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)

The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.
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PMID:Autism in tuberous sclerosis complex. 958 71

All children born in 1989 and 1990 in the district of Krusevac in Central Serbia (population 140,000) were followed to the end of 1995. The total number of children was 3,102. The cumulative incidence of febrile seizures was 25.1/1,000, that of single febrile seizures 3.9/1,000 and that of epilepsy (i.e. recurrent afebrile seizures) 6.5/1,000. The peak age-specific rate of the first febrile and the first afebrile seizure was in the second year of life (11.6/1,000 and 2.9/1,000, respectively). Among 20 cases of epileptic children, the most common type of seizure was the generalized type--14 cases (70%), while 6 children (30%) suffered from partial seizures. Of these epileptic children, there were 7 children (35%) with associated neurological abnormalities and/or mental retardation, including one with tuberous sclerosis. Thirteen of the total number of epilepsy cases were considered as having active epilepsy (i.e. still having had seizures and/or being on antiepileptic therapy). The calculated point prevalence rate was 4.2/1,000 on December 31, 1995.
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PMID:Seizure disorders in preschool children in a Serbian district. 959 87

Three cases of subependymal giant cell astrocytoma (SEGA) in the women aged 23, 26, and 36 years were reported. Two of them had no clinical evidence of tuberous sclerosis complex (TSC) and the one woman presented apparent mental retardation. All patients manifested sudden clinical onset with symptoms of elevated intracranial pressure due to tumor of lateral ventricles and obstructive hydrocephalus. At surgery, the neoplasm was removed totally in one case and resected partially in 2 cases. Histologically, the tumors were composed of large polygonal cells with vesicular nuclei, prominent nucleoli and glassy eosinophilic cytoplasm, intermingled with spindle and small cells. In addition, multinucleated and bizarre giant cells were present, but they were very numerous in one case only. The tumor cells revealed in all cases variegated immunoreactivity for glial fibrillary acidic protein (GFAP), S-100 protein, vimentin (VIM) and neuron-specific enolase (NSE), with stronger expression of VIM than GFAP in 2 cases. Immunostaining of neurofilament proteins and synaptophysin was negative. The results suggest rather astroglial incomplete or aberrant differentiation and maturation than neuronal differentiation of tumor cells. The immunohistochemical variations of SEGA in asymptomatic TSC cases and those associated with tuberous sclerosis are discussed.
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PMID:Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. 959 53

Angiomyolipomas can occur sporadically or in association with tuberous sclerosis complex (TSC). TSC is an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the brain, heart, kidney, and skin. Angiomyolipomas are more common in women than in men, suggesting a possible hormonal influence on tumor growth. In this study, 35 angiomyolipomas from 23 patients were immunostained with antibodies to estrogen receptor (ER) and progesterone receptor (PR). Eleven angiomyolipomas (31%) contained clusters of PR-immunoreactive smooth muscle cells. None contained ER-immunoreactive cells. Of the 21 tumors from patients with TSC, 11 (48%) were PR immunoreactive. All of the PR-immunoreactive angiomyolipomas were from women younger than 50 years of age, and all except one of these women had TSC. This study suggests that hormonal factors play a role in the pathogenesis of TSC-associated angiomyolipomas.
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PMID:Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. 968 88

The authors report four cases of childhood epilepsy symptomatic of tuberous sclerosis. Epilepsy appeared in the forefront of the epileptic scene: in two cases, the features of epilepsy were haut mal and in two cases, WEST'S syndrome. Epileptic seizures began precociously for all children. Mental retardation was identified in three cases with one case of autistic behaviour. Diagnosis was possible given skin lesions, family investigations, and X-ray of the skull. Brain scanners were not carried out on any of the children. Whilst recognizing the scarcity of BOURNEVILLE'S tuberous sclerosis, the authors point out the need for interdisciplinary collaboration in the diagnosis of rare but not exceptional hereditary affections.
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PMID:[Bourneville's tuberous sclerosis and childhood epilepsy Apropos of 4 cases in Togo]. 977 99

A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion. Since this skin sign is considered pathognomonic for tuberous sclerosis complex, the condition in the family was labelled accordingly, in the absence of further clinical features of tuberous sclerosis complex-like mental retardation or epilepsy. The skin changes started at early puberty with small eruptions around the nose and progressed to larger tumours, with considerable variation in severity. Some affected members had required plastic surgical reconstruction following excision. Linkage analysis in this family was performed for the two chromosomal regions involved in tuberous sclerosis complex on chromosomes 9q34 and 16p13, but no positive linkage was found. On critical re-evaluation of the clinical and pathological data and renewed assessment, the working diagnosis was changed to autosomal dominant cylindromatosis. The recently published candidate region for cylindromatosis on chromosome 16q12-13 was subsequently proven to be positively linked with a lod score of 3.02 with marker D16S308. Review of pathological specimens confirmed the diagnosis of cylindromatosis. DNA analysis of tumour tissue showed loss of heterozygosity for the cylindromatosis CYLD1 locus. These results confirm the candidate locus for cylindromatosis on chromosome 16q12-13.
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PMID:Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. 978 9

GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activity of GTPases. We recently reported the identification of a new GDI for the Rho-related GTPases named RhoGDIgamma. This gene is now designated ARHGDIG by HUGO. Here, in a detailed analysis of tissue expression of ARHGDIG, we observe high levels in the entire brain, with regional variations. The mRNA is also present at high levels in kidney and pancreas and at moderate levels in spinal cord, stomach, and pituitary gland. In other tissues examined, the mRNA levels are very low (lung, trachea, small intestine, colon, placenta) or undetectable. RT-PCR analysis of total RNA isolated from exocrine pancreas and islets shows that the gene is expressed in both tissues. We also report the genomic structure of ARHGDIG. The gene spans over 4 kb and is organized into six exons and five introns. The upstream region lacks a canonical TATA box and contains several putative binding sites for ubiquitous and tissue-specific factors active in central nervous system development. Using FISH, we have mapped the gene to chromosome band 16p13.3. This band is rich in deletion mutants of genes involved in several human diseases, notably polycystic kidney disease, alpha-thalassemia, tuberous sclerosis, mental retardation, and cancer. The promoter structure and the chromosomal location of RhoGDIgamma suggest its importance and underscore the need for further investigation into its biology.
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PMID:Human ARHGDIG, a GDP-dissociation inhibitor for Rho proteins: genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3. 978 82

Autism and pervasive developmental disorders (PDD) are common in tuberous sclerosis (TSC). The frequency of autism is about 25%, with 40-45% of TSC cases meeting criteria for autism or PDD. Among autistic populations, the frequency of TSC is 1-4% and perhaps as high as 8-14% among the subgroup of autistic individuals with a seizure disorder. Mental retardation (MR) and seizures, particularly infantile spasms, are significant risk factors in the development of autism/PDD in TSC; however, neither are sufficient or necessary for the development of these behaviors. The mechanism underlying the association of autism and TSC is as yet unclear but clinical features and neuroimaging investigations suggest that an abnormal TSC gene may directly influence the development of autism rather than it being a secondary effect of seizures or MR. The presence of autism/PDD may arise if the TSC gene mutations occur at critical stages of neural development in neural tissue of brain regions critical in the development of autism.
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PMID:Autism and tuberous sclerosis. 981 76

We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage information, and 126 sporadic patients. 17 unique mutations were identified in 21 patients. Mutations were found in 7/13 (54%) TSC1-linked families, 1/22 (5%) small families without linkage, and 13 of 126 (10%) sporadic cases. The mutations were all chain-terminating, with 14 small deletions, 1 small insertion, and 6 nonsense mutations. In families with mutations, all individuals carrying a mutation met formal diagnostic criteria for TSC, apart from a 3-year-old girl who had inherited a deletion mutation, and who had no seizures, normal intelligence, normal abdominal ultrasound, and hypomelanotic macules only on physical exam. We assessed the incidence and severity of mental retardation in the 13 sporadic patients with TSC1 mutations versus the entire sporadic cohort, and found no significant difference. The observations indicate that TSC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15-20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.
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PMID:Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 992 5

Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterised by seizures, mental retardation, cutaneous lesions and visceral harmatoma. We describe a 4 1/2-year old boy in whom in addition to the commonly described features of TSC, adult-type polycystic kidneys, a scantily reported occurrence, was an associated feature.
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PMID:Polycystic kidney disease in tuberous sclerosis complex: case report. 1006


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