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)

Neuroblastoma is one of the most frequent solid tumors in childhood, rarely recurrent after five years from diagnosis. Cytomegalovirus (CMV), a major pathogen causing congenital birth defects and severe opportunistic diseases, has been shown to have teratogenic, immunodepressive and oncogenic properties. The case of a girl with stage 4S neuroblastoma diagnosed at three months and relapsed as stage 4 five years later is reported. In both circumstances, active CMV infection was revealed by positive CMV-specific IgM and IgA antibodies, CMV-DNAemia and CMV culture. At three months, the patient presented with subcutaneous nodules, hepatosplenomegaly and increased aminotransferase levels, and the opsolonus-myoclonus syndrome. Mental retardation developed later on. At 5 years, relapsed neuroblastoma was preceded by a mononucleosis-like syndrome concomitant with active CMV infection and decreased levels of immune cells and natural killer activity. Clinical, virologic, and immunologic findings suggest an immune-mediated pathogenic role for CMV in this tumor.
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PMID:Cytomegalovirus-associated stage 4S neuroblastoma relapsed stage 4. 783 43

Over the past few years, molecular neurogenetics has developed into one of the most promising and active research fields. The new discipline applies modern molecular genetic techniques to the investigation of classical neurological disorders. In the following article, a definition of neurogenetic disease is introduced, the molecular basis of four groups of neurogenetic disorders is described and recent diagnostic developments are presented. The first group of diseases is caused by trinucleotide expansions. "Expanding" trinucleotide repeats were not known to occur in any species until about three years ago. Today, disorders such as Huntington's disease, spinocerebellar ataxia type 1, fragile X mental retardation, spinobulbar muscular atrophy and myotonic dystrophy are all known to be caused by the expansion of trinucleotides. The second group is characterized by chromosomal deletions or uniparental disomies. Lissencephaly and the Miller-Dieker syndrome, Prader-Willi and Angelman syndromes and Duchenne and Becker muscular dystrophies belong to this category. The third group includes those neurogenetic disorders that are mainly caused by point mutations such as the X-linked leukodystrophies, including Pelizaeus-Merzbacher disease and adrenoleukodystrophy, Charcot-Marie-Tooth syndrome type 1, familial forms of amyotrophic lateral sclerosis, several types of craniosynostoses and some CNS tumor syndromes. Finally, Alzheimer's and Parkinson's disease are discussed as representatives of group four, i.e. genetically heterogeneous neurological disorders.
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PMID:Molecular basis and diagnosis of neurogenetic disorders. 796 63

Pancreaticoduodenectomy with revascularization of the hepatic artery and portal vein was performed on a 17-year-old girl with giant nonfunctioning islet cell tumor of the pancreas. She had a remote history of neonatal hypoglycemia leading to mental retardation and a right Wilms' tumor resected at 8 months. Serum pancreatic polypeptide levels were elevated. Her postoperative course was complicated by an ischemic perforation of the colon, which did not infect her prosthetic vascular grafts. The relationship between her neonatal hypoglycemia, Wilms' tumor, and subsequent islet cell neoplasm is unclear.
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PMID:Giant nonfunctioning islet cell tumor requiring pancreaticoduodenectomy and complete liver revascularization. 810 91

Tuberous sclerosis (TS) is a multiple-system disease involving the brain, skin, kidneys, heart and other visceral organs. There were 18 children with TS at our clinic, and complete studies of these patients and their families were performed. Male to female ratio was 11:7. Age at diagnosis was from 1 month to 18 years. Seizures (infantile spasm, generalized and partial epilepsy), skin lesions and intracranial calcifications were the most common clinical manifestations. Mental retardation was closely correlated with seizure attacks. Neoplasms of the brain, retina, heart, lung and kidneys were all encountered. Hypopigmented macules, intracardiac tumors and infantile spasms were usually the first signs in younger ages and can give hints of early diagnosis of TS. In total, six patients had positive family histories and one of them had non-penetrating parents. Detailed family studies are mandatory prior to genetic counseling.
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PMID:Tuberous sclerosis in children. 818 84

Alexander's disease is a progressive degenerative neurological disorder developing in early childhood which is characterized by accumulation of Rosenthal fibres throughout the cerebral white matter. These fibres are composed of glial fibrillary acidic protein and ubiquinated alpha beta crystallin. The absence of atypia, increased cellularity, mitotic activity or necrosis in biopsy material allows differentiation from neoplasia glial processes. Clinical features suggestive of the diagnosis include progressive mental retardation with an increase in head circumference.
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PMID:Test and teach. Number seventy-three. Diagnosis: Alexander's disease. 826 44

Six of 39 sporadic Wilms tumors had gross homozygous or hemizygous WT1 and WIT1 deletions. Two Wilms tumor-aniridia-genitourinary abnormalities-mental retardation syndrome patients had total hemizygous WT1 and WIT1 deletions in both constitutional and nonsporadic type tumor cells. Four of the 8 tumors with WT1 and WIT1 deletions showed loss of constitutional heterozygosity (LOH) for markers limited to the 11p13 region. Seven of 19 Wilms tumors with neither WT1 nor WIT1 deletions also had LOH on 11p; 4 in the 11p15-11p13 region, one in the 11p15 and possibly also 11p13 regions, and two solely in the 11p15 region. Thus, 15 of the 41 Wilms tumors (37%) had WT1 and WIT1 deletions or LOH on 11p, and only 2 of the 27 tumors whose nonneoplastic normal tissues were available for study showed LOH limited to the 11p15 region. None of the 7 non-Wilms childhood renal tumors showed WT1 or WIT1 deletions, or LOH on 11p. These data suggest that Japanese Wilms tumors may be characterized by a higher incidence of the gross WT1 deletion and a lower incidence of LOH limited to the 11p15 region than the Caucasian counterparts. These molecular-genetic features may be contributing to the lower incidence of Wilms tumors in Japanese children than in Caucasian ones.
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PMID:Deletion of WT1 and WIT1 genes and loss of heterozygosity on chromosome 11p in Wilms tumors in Japan. 839 32

The APC gene was identified in 1991 at chromosome 5 q 21, which is responsible for the familial adenomatous polyposis (FAP). The gene has been classified as one of the tumor suppressor genes. The APC gene mutations were suggested to initiate sporadic as well as inherited colorectal neoplasia and to be related to mental retardation. The different forms of APC gene expression and their association to carcinogenesis have been carefully studied. However, the function of APC gene in the central nervous system has not been known. In this study, on the basis of the cDNA cloning of APC homologue in the guinea pig by Dr. Fan Meng, we rescued this fragment including the full length encoding region from plasmid pMe 18s and then subcloned it into the polylink site of the plasmid pBluscript KS. Both digoxigenin labeled sense and anti-sense RNA were synthesized by in vitro transcription. RNase protection assay and in situ hybridization enable us to examine the distribution of APC transcripts in guinea pig brain. Strong signals were detected in hippocampus. APC mRNA was mainly localized in the pyramidal neurons of CA 1, CA 3, as well as in the dentate granule cells; the cerebellum granular cells also showed strong staining; in the cerebrum, the parietal and primary olfactory cortex showed stronger signals than the frontal cortex; in olfactory bulb, positive cells with strong signals were observed: the brain stem showed a relatively weaker staining. Very similar expression pattern was also shown in embryonic guinea pig brain; except that the expression of APC gene in frontal cortex and olfactory bulb was stronger than that in adult animals. The results suggest that the APC transcripts in brain may play an important role during the early development of the central nervous system. Further study may enable us to take a deeper insight into the mechanism underlying inherited mental deficiency.
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PMID:[The distribution of tumor suppressor gene APC mRNA in guinea pig brain]. 857 9

The study of Wilms tumor-predisposing congenital syndromes has led to the identification of one tumor-suppressor gene, WT1, and to the localization of WT2. Molecular genetic analyses of these and sporadic Wilms tumors have clarified the role of WT1 in Wilms tumor with aniridia, genitourinary malformations, and mental retardation (WAGR)-syndrome patients, but much remains unclear in the case of WT2 and the Beckwith-Wiedemann syndrome. Loci on chromosomes 16q and 1p have now been implicated in the progression of Wilms tumor and may serve as molecular prognostic markers. It is now clear that Wilms tumors are genetically heterogeneous and may be multigenic in origin. Molecular analyses can now be used for genetic counseling in some children and may become useful in individualizing therapy.
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PMID:Molecular genetics of Wilms tumor. 859 61

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous lesions. Although hamartomas can occur in almost any organ, they are most common in the brain, kidney, heart, and skin. Allelic loss or loss of heterozygosity (LOH) in TSC lesions has previously been reported on chromosomes 16p13 and 9q34, the locations of the TSC2 and TSC1 genes, respectively, suggesting that the TSC genes act as tumor-suppressor genes. In our study, 87 lesions from 47 TSC patients were analyzed for LOH in the TSC1 and TSC2 chromosomal regions. Three findings resulted from this analysis. First, we confirmed that the TSC1 critical region is distal to D9S149. Second, we found LOH more frequently on chromosome 16p13 than on 9q34. Of the 28 patients with angiomyolipomas or rhabdomyomas, 16p13 LOH was detected in lesions from 12 (57%) of 21 informative patients, while 9q34 LOH was detected in lesions from only 1 patient (4%). This could indicate that TSC2 tumors are more likely than TSC1 tumors to require surgical resection or that TSC2 is more common than TSC1 in our patient population. It is also possible that small regions of 9q34 LOH were missed. Lastly, LOH was found in 56% of renal angiomyolipomas and cardiac rhabdomyormas but in only 4% of TSC brain lesions. This suggests that brain lesions can result from different pathogenic mechanisms than kidney and heart lesions.
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PMID:Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. 875 27

The prevalence of all neurological disorders in a Japanese town was calculated, with a result of 91.1 per 1,000 population. The prevalence of cerebrovascular disease was 28.8; myelopathy and/or radiculopathy caused by deformity of the spine or disc herniation, 23.9; neuralgia, 11.5; dementia, 10.4; peripheral nerve disturbance, 5.5; epilepsy, 4.4; Parkinson's disease, 2.0; mental retardation, 2.9; brain/spinal tumor, 1.4; headache, 10.8, and vertigo/dizziness, 4.4. The prevalence of headache and vertigo/dizziness was also calculated from the results of the questionnaires sent to inhabitants: headache, 79.6, and vertigo/dizziness, 60.8. Neurological disorders are common in Japan and likely to continue to increase.
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PMID:Prevalence of neurological disorders in a Japanese town. 881 3


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