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)

We describe three families with X-linked recessive Charcot-Marie-Tooth (CMT) neuropathies. The disease phenotype in family 1 was characterized by infantile onset, weakness of lower legs, areflexia, pes cavus, and mental retardation (2 of 5 patients). The disease phenotype in families 2 and 3 was characterized by late onset, distal weakness, and normal intelligence. Hereditary spastic paraparesis was also present in the CMT patients of family 2. Thirty X-linked DNA markers were used for linkage studies. A maximum lod score of +3.48 was obtained by multipoint linkage analysis for the DXS16 locus mapped at Xp22.2 in family 1. In families 2 and 3, there was suggestion of linkage of Xq26 markers; the peak multipoint lod score for these 2 CMT families was 1.81, at DXS144. These results were suggestive of heterogeneity. The joint analysis including both regions (Xp22.2 and Xq26) provided evidence against homogeneity (chi 2 = 9.12, P less than 0.005).
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PMID:X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. 155 86

We described a case of XYY syndrome associated with motor neuropathy. The case was a 27-year-old male, who had 47-XYY chromosome karyotype. His symptoms were distal dominant muscle weakness and muscle atrophy in his lower extremities without objective sensory disturbance. He had no mental retardation or family history of neurologic diseases. The electrophysiological and pathological examinations revealed that his symptoms were due to peripheral motor neuropathy (neuronal type). His motor neuropathy may be of sporadic type. There may be some relation in the pathogenesis between XYY syndrome and motor neuropathy, although in the literature, XYY syndrome with motor neuropathy had not been reported so far.
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PMID:[XYY syndrome associated with motor neuropathy]. 162 42

The purpose of this review has been to examine the hypothesis that the Attention Deficit Hyperactivity Disorder (ADHD), formerly also referred to as the Hyperactive Syndrome or Minimal Brain Dysfunction (MBD), is a precursor of criminality and abuse of alcohol and illicit drugs. This has been done by reviewing findings from follow-ups. Most reviewed projects suffer from methodological weakness. In most materials, few if any of the cases had ADHD according to present criteria. Some had ADHD and conduct problems. Many probably had exclusively conduct problems, but were too young to fulfill the criteria of Conduct Disorder (CD). Methodological limitations of the examined projects have been pointed out. It has been discussed how weaknesses regarding research design might have influenced the results. As a consequence of methodological shortcomings of most projects, the reviewed studies do not give definite answers. However, they show some rather convincing trends. By early adulthood, ADHD appears to remain present in at least one third of the subjects. Subjects with prior ADHD did not have more mental problems than controls in adolescence and early adulthood, provided they had normal intelligence, and no additional disabilities or mental disorders. Those with mental retardation, cerebral dysfunction or psychosis in addition to ADHD have a poor prognosis. A high percent become psychotic, and some end up in institutions. Although there seems to be an increased rate of delinquency and lawbreaking in prior hyperactives compared to controls, these differences disappear when the results are analyzed. The initially impressive differences between cases and controls are probably consequences of bias. Cases with a childhood history of conduct and educational problems have been compared to controls without a history of such problems. Thus, the reported differences are not related to ADHD. Hyperactives without conduct problems do not have an increased frequency of delinquency. Problems of conduct, CD and Antisocial Personality Disorder, but not psychosis characterize cases with a childhood history of conduct problems (with or without ADHD). In subjects with ADHD as well as conduct problems in childhood, conduct problems and not ADHD predict the prognosis, which is worse than for those with CD without ADHD. ADHD combined with delinquency indicates a high rate of subsequent lawbreaking. Usually, cases have more problems than controls with alcohol and illicit drugs, but this might be the consequence of selection of cases (subjects with school and conduct problems) and controls (subjects without such problems).(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Follow-ups of children with attention deficit hyperactivity disorder (ADHD). Review of literature. 164 37

We describe a young man with a progressive neurological disorder including myoclonus, mental retardation, muscle weakness and a mitochondrial myopathy (myoclonus epilepsy and ragged red fibres--MERRF). Multiple abnormalities of the mitochondrial respiratory chain in skeletal muscle are shown by direct measurement of the flux through the individual complexes, low-temperature redox spectroscopy and decreased immunodetectable subunits of complexes I and IV by immunoblotting. No abnormality of mitochondrial DNA was found. This is the first report of combined defects of complexes I, III and IV as a cause of this clinical syndrome. However, we propose that the occurrence of multiple respiratory chain defects may be more common than previously recognised and that this particular combination of defects, involving complexes I, III and IV, may be the predominant biochemical abnormality in MERRF.
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PMID:Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. 164 12

A woman has appeared normal during her neonatal and childhood period except for a short stature. Her parents were healthy and non-consanguineous. At the age of 8, she noticed difficulty in climbing stairs and had tendency to fall. In her 13th year, she developed marked scoliosis and genu valgum. Physical examination at 14 years of age revealed a gentle and shy child of short stature with brown-black kinky hair. Neurological examinations revealed progressive mental retardation, optic nerve atrophy, moderate and coarse nystagmus on lateral and vertical gaze, atrophic tongue with fasciculations, slow and scanning speech, distal muscular weaknesses with diffuse atrophies in the four extremities and sensory deficiencies in all modalities with a glove-stocking type distribution. At the age of 15, she was unable to walk without a wheelchair. During the course she showed slowly progressive muscular weakness, ataxia and decreasing sensation especially in the lower extremities. She died of infection of the respiratory and urinary tracts at the age of 25. Pathologically the abnormalities in the biopsied and autopsied sural nerve were characterized by an advanced stage of nerve fiber degeneration without giant axons. The phrenic nerve obtained at autopsy at 1 to 10 cm from axon terminal revealed the presence of several large focal axonal swelling of 15-20 microns in diameter. On the other hand, sections of the phrenic nerve at 15 cm from axon terminal displayed a mild to moderate reduction in the number of myelinated fibers without giant axons. The difference of pathological findings among these specimens seems to depend on the time as well as the site of the examination.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Advanced stage of giant axonal neuropathy]. 165 77

To evaluate the correlation of clinical symptoms and deletion of mitochondrial DNA (mtDNA) in CPEO, we examined brain MRI, lower limb SSEP and mtDNA in 19 patients (nine men, ten women) with CPEO averaging 44.9 years of age. Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis pigmentosa and an onset before the age of 20, as well as at least one of the followings: heart conduction block, cerebellar ataxia and elevated CSF protein. One patient was diagnosed as having probable KSS because the symptoms had begun at the age of 33. All patients with typical and probable KSS had one or more of the following common manifestations: mental retardation or dementia, hearing loss, short stature, and endocrinological disorder. All other 15 patients had ocular myopathy with limb muscle weakness. Total DNA was isolated from 19 biopsied muscles, and analyzed by the methods of Southern blot hybridization and PCR. Thirteen patients has heteroplasmy with the deleted and normal mtDNA, and six patients who had ocular myopathy did not have mtDNA deletion. The age of onset in the patients with mtDNA deletion averaged 23.0 years of age, while that without mtDNA deletion averaged 39 years of age. All KSS and two ocular myopathy patients shared the common site in mtDNA deletion, while nine with ocular myopathy showed the different sizes of deletion ranging from 2.3 to 9.5 kb in the different sites. Brain MRI was obtained from 12 of the 19 patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies]. 176 62

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differential diagnosis of these patients are discussed.
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PMID:[Mitochondrial myopathy: report of 12 cases with histochemical study of the skeletal muscle]. 180 26

We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had sensorineural deafness, retinal vessel abnormality, mental retardation, and epilepsy. She had infantile spasms at 6 months of age. Muscle atrophy and weakness of facial muscles were first noticed at 3 years of age. From 10 years of age, she had rapidly progressive generalized muscle weakness especially of facial, neck and truncal muscles with marked lordosis. Although mental retardation is commonly complicated with FSHD, infantile spasms or epilepsy has never been reported. Not only mental retardation but epilepsy may be one of the central nervous system symptoms in a systemic disorder, FSHD.
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PMID:[A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality]. 190 58

Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The sole living child has severe psychomotor retardation. Several female carriers show mild features (clubfeet, contractures, hyperkyphosis, and slight muscle weakness). One manifesting carrier is affected more severely (multiple contractures, mental retardation, and various dysmorphic features). Additional investigations including muscle biopsy revealed none of the usual signs of denervation, and pointed to the presence of a degenerative muscle disorder.
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PMID:A family with severe X-linked arthrogryposis. 191 20

A 3-year-old boy was seen because of delayed developmental milestones, waddling gait, nonprogressive proximal muscle weakness and hyporeflexia. Serum creatine kinase levels were normal and EMG was non-diagnostic. Muscle biopsy revealed complete absence of type 2 A and 2 B fibers in addition to a moderate variation in fiber size. Diagnostic findings for congenital nonprogressive myopathies were not present such as nemaline bodies, cores, targetoid structure, central nuclei or selective type 1 fiber atrophy. This was the first case of a distinct form of non-progressive congenital myopathy, "congenital neuromuscular disease (myopathy) with uniform type 1 fibers", accompanied with mental retardation in Japan.
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PMID:[Congenital neuromuscular disease with uniform type 1 fibers : a case report]. 204 74


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