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

Tremors, mental changes, opsoclonus, muscle weakness, gait ataxia, incoordination, and slurred speech developed in several employees in a Virginia chemical plant during the summer of 1974. Epidemiologic and clinical studies suggested that the chlorinated insecticide chlordecone (Kepone) was responsible. Severity of symptoms seemed directly related to dose and duration of exposure. Five sural nerve and six muscle biopsy specimens were examined by light microscopy and electronmicroscopy. The sural nerves were also evaluated by computerized morphometry, which showed considerable decrease in the number of unmyelinated fibers and lesser abnormalities of myelinated fibers. Compared with the nerves of the control subjects, those of patients may have had an increase in Reich and Elzholz bodies, and a modest increase in endoneurial collagen. There were occasional "collagen pockets," stacks of Schwann cell cytoplasmic membranes, redundant Schwann cell cytoplasmic folds, and fewer unmyelinated axons. The skeletal muscles contained increased amounts of lipofuscin and lipidlike droplets in subsarcolemmal areas and within intermyofibrillary spaces; the significance of this is unknown. Fiber size variability, type I predominance, and type grouping were present in three cases. All results strongly suggest that chlordecone is a neurotoxic agent predominantly affecting Schwann cells and unmyelinated fibers of peripheral nerves.
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PMID:Chlordecone intoxication in man. II. Ultrastructure of peripheral nerves and skeletal muscle. 7 56

Peripheral hypomyelinization was found in 2 Golden Retriever littermates that had pelvic limb ataxia, depressed postural reactions, and depressed segmental reflexes. Diagnostic findings included infrequent denervation potentials, reduced or absent evoked potentials, and markedly diminished motor nerve conduction velocities. Light and electron microscopy of peripheral nerves revealed fewer than normal myelinated axons, myelinated sheaths inappropriately thin for the caliber of the fiber, poor myelin compaction, greater than normal numbers of Schwann cell nuclei, many Schwann cells with voluminous cytoplasm, and greater than normal amount of perineural collagen. Findings were compatible with a peripheral hypomyelinization process; a defect in Schwann cell function was suspected.
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PMID:Peripheral hypomyelinization in two golden retriever littermates. 216 27

Results of embolization and subsequent surgical resection were reviewed in 38 patients with arteriovenous malformations (AVMs) of the brain during the past 3 years. Advanced techniques were used for embolization, including real-time digital subtraction angiofluoroscopy; directable microcatheters; and a mixture of microfibrillar collagen, polyvinyl alcohol sponge microparticles, and ethanol, in addition to acrylic glue. Embolization caused a permanent deficit in four patients (10.5%) (quadrantanopia [n = 3], cerebellar ataxia [n = 1]). Thirty-two patients (84%) underwent surgery after embolization, and 28 (74%) were completely cured, as assessed with postsurgical angiography. Twenty-five patients (66%) had either no deficit or no change in deficit after treatment. Two patients had worsening of a previous deficit after postembolization resection, two patients had mild weakness not previously present, and five patients had visual field defects. One patient developed Gerstmann syndrome after resection, and one patient with ataxia after embolization also had ataxia after surgical resection. Two patients died of complications due to surgical resection. Most of the AVMs in this series were large and complex. Embolization used predominantly as a preoperative procedure enabled complete resection, as achieved in the majority of these cases.
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PMID:Arteriovenous malformations of the brain: recent results of endovascular therapy. 239 38

A clinical and neuropathological study of a case of xeroderma pigmentosum with severe neurological abnormalities was performed. The patient developed sensitivity to the sun, followed by freckles and malignant skin tumors. Some years after the onset of the cutaneous symptoms, a slowly progressive mental deterioration was noted. Subsequently, dysarthria, increased sensitivity and a tendency to cry and to be easily frightened developed together with ataxia and spasticity of the limbs. Late in the course of the disease the patient was severely disabled because of spastic tetraplegia. The clinical examination revealed generalized slowing in EEG, mixed sensory and motor neuropathy in EMG, thick skull, both cerebral cortical atrophy and ventricular dilatation in computed tomography and marked decrease in cerebrospinal homovanillic acid content. The neuropathological study showed marked loss of neurons in the basal nucleus of Meynert, the substantia nigra, the cerebellum, medulla and spinal cord. Diffuse loss of neurons was noted in the cerebral cortex and in the deep cerebral nuclei. In the nerve cells, a high amount of cytoplasmic lipofuscin was observed in some areas of CNS. The sciatic nerve showed marked loss of axons and heavy deposition of collagen around the remaining nerve fibers. The present neuropathological findings explain many of the clinical symptoms observed in xeroderma pigmentosum and show similarities with those observed in olivopontocerebellar atrophy, although the basic mechanism for the CNS damage is still unclear.
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PMID:Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. 370 28

Early administration of vitamin E to low birth weight (less than 1500 g) infants results in alleviation of the symptoms of retinopathy of prematurity and a lowered incidence of intraventricular hemorrhage. If vitamin E is given to children with cholestatic liver disease (orally or parenterally) before 3 years of age, neurological symptoms such as areflexia, ataxia, and sensory neuropathy are prevented or reversed. Restitution of neurological function is more limited in children ages 5-17 years even after prolonged therapy. Vitamin E is also useful in prevention of neuropathy and retinopathy associated with abetalipoproteinemia and cystic fibrosis. Blood levels of tocopherol are often low in subjects with hemolytic anemias. Administration of vitamin E to G-6-P-D-deficient subjects increased hemoglobin levels, and decreased the number of irreversibly sickled cells in sickle-cell anemia subjects. Most trials have indicated that administration of vitamin E for 6 months or more to subjects with intermittent claudication results in longer walking distance and improved blood flow. Vitamin E reduces platelet aggregation, platelet adhesion to collagen, and platelet thromboxane production. Prostacyclin production is generally enhanced. The significance of these effects to thrombotic diseases. Epidemiological studies have indicated that subjects with higher blood levels of vitamin E have lower risk of death from ischemic heart disease and cancer, a lower risk of breast cancer, and a lower incidence of infections.
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PMID:Clinical uses of vitamin E. 391 44

Manganese, zinc and copper are essential for normal prenatal and neonatal development. Manganese deficiency causes skeletal abnormalities, congenital ataxia due to abnormal inner ear development, and abnormal brain function. Depression of mucopolysaccharide synthesis and manganese superoxide dismutase activity may be fundamental to ultrastructural and other defects. In copper deficiency, neurological and skeletal abnormalities are due to impairment of phospholipid synthesis and collagen crosslinking, and possibly to low activity of copper metalloenzymes. The fundamental defect leading to the extremely teratogenic effects of zinc deficiency is related to depressed synthesis of DNA. In the neonatal period, poor survival and growth and depressed function of the immune system are salient features. Developmental patterns of trace element concentrations in various tissues suggest that important changes in metabolic regulation of trace elements may occur during the neonatal period. This hypothesis is being investigated by studies of molecular localization of trace elements in certain neonatal tissues, in conjunction with similar observations in milk.
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PMID:The roles of trace elements in foetal and neonatal development. 611 92

In addition to the dominating area containing genes MHC-the major histocompatibility complex with a number of other important genes which are between locuses of HLA, the 6th chromosome is the carrier of genes for idiopathic types of epilepsy, haemochromatosis, spinocerebellar ataxia, whereby the latter belongs among diseases caused by expansion of intragenic repetitions. On the 6th chromosome we find also representatives of the family of collagen locuses, COL9A1 and COL11A2, and as clotting factor F13A1. It is assumed that there are also some locuses which control some types of cleft lip and palate.
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PMID:[The human genome--chromosome 6]. 775 70

Osteogenesis imperfecta (OI) is a heritable disorder of bone development caused by defective collagen synthesis. Basilar invagination is an uncommon but devastating complication of this disease. The authors present a comprehensive strategy for management of craniovertebral anomalies associated with OI and related osteochondrodysplasias. Twenty-five patients with congenital osteochondrodysplasias (18 OI, four Hajdu-Cheney syndrome, and three spondyloepiphyseal dysplasia) and basilar invagination were evaluated between 1985 and 1995. The male/female ratio in this cohort was 1:1. The mean age at presentation was 11.9 years (range 13 months-20 years). Fourteen patients (56%) presented during adolescence (11-15 years of age). Symptoms and signs included headache (76%), lower cranial nerve dysfunction (68%), hyperreflexia (56%), quadriparesis (48%), ataxia (32%), nystagmus (28%), and scoliosis (20%). Four patients (16%) were asymptomatic. Seven (28%) had undergone previous posterior fossa decompression; one had also undergone ventral decompression. Imaging findings included basilar invagination (100%), ventral brainstem compression (84%), hydrocephalus (32%), hindbrain herniation (28%), and syringomyelia/syringobulbia (16%). Patients with hydrocephalus underwent ventricular shunt placement. Reducible basilar invagination (40%) was treated with posterior fossa decompression and occipitocervical fusion. Those with irreducible ventral compression (60%) underwent transoral-transpalatopharyngeal decompression followed by occipitocervical fusion. All patients improved initially. However, basilar invagination progressed radiographically in 80% (symptomatic in 24%) despite successful fusion. Prolonged external orthotic immobilization with the modified Minerva brace afforded symptomatic improvement and arrested progression of the deformity. The mean follow-up period was 5.9 years (range 1.1-10.5 years). Ventral brainstem compression in OI should be treated with ventral decompression, followed by occipitocervical fusion with contoured loop instrumentation to prevent further squamooccipital infolding. Despite fusion, however, basilar invagination tends to progress. Prolonged immobilization (particularly during adolescence) may stabilize symptoms and halt further invagination. This study represents the largest series to date addressing craniovertebral anomalies in OI and related congenital bone softening disorders.
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PMID:Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. 917 Nov 73

Caselli and colleagues described five cases with encephalopathy, progressive cognitive decline, ataxia, abnormal CSF studies and steroid responsiveness, and proposed the term non-vasculitic autoimmune inflammatory meningoencephalitis (NAIM). Many of these cases had brain biopsy showing mild leptomeningeal perivascular lymphocytic inflammation, however, none of the cases had a post-mortem. Nonvasculitic autoimmune mediated meningoencephalitis has been described in patients with Sjogren's syndrome, systemic lupus erythematosus and, more recently, with Hashimoto's disease. The present study is the first post-mortem report of a case with a clinical diagnosis of NAIM. Neuropathological examination revealed a panencephalitis with intact vessel walls. T and B immunostaining showed a mixture of T and B cells. The findings were not consistent with other reported findings in collagen vascular diseases including Sjogren's syndrome, CNS vasculitis or Hashimoto's encephalopathy. There was no evidence of neoplasia, bacteria, acid-fast bacilli, fungi or atypical infectious agents. This is the first post-mortem report of a case with a clinical diagnosis of NAIM and demonstrates a panencephalitis without evidence of a vasculitis. The pathology seems unique, however, Sjogren and Hashimoto's encephalopathy might be variants of NAIM.
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PMID:Nonvasculitic autoimmune inflammatory meningoencephalitis. 1513 93

Spontaneous cerebellar hemorrhage (SCH) represents approximately 10% of all intracerebral hemorrhage (ICH) and is an important clinical problem of which little is known. This study stereotaxically infused collagenase (type VII) into the deep cerebellar paramedian white matter, which corresponds to the most common clinical injury region. Measures of hemostasis (brain water, hemoglobin assay, Evans blue, collagen-IV, ZO-1, and MMP-2 and MMP-9) and neurodeficit were quantified 24 hours later (Experiment 1). Long-term functional outcomes were measured over 30 days using the ataxia scale (modified Luciani), open field, wire suspension, beam balance, and inclined plane (Experiment 2). Neurocognitive ability was assessed on the third week using the rotarod (motor learning), T maze (working memory), and water maze (spatial learning and memory) (Experiment 3), followed by a histopathological analysis 1 week later (Experiment 4). Stereotaxic collagenase infusion caused dose-dependent elevations in brain edema, neurodeficit, hematoma volume, and blood-brain barrier rupture, while physiological variables remained stable. Most functional outcomes normalized by the third week, while neurocognitive testing showed deficits parallel to the cystic-cavitary lesion at 30 days. All animals survived until sacrifice, and obstructive hydrocephalus did not develop. These results suggest that the model can generate important translational information about this subtype of ICH and could be used for future investigations of therapeutic mechanisms after cerebellar hemorrhage.
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PMID:Characterization of the brain injury, neurobehavioral profiles, and histopathology in a rat model of cerebellar hemorrhage. 2119 29


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