, which improved on therapy. The use of MRI and 1H MRS is an effective way to demonstrate brain structural abnormalities in patients with SLOS and may prove to be an effective method for the assessment of the effects of cholesterol replacement therapy in the brain.
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PMID:MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. 1460 87

Our aim was to evaluate the relationship between the neurological outcome of tuberous sclerosis complex (TSC) and the findings obtained from both cranial magnetic resonance imaging (MRI) and single voxel proton spectroscopy (SVPS). MRIs of 13 children who met the diagnostic criteria for TSC were taken. Eleven of these children also underwent a prospective analysis of SVPS. Fisher's exact test and Mann-Whitney U test were used, where applicable, to detect any signs of the imaging data that would indicate poor outcome, or in other words, poor seizure control and/ or high degree of mental retardation. Poor seizure control was seen in eight of the patients and multiple seizure types in seven. Mental retardation was severe in six patients and mild/moderate in seven. MRI revealed multiple bilateral tubers and subependymal nodules (13/13), confluence of tubers (8/13), subcortical linear heterotopias (7/13), gyral cores (3/13) and cortical atrophy (3/13). SVPS findings of tubers were characterized by decreased NAA/Cr (1.43 +/- 0.33, p<0.001), increased Cho/Cr (0.91 +/- 0.082, p< 0.05) and mI/Cr (0.97 +/- 0.19, p<0.01) ratios when compared with those of the control group. Lactate peak was detected in six patients. Unfavorable outcome in TSC can be predicted with the help of the following: multiple seizure types, a number of confluent appearances of the tubers and cortical atrophy. SVPS could be a useful clue to understand the pathophysiologic function of the tubers, especially in children with refractory epilepsy along with TSC.
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PMID:Neurological aspects of tuberous sclerosis in relation to MRI/MR spectroscopy findings in children with epilepsy. 1760 20