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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two new cases of infantile myoclonic encephalopathy are reported and a survey of literature is given. The disease is characterized by generalised myoclonic jerks in all striated muscles, by cerebellar ataxia and by fast, jerking, mostly conjugated irregular eye movements (opsoclonus). The disease develops mostly during late infancy and early childhood. The pathogenesis is unknown, probably it is caused by immunological reactions to various agents. Treatment with ACTH or corticosteroids leads to rapid remission of the initial neurological symptoms, but it is suggested that therapy does not prevent frequent sequelae of psychomotor retardation and speech distubances. Remarkably, there is the high coincidence of infantile myoclonic encephalopathy and neuroblastoma. Therefore it is necessary to keep in mind the possibility of a causative neuroblastoma in all children with myoclonic encephalopathy and to control repeatly radiological findings and urin-excretion of catecholamines as well as their metabolic products.
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PMID:[Myoclonic encephalopathy in childhood (author's transl)]. 19 87

A family from Western Norway is described in which 5 out of 9 members in one generation developed a progressive encephalopathy in middle life. Massive, symmetrical calcifications located in basal ganglia, dentate nuclei and cerebral sulci of the brain were seen on roentgenograms of the skull. All affected members exhibited a clinical syndrome which included mental deterioration, extrapyramidal motor deficit, cerebellar ataxia and tremor. The biochemical investigation showed normal serum calcium and phosphorous and concentration of immunoreactive parathyroid hormone was normal. The Ellsworth-Howard test with exogenously administered parathyroid extract revealed a subnormal phosphorous diuresis while urinary excretion of cyclic AMP was normal. Thus, the defect appears to be an insufficient intracellular response to cyclic AMP. The late onset of symptoms is compatible with the slight disturbance in calcium-phosphorous metabolism we have demonstrated. The family probably represents an unusual type of pseudo-pseudohypoparathyroidism of which only one other family has been reported earlier. The investigations and pedigree analysis of the present kindred is suggestive of an autosomal recessive inheritance of the disorder.
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PMID:Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism. 20 54

The central metabolism of dopamine, serotonin, cyclic AMP and cyclic GMP was studied by use of the probenecid test in three patients with bismuth encephalopathy and in one patient with mercury encephalopathy. The accumulation of HVA and of cGMP in the cerebrospinal fluid was depressed during the acute phase of bismuth encephalopathy with severe hyposomnia, while it was increased in a patient with regression of clinical symptoms and normal in a patient with more advanced recovery. The patient with chronic mercury poisoning showing a severe cerebellar ataxia and rigidity had an almost complete suppression of HVA accumulation and an increase of cGMP accumulation. No pronounced differences of 5-HIAA and cAMP behavior were found. It is concluded that the central metabolism of dopamine and of cGMP is severely affected in bismuth and mercury encephalopathies.
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PMID:[Monoamine metabolites and cyclic nucleotides in the cerebrospinal fluid of patients with bismuth or mercury poisoning]. 21 33

We describe 7 children with myoclonic encephalopathy of infants (MEI). MEI is a clinical entity characterized by an acute or subacute onset of polymyoclonia, cerebellar ataxia and opsoclonus ("dancing eyes"). It occurs either spontaneously, following an infectiuos illness or in association with an occult neuroblastoma. It is likely that immunological factors play a role in the pathogenesis. Steroid therapy resulted in rapid dramatic improvement of the neurological symptoms in 4 cases. However, this initial response did not correlate with the eventual outcome. We reviewed the literature to compare 45 reported cases of MEI associated with a neuroblastoma with 48 children without such a tumor to identify possible differences in clinical presentation, response to steroid medication and long-term prognosis of the neurological syndrome. In this respect we found no differences. Impairment of motor, verbal or intellectual performance were reported in at least half the cases. Although an immediate and marked response to steroids occurs in many cases of both groups, it remains unclear whether the long-term outcome is favourably influenced by this medication. The two-year-survival rate (90%) in the neuroblastoma group and the percentage of mediastinal localisation of the tumor (49%) are much higher compared with neuroblastomas without MEI. The reasons for these remarkable differences are not known. Diagnostic, therapeutic and prognostic implications justify the separation of MEI from the more common and benign syndrome known as acute cerebellar ataxia of childhood.
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PMID:Myoclonic encephalopathy of infants or "dancing eyes syndrome". Report of 7 cases with long-term follow-up and review of the literature (cases with and without neuroblastoma). 22 13

Scrapie and transmissible mink encephalopathy were studied in hamsters; clinical signs, pathology, and the replication of the agents of each disease in brain and spleen were compared. The most noticeable clinical sign in scrapie-affected hamsters was a distinct cerebellar ataxia beginning 16 weeks after inoculation. Ataxia was not prominent in animals affected with transmissible mink encephalopathy; these animals gradually became more and more lethargic. The pathology in the central nervous system in both diseases consisted of astrocytic hypertrophy, microvacuolation of the neuropil, and neuronal degeneration. The scrapie agent appeared to have a greater effect on nuclear masses, especially those present in brain stem and the central white matter of the cerebellum. The earliest lesions in both diseases were detected near pia arachnoid surfaces and adjacent to the ventricular system. These initial sites of involvement suggest that the cerebrospinal fluid may be an important route by which inocula are disseminated to susceptible cells after intracerebral inoculation. Both agents multiplied rapidly in brain, reaching titers greater than 10-8 ld-50/0.05 ml before the onset of clinical signs. Titers in spleen were 4-6 logs lower than titers in brain at every point measured during the asymptomatic or clinical course of disease.
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PMID:Comparison of scrapie and transmissible mink encephalopathy in hamsters. II. Clinical signs, pathology, and pathogenesis. 116 84

This paper reviews the neurological complications of malaria. Cerebral malaria, the acute encephalopathy which complicates exclusively the infection by Plasmodium falciparum commonly affects children and adolescents in hyperendemic areas. Plugging of cerebral capillaries and venules by clumped, parasitized red blood cells causing blood sludging in the capillary circulation is one hypothesis to explain its pathogenesis. The other is a humoral hypothesis which proposes a nonspecific, immune-mediated, inflammatory response with release of vasoactive substances capable of producing endothelial damage and alterations of permeability. Cerebral malaria has a mortality rate up to 50%, and also a considerable longterm morbidity, particularly in children. Hypoglycemia, largely in patients treated with quinine, may complicate the cerebral symptomatology. Other central nervous manifestations of malaria include intracranial hemorrhage, cerebral arterial occlusion, and transient extrapyramidal and neuropsychiatric manifestations. A self-limiting, isolated cerebellar ataxia, presumably caused by immunological mechanisms, in patients recovering from falciparum malaria has been recognized in Sri Lanka. Malaria is a common cause of febrile seizures in the tropics, and it also contributes to the development of epilepsy in later life. Several reports of spinal cord and peripheral nerve involvement are also available. A transient muscle paralysis resembling periodic paralysis during febrile episodes of malaria has been described in some patients. The pathogenesis of these neurological manifestations in malaria remains unexplored, but offers excellent perspectives for research at clinical as well as experimental level.
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PMID:Neurological complications of malaria. 129 73

The involvement of the nervous system in malaria is reviewed in this paper. Cerebral malaria, the acute encephalopathy which complicates exclusively the infection by Plasmodium falciparum commonly affects children and adolescents in hyperendemic areas. Plugging of cerebral capillaries and venules by clumped, parasitized red cells causing sludging in the capillary circulation is one hypothesis to explain its pathogenesis. The other is a humoral hypothesis which proposes nonspecific, immune-mediated, inflammatory responses with release of vasoactive substances capable of producing endothelial damage and alterations of permeability. Cerebral malaria has a mortality rate up to 50%, and also a considerable longterm morbidity, particularly in children. Hypoglycemia, largely in patients treated with quinine, may complicate the cerebral symptomatology. Other central nervous manifestations of malaria include intracranial hemorrhage, cerebral arterial occlusion, and transient extrapyramidal and neuropsychiatric manifestations. A self-limiting, isolated cerebellar ataxia, presumably caused by immunological mechanisms, in patients recovering from falciparum malaria has been recognized in Sri Lanka. Malaria is a common cause of febrile seizures in the tropics, and it also contributes to the development of epilepsy in later life. Several reports of spinal cord and peripheral nerve involvement are also available. A transient muscle paralysis resembling periodic paralysis during febrile episodes of malaria has been described in some patients. The pathogenesis of these neurological manifestations remains unexplored, but offers excellent perspectives for research at a clinical as well as experimental level.
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PMID:Neurological manifestations of malaria. 130 75

Experimental transmission of the Stetsonville, Wisconsin, U.S.A. source of transmissible mink encephalopathy (TME) to outbred Syrian golden hamsters resulted in two distinct syndromes, termed hyper (HY) and drowsy (DY), that diverge by the third hamster passage. The syndromes differed with respect to clinical signs, incubation period, brain titre, brain lesion profile and pathogenicity in mink. HY hamster TME had an incubation period of 65 +/- 1 days and was characterized by clinical signs of hyperaesthesia and cerebellar ataxia. Lethargy and the absence of hyperexcitability or cerebellar ataxia were representative of DY hamster TME which had an incubation period of 168 +/- 2 days. At endstage, HY and DY infected animals had brain titres of 10(9.5) LD50/g and 10(7.4) LD50/g of tissue, respectively, indicating that the replication kinetics of these two strains is different. Hamster TME passaged back into mink revealed that only DY retained mink pathogenicity. This suggests that the DY agent is the major mink pathogen in the Stetsonville TME source that is also pathogenic in hamsters after a long incubation period. The HY agent is likely to be a minor component of the original TME mink brain that replicates more rapidly than DY agent in hamsters, but alone is non-pathogenic in mink. The presence of the HY and DY strains of agent that retain their biological characteristics on repeated hamster passage in the Stetsonville TME source requires that the informational molecule encoding these transmissible agents has the capacity to account for this biological diversity.
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PMID:Identification of two biologically distinct strains of transmissible mink encephalopathy in hamsters. 153 75

A case report deals with an observation of a 58 year old woman with small-cell cancer of the lung metastasizing to regional lymph nodes. Quickly and early before any manifestation of the underlying fatal illness a paraneoplastic encephalopathy developed with psychiatric and neurological signs of cerebellar ataxia and secondary epilepsy.
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PMID:[Unusual paraneoplastic encephalopathy in a case of bronchogenic carcinoma]. 165 17

We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions. The course was progressive and led to death within 8 years. The pathological findings included bilateral and almost symmetrical lesions involving the thalami, the colliculi, and the pontine and medullar tegmentum, similar to the changes described in Leigh disease. Neuronal loss and gliosis were noted in the dentate nucleus and in the inferior olive, as in MERRF syndrome. Laminar necrosis of the cerebral cortex could have been due to episodes of severe hypotension before death. Cytochrome c oxidase deficiency was found in case 2. The enzyme deficiency was present in muscle and in fibroblasts in culture.
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PMID:[Familial mitochondrial encephalopathy. A clinicopathologic study]. 166 Jan 81


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