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

An initial report on the therapeutic application of delta 9-THC (THC) (Dronabinol, Marinol) in 8 children resp. adolescents suffering from the following conditions, is given: neurodegenerative disease, mitochondriopathy, posthypoxic state, epilepsy, posttraumatic reaction. THC effected reduced spasticity, improved dystonia, increased initiative (with low dose), increased interest in the surroundings, and anticonvulsive action. The doses ranged from 0.04 to 0.12 mg/kg body weight a day. The medication was given as an oily solution orally in 7 patients, via percutaneous gastroenterostomy tube in one patient. At higher doses disinhibition and increased restlessness were observed. In several cases treatment was discontinued and in none of them discontinuing resulted in any problems. The possibility that THC-induced effects on ion channels and transmitters may explain its therapeutic activity seen in epileptic patients is discussed.
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PMID:On the application of cannabis in paediatrics and epileptology. 1515 80

The aim of this study was to examine the prevalence of secondary impairments in young adults with spina bifida and to relate the prevalence to the type of spina bifida and the level of lesion. This cross-sectional study is part of the ASPINE (Adolescents with Spina Bifida in the Netherlands) study. Data were collected on medical history, hydrocephalus (shunt: yes/no), neurological level of lesion (International Standards for Neurological and Functional Classification of Spinal Cord Injury), visual acuity (Landolt rings), spasticity (Modified Ashworth Scale), contractures (range of motion), scoliosis (deviation from perpendicular), ambulation (Hoffer criteria), pressure sores and blood pressure (physical examination), epilepsy, pain, incontinence and sexuality (questionnaire), and cognitive functioning (Raven Standard Progressive Matrices). In total, 179 patients with spina bifida participated (41% male, age range 16 to 25 years, mean 20 years 9 months, SD 2 years 11 months). These were 37 patients with spina bifida occulta, 119 patients with spina bifida aperta and hydrocephalus (AHC+) and 23 patients with spina bifida aperta without hydrocephalus (AHC-). Of our patient group, 73 had a high-level lesion (L2 and above), 68 a mid-level lesion (L3 to L5), and 38 a low-level lesion (S1 and below). Both subdivisions were strongly related with patients with higher lesions more often having hydrocephalus. Most secondary impairments were found for patients with AHC+, and patients with AHC- were mostly comparable to patients with spina bifida occulta. According to level of lesion, most medical problems were found in the high-level lesion group. However, all subgroups suffered from health problems.
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PMID:Secondary impairments in young adults with spina bifida. 1517 35

Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures. Here, we show that the murine ortholog Arx has a highly dynamic expression pattern during both early shaping of the forebrain vesicle and later major events of neural migrations and cell-type specification. Early on, the Arx gene is specifically activated in anterior forebrain anlage. Afterward, Arx expression is confined to the telencephalic vesicles and is enhanced during differentiation of the subpallial structures of the ganglionic eminences, overlapping with Dlx2, Dlx5, and Gad1 transcriptional domains. Tangentially migrating neurons reaching the cortical plate are also Arx-positive at all embryonic stages analyzed. RNA-protein colabeling staining shows that Arx expression is maintained in the mature cortical interneurons, suggesting its involvement in the different functions of the gamma-aminobutyric acid (GABA)ergic neurons settled into the adult cerebral cortex. Finally, Arx expression is detected in the anterior subventricular layer of the adult brain, where neural stem cells have been shown to be located. Of interest, Arx expression is highly up-regulated during in vitro differentiation of pure neural stem cell cultures retrieved from adult brain. All together, these findings suggest Arx as a gene involved in the commitment of proliferating neuroblasts into a GABAergic neuronal fate. In conclusion, our mouse Arx expression data provide important further insights into the puzzling complexity of the human ARX mutation pleiotropy.
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PMID:Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. 1537 19

The clinical effectiveness of gabapentin for the treatment of epilepsy, spasticity, and neuropathic pain has been established. The mechanisms responsible for those actions, however, are still not clearly understood. We have recently demonstrated that gabapentin reduces the spinal reflex in rats via mechanisms that do not involve gamma-aminobutyric acid (GABA)A receptors. In the study, we attempted to explore the involvement of GABAB receptors in gabapentin-induced inhibition of the spinal reflexes in spinalized rats. Stimulation of the dorsal root at L5 elicited the segmental mono-(MSR) and polysynaptic reflex (PSR) in the ipsilateral ventral root. The microinjection of gabapentin (1.5 and 5 nmol) into the ventral horn reduced both MSR and PSR, whereas the injection into the dorsal horn only inhibited the PSR, indicating that systemic gabapentin inhibits the MSR at the ventral horn and it inhibits the PSR at both the ventral and dorsal horns. The GABAB-receptor antagonist CGP35348 (0.5 nmol) injected into the ventral horn antagonized the inhibition of the spinal reflexes by the GABAB-receptor agonist baclofen (i.v.) but not by gabapentin (i.v.). Thus, GABAB receptors do not appear to contribute to the gabapentin-induced inhibition of the spinal reflex.
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PMID:GABAB receptors do not mediate the inhibitory actions of gabapentin on the spinal reflex in rats. 1559 6

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder with a chronic progressive course. The gene, MLC1, has been localized on chromosome 22qtell and 26 different mutations have been described. We report two siblings of non-consanguineous parents who presented with characteristic features of MLC. They showed macrocephaly from the first months of life. After a short time, motor clumsiness, ataxia, seizures and psychomotor retardation were observed. During childhood, both patients had a coma that lasted several days following a minor head trauma. The eldest sister experienced a permanent deterioration of the clinical picture after the coma. Epilepsy and electroencephalographic alterations were chronic, tending to improve during adulthood. Cerebral biopsy showed normal or minor changes in the cortical grey matter, and in the white matter gliosis, increased extracellular spaces and decreased numbers of fibres with thin myelin sheets. We have followed the patients during 24 years, from the ages of 4 and 8 years to the their present ages of 28 and 32 years. Clinical and neuro-imaging follow-up showed a chronic course with more prominent progression of the white matter abnormalities than of the neurological features. A homozygous mutation of the MLC1 gene was found in both siblings. The eldest patient, 32 years-old, needs a wheel-chair but has a good contact with the family and surrounding people. The youngest, 28-years-old, shows mild ataxia, spasticity and motor clumsiness, but she is able to participate in activities of daily life.
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PMID:Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings. 1570 20

The impact of epilepsy surgery on motor performance, activities of daily life (ADL) and caregiver assistance was assessed in 37 children (age range 0.1-15.4 years) with pharmacologically untreatable epilepsy, 17 of whom were also diagnosed as having spasticity of cerebral origin. All patients underwent epilepsy surgery between 1996 and 2001 at the Wilhelmina University Children's Hospital and were assessed using a standard protocol at fixed intervals: before surgery and 6 months, 1 year and 2 years after surgery. The type of surgery was hemispherectomy (n = 14) and temporal (n = 14), frontal (n = 4), parietal (n = 2) and central (n = 2) resection. One child underwent callosotomy. Engel's classification was used to determine seizure outcome. Impairments were measured in terms of muscle strength, range of motion and muscle tone. Motor performance of infants and children without spasticity was measured using the Movement Assessment Battery for Children (M-ABC). The Gross Motor Function Measure (GMFM-88) was used in children with spasticity, the severity of motor disability in this group being determined by means of the Gross Motor Function Classification System (GMFCS). Daily activities and caregiver's assistance were measured in all children using the Pediatric Evaluation of Disability Inventory (PEDI). Twenty-four months after surgery 74% of the children could be classified as Engel class 1, indicating a significant seizure reduction. Impairments revealed some decrease in muscle strength and range of motion in the group with spasticity. Scores improved statistically significantly at group level on M-ABC and GMFM (P < 0.05). Improvement in activities of daily life and caregiver's assistance could not be measured in children without spasticity because of the ceiling effect of the PEDI, but children with spasticity improved significantly with respect to these parameters (PEDI) (P < 0.05). Hence, epilepsy surgery does not harm motor performance in children with or without spasticity.
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PMID:Epilepsy surgery does not harm motor performance of children and adolescents. 1582 56

The objective of this study was to analyze the relationship between epilepsy and intrathecal baclofen by investigating a consecutive sample of 150 children with cerebral palsy or spasticity of cerebral origin who underwent intrathecal baclofen. The medical charts of the 150 children were retrospectively reviewed. A series of 100 children with cerebral palsy, operated on other procedures, was reviewed as a control group. Forty percent of the 150 children had epilepsy before intrathecal baclofen pump implantation; 13.3% had a decrease in seizure frequency after intrathecal baclofen, while two children worsened and one child had seizures ex novo. We conclude that in children with spasticity of cerebral origin, intrathecal baclofen does not seem to aggravate or induce seizure activity.
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PMID:Epilepsy and intrathecal baclofen therapy in children with cerebral palsy. 1608 55

Though basal ganglia calcification (BGC) has been recognized as a feature of mitochondriopathy, little is known about its frequency in a larger cohort. The aim of this work was to assess the frequency of BGC, type and frequency of clinical and additional imaging central-nervous-system (CNS) abnormalities and of non-CNS abnormalities in mitochondriopathy patients with BGC. Retrospectively reviewed were the records of all mitochondriopathy patients in whom BGC was found on cerebral CT during 10 years. Among those who underwent cerebral CT, thirty-six, 24 women, 12 men, aged 33-93 years, showed BGC. The most frequent clinical CNS manifestations in these patients were epilepsy (n = 9), Parkinson syndrome (n = 9), dementia (n = 7), dysarthria (n = 5), spasticity (n = 4), tremor (n = 4), or stroke (n = 4). Additional cerebral CT-findings were atrophy (n = 10), lacunas (n = 6), leucaraiosis (n = 6), focal gliosis (n = 4), or stroke (n = 1). MR imaging, carried out in 12 patients, confirmed BGC in one. The 36 patients presented with involvement of the CNS (n = 32), endocrine system (n = 29), peripheral nervous system (n = 28), heart (n = 23), inner ear (n = 16), eyes (n = 15), guts (n = 11), blood (n = 9), kidney (n = 2), or dermis (n = 2). BGC occurs in one sixth of non-selected patients with mitochondriopathy and is associated with clinical and imaging CNS abnormalities and multisystem disease in the majority of them.
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PMID:Basal Ganglia calcification in mitochondrial disorders. 1616 99

This study investigated the clinical manifestations and outcomes of central nervous system (CNS) infection by enteroviruses. Cases with CNS involvement among all enterovirus-culture-positive cases from January 1995 to June 2003 were retrospectively reviewed. Among 1028 enterovirus-culture-positive cases, there were 333 cases involving the CNS. Of these, the ratio of male to female subjects was 1.78, and the mean (+/- standard deviation) age was 6.83 +/- 5.9 years; 21 were premature neonates, and 10 failed to thrive. Disease entities included 282 cases of aseptic meningitis (84.7%), 44 cases of encephalitis (13.2%), and 7 cases of encephalomyelitis/polio-like syndrome (2.1%). Of these cases, 97.9% (326/333) had fever with peak body temperature at 38.9 degrees C, 85% had headache and vomiting, 70% had meningeal signs, 64% had neck stiffness, 16.6% (55/333) had change of consciousness, 5.4% (18/333) had seizures and 5.2% (17/333) had myoclonic jerks. Mannitol was administered in 77.2% of patients (257/333), along with intravenous immunoglobulin in 6.6% (22/333). Twelve cases received ventilator support. One patient died of hand-foot-and-mouth disease, encephalitis plus cardiopulmonary failure, and 2 premature neonates died of hepatic failure, disseminated intravascular coagulation, sepsis-like syndrome and myocarditis. Eighteen had neurologic sequelae, including 7 with limb weakness, 5 with epilepsy, 2 with sixth cranial nerve palsy, 3 with cerebral palsy, 4 with psychomotor retardation, 2 with spasticity, and 1 with hearing loss. Factors associated with unfavorable outcomes (death or sequelae) included younger age (p=0.0003), higher peak white blood cell count (WBC) [p=0.0009] and skin rash (p=0.005). Younger age and higher peak WBC were poor prognostic factors of severe enterovirus CNS infection. Death was related to neonatal enterovirus infection and enterovirus 71 infection in young children.
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PMID:Clinical features and factors of unfavorable outcomes for non-polio enterovirus infection of the central nervous system in northern Taiwan, 1994-2003. 1634 42

Metabolic diseases of the nervous system vary considerably in their clinical and pathological aspects. In neurological presentations of these disorders dominate mental retardation and epileptic syndrome. We have studied 27 patients of age from 3 months to 3 years: PKU -- 15 cases; homocystinuria -- 4; hyper-prolinemia -- 1; methylmalonic acidemia -- 5 and combined disorders -- 2. Epileptic syndrome was revealed in 21 patients, mental retardation in 1, spasticity in 5 and ataxia in 1 patient. Epileptic syndrome was presented with generalized seizures (grand mal -- 6 cases, myoclonic absences -- 13 cases) and partial seizures (simple motor -- 2 cases). Investigations did not found reliable correlations between certain forms of enzymophaties and EEG patterns. Patients were treated by pathogenic (dietary management with protein-modified diet and vitamin therapy) and symptomatic (anticonvulsants) treatment. We have achieved the positive therapeutic effect by pathogenic and anticonvulsive treatment in 11 patients. All these patients were from the first group (1-3 year). The best outcome was observed in the cases of the early diagnosed PKU. The most severe mental retardation and resistant epilepsy were revealed in patients with combined disorders of metabolism and vitamin-non-responsive forms of MMA and HCS.
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PMID:[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. 1636 68


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