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)

Within 3 years 48 caretakers and parents of children with fetal alcohol syndrome were asked about the childrens experience and contact with alcohol. The children were mainly raised in foster and adoptive families (40/48 cases), where usually moderate or restricted consumption of alcohol was common. The children were between 4-18 years (means = 7; 5) of age. In 5 children alcohol consumption was observed once or several times. Some children showed signs of increased desire for drinking alcohol. A substance related addiction was never observed until now. Nevertheless the risk of addiction development has to be considered as dangerous in any case of fetal alcohol syndrome. All conditions and risk factors for addiction development are present: a) Hereditary factors in the family of origin. b) Early use and adaption in the prenatal period by maternal drinking. c) The social surroundings and family. d) The particular structure of personality in these children, characterised by uncritical behavior, mental retardation, emotional instability and easy seduction. The risk of addiction development can be estimated to 30%. In a society of lacking alcohol prohibition it will be impossible to keep alcohol away from the children. As in dry alcoholics the children have to learn "to live in association with alcohol without drinking it". Besides it is important for the parents, that they learn to help their child to cope with the danger of alcohol. This ist possible by means of information, strengthening of a positive self-image and faith in the child's capacity for insight.
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PMID:[Are children with alcohol embryopathy latent alcoholics? A study of the risk for developing dependence]. 237 81

Seventy one patients with cavum septi pellucidi (CSP) were found among 2722 patients who had received computerized tomographic scanning. A clinical evaluation of these patients was made to examine incidence, clinical symptoms and neurological signs of CSP. The results obtained were as follows: 1) Incidence of CSP was 2.6% of the patients who visited outpatient clinic of a mental hospital. Sex ratio was M:F 1.9:1.0. 2) Age of onset of chief complaints mainly ranged from 10 to 30 years in male, and 10 to 60 years in female. 3) Complications of epileptic attacks and mental retardation were 22.5% and 9.9% of the patients with CSP, respectively. Frequency of these complications was significantly higher, as compared with the patients without CSP. 4) Chief complaints of the patients with CSP were; headache (43.1%), nausea and/or vomiting (23.8%), epileptic attacks (22.5%), dizziness (19.7%) and emotional instability (19.7%). 5) No neurological signs specific to CSP was found in this study. 6) EEG abnormality was found in 22 of 71 patients with CSP.
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PMID:[A study of incidence and symptoms in 71 patients with cavum septi pellucidi]. 662 80

We present a family with congenital cataract with, in some cases, mental retardation and emotional instability, but intellectual deterioration in all affected members. The latter was accompanied by psychosis in some. The inheritance is most likely autosomal dominant, affecting two generations and consisting of a congenitally blind parent and 6 of 11 of her offspring. In addition to these features, some affected individuals had dysphagia and movement disorder, especially choreiform movements. They all showed small body mass, due possibly to poor nutrition from dysphagia. The pathological findings were unique, demonstrating selective atrophy of the granule cell layer of the dentate gyrus. There was selective expression in paraffin-embedded sections of alpha B-crystallin (CRYA2) in oligodendroglia in all areas of the nervous system examined. alpha B-Crystallin is a major optic lens protein but also a heat shock protein and molecular chaperone found in brain and a number of other tissues. Because of the association of congenital cataract and the accumulation in oligodendroglia of alpha B-crystallin, the gene for this protein was sequenced for possible mutation. No mutation was found indicating other genetic locus. This family appears to have a newly recognized genetic disorder.
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PMID:A familial syndrome of congenital cataract, mental impairment, and dentate gyrus atrophy. 912 9

We report on a 15-year-old compound heterozygous young woman with fragile X syndrome who has a full mutation of 363 repeats on one X chromosome and a premutation of 103 repeats on the other X chromosome. As predicted, subsequent testing demonstrated that her father carries a premutation (98 repeats) as does her mother (146 repeats). There is only one previous report of a compound heterozygous female with fragile X syndrome. By quantitation of Southern blot signals, the activation ratio for the premutation (the proportion of the premutation on the active X chromosome) was determined to be 0.78. Immunocytochemistry of blood smears showed fragile X mental retardation-1 protein (FMRP) expression in 63.5% of lymphocytes. Cognitively, this woman is functioning in the mid-range of involvement for fragile X females. She attends regular classes and receives supplemental assistance for her learning disabilities. She experiences behavior characteristics typical of females with fragile X syndrome including severe shyness, anxiety, panic episodes, mood swings, and attention deficits. She has responded very well to appropriate treatment including fluoxetine for anxiety, methylphenidate for attentional problems, and educational therapy.
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PMID:Compound heterozygous female with fragile X syndrome. 1020 69

Chronic progressive external ophthalmoplegia (CPEO) is one of the most common mitochondrial disorders. It is characterized by bilateral, slowly progressing loss of extraocular muscle mobility, orbicularis oculi weakness, ptosis, and other neuromuscular symptoms, which are caused by the accumulation of multiple mitochondrial DNA (mtDNA) deletions. Many mutations in different nuclear genes, such as POLG1, POLG2, ANT1, and others, have been described as causing autosomal-inherited CPEO with multiple mtDNA deletions. Most causative genes are involved in mtDNA replication impairment. Here, we report a family with CPEO-like symptoms characterized by multiple muscle mtDNA deletions, ptosis, diabetes, hearing loss, mental retardation, and emotional instability. We performed genetic analyses to identify nuclear gene mutations in the family. DNA from the proband was analyzed by whole-exome sequencing. In addition to possible pathogenic mutations, rare variants were prioritized for gene-functional phenotype interpretation. We found possible pathogenetic mutations in the PRIMPOL, BRCA1, CPT2, and GJB2 genes, and functional polymorphisms in the CARD8, and MEFV genes. Multiple functional polymorphisms and possible pathogenic mutations may contribute to mitochondrial-disease-like phenotypes in a composite manner.
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PMID:A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. 3134 95