Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a family in which an association between spastic paraplegia and epilepsy has been observed. This disorder is an autosomal dominant trait with incomplete penetrance and variable expressivity. The onset was limited to the first four decades of life; the symptoms were typically those of progressive weakness and spasticity of lower limbs. Epilepsy was present in members of three of the four generations on whom we have information. The concomitance of spastic paraplegia and epilepsy in several members of the same family is unlikely to be fortuitous and probably represents the pleiotropic effect of a single mutant gene.
 ...
PMID:Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder. 845 49

Two sisters were presented, 16 years old and 12 years old, who showed similar clinical courses. They had had mental retardation since early childhood, and then ataxia began. They suffered from astatic and tonic seizures from early school age, which gradually evolved to intractable epilepsies. Spasticity progressed, and they deteriorated both physically and mentally. They revealed photo-sensitivity; convulsions were induced by the flickering of light. They were attacked by myoclonic seizures as well as choreoathetosis, and became bedridden by the latter part of the elementary school age. There were no fruitful results of any kind from the laboratory examinations for metabolic disorders. EEG showed that the epileptic seizure discharges were induced by photic stimulation; there were frequent 3-4 Hz diffuse spike-and-wave short bursts during waking and sleep periods. MRI findings of the elder sister at the age of 16 revealed remarkable diffuse brain atrophy. Gene analysis showed abnormally enlarged DNA fragments localized on the short arm of chromosome 12. This meant expanded CAG trinucleotide repeats. The younger sister died at the age of 12 years. Autopsy findings revealed degeneration of both dentatorubral and pallidoluysian pathways. There were especially remarkable gliosis and neuronal cell loss in the outer segment of globus pallidus, and moderate neuronal cell loss and typical grumose degeneration in the dentate nucleus. The diagnosis of juvenile-type hereditary dentatorubral-pallidoluysian atrophy was compatible with the pathologic findings. This diagnosis will be made possible before death through the understanding of the clinical symptoms and molecular genetics.
 ...
PMID:[Sisters with early onset hereditary dentatorubral-pallidoluysian atrophy of childhood--DNA analysis and clinicopathological findings]. 853 13

We present the two siblings with X-linked hydrocephalus (XLH) and discuss the clinical features and genetical analysis of them. Case 1. The proband, a male, was delivered by the emergency cesarean section because of enlarged head circumference (44cm). His head circumference at 24 years old was 92cm. Neurological examination revealed adducted thumbs, horizontal nystagmus, hyperreflexia and spasticity of legs. He had tonic convulsions. MRI revealed a very thin layer of cerebral cortex. Molecular analysis revealed a deletion of 5 bases in exon 8 of the cell adhesion molecule L1 (L1CAM) gene located at chromosome Xq28. Case 2. The younger maternal half brother of case 1 was also born by the cesarean section, with 48cm in head circumference. A ventriculoatrial shunt was placed at the first month old. Epileptic seizures were seen. At the age of 21 years he had a head circumference of 59cm. A physical examination showed bilateral adducted thumbs, upward deviation of eyes, hyperreflexia and spasticity of legs. CT showed marked generalized ventricular enlargement including the fourth ventricle. Molecular analysis confirmed the same mutations as that of case 1. A maternal uncle had a previous diagnosis of hydrocephalus, and a sister is identified as a heterozygous carrier from molecular genetical analysis. Our results indicate that HLX is caused by the mutations in the gene for neural L1CAM in our family.
 ...
PMID:[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1]. 874 50

Movement disorders are a well-recognized feature of some patients with cerebral palsy and often require treatment. However, treatments have been symptomatic and empiric, and there have been few pharmacologic studies. The major movement disorders in cerebral palsy are dystonia and the hyperkinesias choreoathetosis and myoclonus. They may occur in combination, often accompanied by spasticity and sometimes by epilepsy. Some drugs are useful treatments for all of these problems, but others may improve one while worsening another. Pitfalls in management include not diagnosing metabolic/degenerative disorders, which may mimic cerebral palsy, or not recognizing reversible complications of cerebral palsy, which may exacerbate symptoms. This review attempts to summarize empiric drug use and recommendations for therapy, drug studies in extrapyramidal cerebral palsy, and prospects for new drugs or models for the problem. Many new pharmacologic agents are available for study in cerebral palsy. Better methods of detecting basal ganglia injury after perinatal injury in asymptomatic infants may allow early intervention in the biologic process of recovery and adaptation.
 ...
PMID:Oral pharmacotherapy for the movement disorders of cerebral palsy. 895 57

The development of neuroprotective agents for the prevention of neuronal loss in acute conditions such as stroke and epilepsy or chronic neurodegenerative disorders including Parkinson's disease, Alzheimer's disease, Huntington's chorea, and motor neuron disease is currently focusing on drugs that inhibit excitatory amino acid neurotransmission or exhibit antioxidant properties. Unfortunately, potent antagonists at the N-methyl-D-aspartate (NMDA) type glutamate receptor, which is thought to mediate excitotoxic neuronal injury, e.g., MK-801 or phencyclidine (PCP), share a high probability of inducing psychotomimetic side effects. Further, these drugs have been associated with acute neurotoxicity in vitro and in vivo, precluding their clinical use. In contrast, low affinity NMDA receptor antagonists like amantadine and its dimethyl derivative, memantine, have been administered clinically for the management of Parkinson's disease, dementia, neuroleptic drug-induced side effects, and spasticity. These agents have only rarely induced significant psychotomimetic side effects. Recent pharmacologic advances have helped to elucidate how high drug affinity for the PCP binding site of the NMDA receptor may enhance psychotogenicity. Low affinity and associated fast voltage-dependent channel unblocking kinetics are likely to be responsible for the better tolerance of amantadine and memantine compared with MK-801 and PCP. Further factors apparently modulating psychotogenicity of glutamate receptor antagonists include differential actions on neuronal populations in various brain regions and interactions with neurotransmitter receptors other than the NMDA type glutamate receptor.
 ...
PMID:Psychotogenicity and N-methyl-D-aspartate receptor antagonism: implications for neuroprotective pharmacotherapy. 901 83

Trichothiodystrophy (TTD) is a rare autosomal recessively inherited disorder which is characterized by sparse and brittle hair with low cystine content. It is often associated with physical and mental retardation. We report 2 cases of TTD in 2 sibs who were born to related parents. The children showed clinical features typical of TTD and in addition other symptoms such as epilepsy, ataxia, spasticity, strabismus, atopic dermatitis, dysarthria and hyperextensible fingerjoints. The sulfur content of hair was reduced to about 50% of normal values and scanning electron microscopy of hair showed trichorrhexis nodosa, trichoschisis, missing cuticle scales with weathering of hair shafts. Under polarizing microscopy an alternating dark and bright banding was found. The present cases show that the correct diagnosis of TTD in practice can be impeded for many years because of the heterogeneous clinical appearance and that the determination of the sulfur content in hair is a simple but indispensable method.
 ...
PMID:Diagnosis of trichothiodystrophy in 2 siblings. 903 99

Severe spinal spasticity has been shown to be a good indication for continuous intrathecal baclofen infusion (CIBI), but there is only limited experience with this treatment in patients with supraspinal spasticity. Eighteen patients with severe spasticity from traumatic or hypoxic brain injury were treated with CIBI. In all patients spasticity could be reduced significantly. The mean Ashworth score was reduced from 4.5 to 2.33 and the mean Spasm frequency score from 2.16 to 0.94. This reduction of spasticity led to a marked pain reduction. Nursing, perineal care and mobilization became much easier. The complication rate was low. In this series we saw one infection in the pump pocket, one epileptic seizure after a bolus application of baclofen and one spinal catheter displacement. The results are similar to those reported from series of patients with spinal spasticity and correspond to the limited experience we have so far with supraspinal spasticity patients. To prevent limb contractures CIBI should be performed as soon as the patient is in a stable clinical condition after brain injury. Further prospective clinical trials will be necessary to obtain more experience with patients suffering from supraspinal spasticity.
 ...
PMID:Continuous intrathecal baclofen infusion in severe spasticity after traumatic or hypoxic brain injury. 905 Sep 56

Among the variable manifesting conditions of neuronal migration disorders, mental retardation, motor disturbance and epilepsy are the main features of developmental disabilities. We analyzed the relationship between clinical symptoms and magnetic resonance (MR) images, including surface anatomy scan (SAS). Thirty nine patients (23 males, 16 females; mean age 6.1 years) with neuronal migration disorders were studied. The diagnoses were cerebral palsy in 23 cases, mental retardation in 4. West syndrome in 4, Fukuyama type congenital muscular dystrophy (FCMD) in 6. Walker-Warburg syndrome in 1 and Dubowitz syndrome in 1. Cortical dysplasias were classified into the following 7 groups, mainly based on the SAS findings: complete agyria (AG 1), mixture of agyria and pachygyria (AG 2), bilateral complete pachygyria (BP 1), diffuse pachygyria with marked widening of the bilateral superior frontal gyrus (BP 2), unilateral pachygyria with hemispheric atrophy or hemimegalencephaly UP), focal cortical dysplasia (FP) and other findings such as solitary schizencephaly (Others). Most cases of AG 1 and AG 2 showed spastic quadriplegia (6/7) and symptomatic generalized epilepsy (5/7), whereas cases of BP1 showed spasticity only in 1/8 and epilepsy in 7/8. Hemiplegia was observed in 6/7 of UP, 2/8 of FP and 2/4 of Others. Partial epilepsy was observed in 2/7 of UP and 1/8 of FP. Intellectual level was variable in BP 1, UP, FP and Others, but all cases showed severe mental retardation in AG 1, AG 2 and BP 2. BP 2 was observed in all cases of typical FCMD (5/5). The birth weight was less than 2,500 g in 6/7 of UP. The structural findings well correlated with clinical symptoms and epileptic seizure types. The surface anatomy scan was a very useful technique for detecting cortical dysplasias.
 ...
PMID:[The relationship between MR images and clinical findings in neuronal migration disorders]. 924 87

Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.
 ...
PMID:Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. 950 85

Information on the long-term development of larger series of children with non-progressive congenital ataxia (NPCA) is scarce. We have updated a personal cohort of subjects previously diagnosed as having NPCA. Children with brain malformations, acquired neurological illness, or defined syndromes were excluded. From 58 subjects, 34 were available for review (including three pairs of siblings). All our subjects had delayed motor and speech development. Truncal ataxia persisted but became less significant. Two subjects developed spasticity and three a focal dystonia. Epilepsy was a feature in 10 of the subjects. Cognitive impairment was present in 22 of 34 subjects. MRI was normal in 15 of 27. There were no obvious correlations between degree of motor delay, severity of ataxia, cognitive impairment, and neuroimaging. Although genetically and clinically not a homogeneous entity, NPCA is a helpful diagnostic label. Major problems arise in the majority of subjects related to cognitive impairment and less to neurological symptoms. Early individual prognosis is not possible from early developmental milestones, neurological signs, or neuroimaging.
 ...
PMID:Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. 956 49


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>