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)

The authors compare the clinical, neurophysiological and evolutive features of progressive myoclonus epilepsy (PME) associated with mitochondrial encephalomyopathy with ragged-red fibers (MERRF), based on 49 cases from the literature, and the two well-described types of degenerative PME: Baltic myoclonus (BM), of which over 100 cases have been reported from Finland, and Mediterranean myoclonus (MM), based on a personal series of 43 patients. Degenerative PMEs are age-dependent, recessively inherited conditions with homogeneous clinical signs and course; there are no major clinical symptoms beside the cardinal symptoms: generalized epileptic seizures, predominantly action myoclonus and cerebellar dysfunction; mental deterioration when present, is slight and progresses very slowly; associated neurological symptoms are uncommon and limited to mild spino-cerebellar involvement. In MERRF, the transmission is maternal, the age of onset is variable, the evolution is not stereotyped and associated symptoms are many (deafness, muscle weakness, optic atrophy, short stature, sensory disturbances, spasticity, clinical or neurophysiological signs of peripheral neuropathy, absence of motor reflexes); muscle biopsy generally shows ragged-red fibers. The differential diagnosis between these conditions is usually easy, although pathological examination (i.e. muscle biopsy) should be performed.
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PMID:[The role of mitochondrial encephalopathies in progressive myoclonus epilepsy]. 196 55

Tropical spastic paraparesis (TSP), a chronic progressive myelopathy, occurs in Ethiopia in epidemic form as neurolathyrism, while the endemic form has remained obscure. We describe the clinical features of 22 patients with TSP and the results of screening for HTLV-1 in these patients, 26 patients with other neurological disorders, 14 patients with leukaemia and 66 blood donors. The major manifestations in the patients with TSP were weakness and spasticity of the lower limbs with upper motor neurone signs and minimal sensory loss and bladder dysfunction. Two patients with TSP (9%), 2 patients with other neurological disorders (7.7%) and one patient with leukaemia and deafness were seropositive for HTLV-1. All the 66 blood donors were seronegative. Our results suggest that HTLV-1 may not play a major role in the pathogenesis of TSP in Ethiopia.
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PMID:Low HTLV-1 seroprevalence in endemic tropical spastic paraparesis in Ethiopia. 206 36

The authors summarize the results of a follow-up study (clinico-electrophysiological) of the S. family living in the Namangan region of the Uzbek SSR. The familial anamnesis data provide evidence in favour of a probable autosomal recessive type of inheritance. A combination of the disease signs has been defined: spasticity, deafness, ataxia and speech disorders. To specify the problem of the given syndrome nosology, further studies into gene mapping are required.
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PMID:[Hereditary spastic paraplegia with coordination disorders and sensorineural deafness]. 217 54

Intelligence was measured by means of the Hiskey-Nebraska Test of Learning Aptitude or the Griffiths Mental Development Scales in a sample of 369 patients from iodine-deficient rural villages (Baihuyao), iodine-sufficient rural villages (Huanglo) and urban populations to test for the damaging effects of iodine deficiency on the development of the nervous system in the presumed healthy section of a community. In urban school-children who were aged seven to 14 years (n = 78), a normal range of measured intelligence was found (mean +/- SD intelligence-quotient score, 107.0 +/- 18.3). By comparison, intelligence-quotient scores were lower in all rural cohorts (a rural suppression effect) but the distribution of intelligence-quotient scores showed a further shift to the left in the iodine-deficient township. In Baihuyaon villagers who were aged 30-35 years (n = 50), who were born during the period of severe iodine deficiency, 72% of villagers had an intelligence-quotient score of less than 70 compared with 41% (P less than 0.05) of villagers who were aged 28-35 years from Huanglo, a rural iodine-sufficient control group (n = 49). Although measured intelligence was higher in Baihuyaon children whose mothers had received iodized salt - 44% of seven- to 14-year-old children had intelligence-quotient scores of less than 70 (n = 141)--it remained significantly depressed compared with rural (n = 51) and urban (n = 78) control subjects (18% and 4%, respectively). These findings were consistent with other parameters (that is, the persistently-high rate of goitre), which indicated that the salt-iodization programme was inadequate. In the iodine-deficient village, lower intelligence-quotient scores showed a relationship with the detection by audiometry of nerve deafness and with the presence of abnormal neurological signs. The latter included spasticity and pyramidal signs which were of a similar pattern to the neurological deficits that have been demonstrated in overt neurological cretins. We conclude that iodine deficiency imposes a further suppressive effect on the intellectual performance of rural inhabitants, and results in a shift of the entire population distribution of cognitive skills to a lower level.
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PMID:Iodine deficiency impairs intellectual and neuromotor development in apparently-normal persons. A study of rural inhabitants of north-central China. 273 14

The clinical and biochemical features of myxoedematous and neurological cretinism were studied in an endemic goitre area in Algeria (goitre prevalence 51.3%; endemic cretinism 1.1%; mean urinary iodine level 127.6 nmol/l). When comparing the data collected in six different villages of the area, significant negative correlations were found between the decrease in urinary iodide and iodide/thiocyanate ratio (I/SCN) and the increase in prevalences of visible goitres, endemic cretinism and transient neonatal hypothyroidism. The cretins were divided on clinical signs into two groups: myxoedematous (MC) and neurological (NC) cretinism. Differences were noted in the neurological signs and the type of deafness encountered in both types. Although some overlap did exist, proximal spasticity and rigidity were characteristic of NC. The hormonal profiles of the two groups, including TRH tests, were clearly different. The two groups were similar with regard to the percentage of palpable thyroids, the absence of antimicrosomal and anti-thyroglobulin antibodies, seropositive viral antibodies and thiocyanate concentrations in serum and urine. Thus it is unlikely that these factors have any significant aetiological role in NC. The data collected in the general population in this area and those obtained in the mothers of the myxoedematous and neurological cretins support the hypothesis that the neurological signs are the result of hypothyroxinaemia in the mothers and the fetus at different periods of pregnancy. They could be aggravated by neonatal hypothyroidism, which may be transient in NC and permanent in MC.
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PMID:Comparative study of neurological and myxoedematous cretinism associated with severe iodine deficiency. 319 4

We have studied the clinical presentation and course of a chronic inflammatory disease occurring in childhood and observed in 30 patients. The first symptoms were generally present at birth, except in a few patients where they were first noticed in early infancy. All the patients had the association of three main symptoms: neurological, cutaneous and articular. The skin rash was the first symptom observed in all the patients and looked like a chronic non pruritic urticaria varying during the day. The articular manifestations involved knees, ankles and feet, elbows, wrists and hands unaffecting the other joints. They could be mild giving arthritis during flare-ups or severe with major radiological modifications affecting the epiphysis, metaphysis and growth cartilage. The neurological manifestations were characterized by a chronic meningitis and symptoms indicating meningeal irritation: headaches, seizures, spasticity of legs. Most patients had a cerebral atrophy and a low IQ. Sensory organ involvement occurred progressively during the follow-up: ocular inflammation with optic atrophy, deafness and hoarseness. Common morphological features characterized these patients with short stature, head enlargement, saddle back nose and short and thick extremities with clubbing of fingers. The course was that of a chronic inflammatory disease with numerous flare-ups associating fever, splenomegaly and adenomegaly. Except for a high level of eosinophils in blood, CSF and tissues, the biology was non specific and only exhibited features of inflammation. Except for two families, the disease was sporadic. A high frequency of prematurity with features resembling a foetal infection was observed but no proof of a possible causal virus has so far been found so that etiology remains unknown.
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PMID:A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. 348 35

We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.
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PMID:A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness. 653 52

We abstracted the results of all English language reports of the outcomes of bacterial meningitis published after 1955. We used hierarchical Bayesian meta-analysis to determine the overall and organism-specific frequencies of death and persistent neurologic sequelae in children 2 months to 19 years of age. A total of 4920 children with acute bacterial meningitis were included in 45 reports that met the inclusion criteria. Children described in the 19 reports of prospectively enrolled cohorts from developed countries had lower mortality (4.8% vs. 8.1%) and were more likely to have no sequelae (82.5% vs. 73.9%). In these 19 studies 1602 children were evaluated for at least 1 sequela after hospital discharge. The mean probabilities of these sequelae were: deafness, 10.5%; bilateral severe or profound deafness, 5.1%; mental retardation, 4.2%; spasticity and/or paresis, 3.5%; seizure disorder, 4.2%; and no detectable sequelae, 83.6%. Mean probabilities of outcomes varied significantly by etiologic bacteria, e.g. mortality: Haemophilus influenzae, 3.8%; Neisseria meningitis, 7.5%; Streptococcus pneumoniae, 15.3%.
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PMID:Outcomes of bacterial meningitis in children: a meta-analysis. 832

In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21.3-Xq22 region2. Using positional information from a patient with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we characterized a novel transcript lying within the deletion as a candidate for this complex syndrome. We now report small deletions in this candidate gene in the original DFN-1/MTS family, and in a family with deafness, dystonia and mental deficiency but not blindness. This gene, named DDP (deafness/ dystonia peptide), shows high levels of expression in fetal and adult brain. The DDP protein demonstrates striking similarity to a predicted Schizosaccharomyces pombe protein of no known function. Thus, is it likely that the DDP gene encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development.
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PMID:A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 884 Nov 89

A 50 year old woman presented with a subacute onset of vertigo and diplopia followed by an encephalopathy with confusion, spasticity, ataxia, myoclonus, and multiple branch retinal arteriolar occlusions and unilateral sensorineural deafness. Brain biopsy confirmed multiple microinfarcts with no vasculitis. After the procedure she had a right iliofemoral deep vein thrombosis and was found to be heterozygous for the factor V Leiden mutation. She was treated with anticoagulants and made a marked recovery with no relapses 6 months after presentation. This case extends the age range at which Susac's syndrome can present, and raises the possibility that the condition may be associated with abnormalities of coagulation.
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PMID:Microangiopathy of the brain and retina with hearing loss in a 50 year old woman: extending the spectrum of Susac's syndrome. 1020 78


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