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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is described having malformation of the anterior chamber with bilateral high IOP combined with multiple ocular anomalies in a 13-year-old girl. Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype. In a chronically alcoholic mother, the association between these systemic and ocular anomalies constitutes a fetal alcohol syndrome. Although the anomalies of other derivatives of the neural crest have already been described in this context, certain of these anomalies, such as malformations of the ectoderm or mesoderm, have not been reported.
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PMID:[Dysgenesis of the neural crest, ectoderm, mesoderm and fetal alcohol syndrome]. 236 54

Rats exposed to ethanol in utero were assessed for changes in gait at 55 days of age. Ethanol-exposed animals had significantly shorter stride lengths, more open step angles, and less gait symmetry than control rats. There were no differences in stance width or apparent speed. This pattern of changes in motor function indicates that prenatal exposure to ethanol produces long-lasting "ataxia" in rats. These results closely resemble previous findings of altered gait following neonatal ethanol exposure in rats, as well as clinical findings in some FAS children. The results are consistent with an hypothesis of prenatal ethanol-induced disruption of functional hippocampal and/or cerebellar development. Ataxia and gait dysfunction may be sensitive indicators of ethanol teratogenesis.
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PMID:Prenatal ethanol alters gait in rats. 324 87

Twenty-one children born 1970-76, selected from 103 children of 30 alcoholic women, were paired to controls matched for sex, age, birth weight and gestational age. The sample (10 girls, 11 boys) was representative of the whole group with regard to weight, length and head circumference at birth. At follow-up (mean age 70 months) the study group was significantly leaner, shorter and had smaller mean head circumference than the control group. The controls had significant catch-up growth from birth to follow-up of weight, height and head circumference to the mean for Swedish children. The study group had no catch-up growth. Compared to controls the study group had significantly lower fine and gross motor age test scores and inferior coordination. One child had cerebral palsy (spastic hemiplegia) and in 6 other children slight tremor and ataxia were observed. Malformations and/or other signs of the fetal alcohol syndrome (FAS) were found in 10 cases. Study group children with FAS had significantly slower growth of head circumference than others without FAS. Children placed in foster home care (n = 11) were found to have significantly (p less than 0.05) lower birth weight, birth length and head circumference than children raised at home (n = 10). There were no significant differences at follow up between study group children raised in foster homes or in homes of their biological mother.
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PMID:Children of alcoholic mothers. Growth and motor performance compared to matched controls. 398 23

Pregnant rats were given a liquid diet containing 5% (w/v) ethanol between gestational days 10 and 21. Cerebella of their offspring were examined at 7 weeks of age. Rats exposed prenatally to ethanol showed a fusion of folia V and VI in the cerebellar vermis. Around the fusion, the cortical laminar structure was disrupted: Purkinje cell dendrites derived from each adjacent folium were tangled, and solitary or clustered ectopic granule cells were in the molecular layer. Some ectopic granule cells surrounded basophilic rosette-like structures. Glial fibrillary acidic protein immunostaining revealed defects in the glia limitans, which is formed by Bergmann glial endfeet on the cerebellar surface. Absence of the glia limitans was observed corresponding to the fusion area. These findings suggested that prenatal exposure to ethanol might impair the formation of the glia limitans in the cerebellum, resulting in the fusion of folia and the disruption of the cortical structure. These malformations may be involved in the delayed motor development and ataxia seen in human fetal alcohol syndrome.
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PMID:Abnormalities of cerebellar foliation in rats prenatally exposed to ethanol. 1154 49

Maternal alcohol consumption during pregnancy can cause serious birth defects, of which fetal alcohol syndrome (FAS) is the most devastating. Recognized by characteristic craniofacial abnormalities and growth deficiency, this condition produces severe alcohol-induced damage in the developing brain. FAS children experience ataxia; deficits in intellectual functioning; and difficulties in learning, memory, problem solving, and attention. Multiple aspects of central nervous system development can be affected by alcohol exposure, but the most striking abnormalities are neuronal and glial migration. Little is known about cellular mechanisms by which alcohol affects the migration of immature neurons. Recently, it has been found that Ca(2+) signaling and cyclic nucleotide signaling are the central targets of the action of alcohol in neuronal cell migration. Most importantly, the aberrant migration of immature neurons caused by alcohol exposure is significantly ameliorated by controlling the activity of these second-messenger pathways. In this Mini-Review, we first describe how alcohol exposure impairs the migration of cerebellar granule cells and then discuss the signaling mechanisms involved.
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PMID:How does alcohol impair neuronal migration? 1713 84

In cerebellum and other brain regions, neuronal cell death because of ethanol consumption by the mother is thought to be the leading cause of neurological deficits in the offspring. However, little is known about how surviving cells function. We studied cerebellar Purkinje cells in vivo and in vitro to determine whether function of these cells was altered after prenatal ethanol exposure. We observed that Purkinje cells that were prenatally exposed to ethanol presented decreased voltage-gated calcium currents because of a decreased expression of the gamma-isoform of protein kinase C. Long-term depression at the parallel fiber-Purkinje cell synapse in the cerebellum was converted into long-term potentiation. This likely explains the dramatic increase in Purkinje cell firing and the rapid oscillations of local field potential observed in alert fetal alcohol syndrome mice. Our data strongly suggest that reversal of long-term synaptic plasticity and increased firing rates of Purkinje cells in vivo are major contributors to the ataxia and motor learning deficits observed in fetal alcohol syndrome. Our results show that calcium-related neuronal dysfunction is central to the pathogenesis of the neurological manifestations of fetal alcohol syndrome and suggest new methods for treatment of this disorder.
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PMID:Purkinje cell dysfunction and alteration of long-term synaptic plasticity in fetal alcohol syndrome. 1753 29

The role of the cerebellum has been increasingly recognized not only in motor control but in sensory, cognitive and emotional learning and regulation. Purkinje cells, being the sole output from the cerebellar cortex, occupy an integrative position in this network. Plasticity at this level is known to critically involve calcium signaling. In the last few years, electrophysiological study of genetically engineered mice has demonstrated the topical role of several genes encoding calcium-binding proteins (calretinin, calbindin, parvalbumin). Specific inactivation of these genes results in the emergence of a fast network oscillation (ca. 160 Hz) throughout the cerebellar cortex in alert animals, associated with ataxia. This oscillation is produced by synchronization of Purkinje cells along the parallel fiber beam. It behaves as an electrophysiological arrest rhythm, being blocked by sensorimotor stimulation. Pharmacological manipulations showed that the oscillation is blocked by GABA(A) and NMDA antagonists as well as gap junction blockers. This cerebellar network oscillation has also been documented in mouse models of human conditions with complex developmental cerebellar dysfunction, such as Angelman syndrome and fetal alcohol syndrome. Recent evidence suggests a relationship between fast oscillation and cerebellar long term depression (LTD). This may have major implications for future therapeutic targeting.
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PMID:Cerebellar network plasticity: from genes to fast oscillation. 1835 74