Cases reported "Cerebellar Ataxia"

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11/49. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for chediak-higashi syndrome.

    Three patients with chediak-higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. The outcome was uneventful, with sustained mixed chimerism. No subsequent recurrent infections or hemophagocytic syndrome were observed. At the age of 22 to 24 years, these 3 patients developed a neurologic deficit combining difficulty walking, loss of balance, and tremor. Neurologic evaluation demonstrated cerebellar ataxia and signs of peripheral neuropathy. Moderate axon loss and rarefaction of large myelinated fibers were observed on semithin sections of peripheral nerve. Cerebellar atrophy was detected by cerebral magnetic resonance imaging in 2 patients. We also reviewed the very long-term outcome of the other 11 patients with chediak-higashi syndrome who had received bone marrow transplants at our center since 1981. All displayed neurologic deficits or low cognitive abilities.
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keywords = tremor, action
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12/49. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

    BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a novel disorder in male carriers of premutations of the fragile X mental retardation 1 gene (FMR1), was recently described. The clinical presentation of FXTAS most closely resembles multiple system atrophy (MSA) because both disorders manifest with cerebellar ataxia, intention tremor, autonomic dysfunction, and parkinsonism. It has been proposed that FXTAS might be a common neurodegenerative disorder. OBJECTIVE: To determine whether FXTAS accounts for patients currently diagnosed as having MSA or a related clinical diagnosis. DESIGN: patients with MSA or related phenotypes were examined by experienced movement disorders neurologists, and dna samples were obtained for genetic study. SETTING: Salpetriere Hospital. patients: Seventy-seven patients clinically diagnosed as having MSA, 19 as having olivopontocerebellar atrophy, and 27 as having cerebellar ataxia. MAIN OUTCOME MEASURE: The number of FMR1 repeats was determined in all patients by polymerase chain reaction. alleles above 40 CGG repeats were controlled by Southern blot analysis. RESULTS: Two patients carried FMR1 premutations of 110 and 135 repeats: a man with a familial form of cerebellar ataxia and a woman diagnosed as having MSA-cerebellar type. In addition, 9 patients (7%) carried alleles in the intermediate size range, from 41 to 53 repeats. CONCLUSIONS: We confirm the recent initial description of FXTAS in women. Our data suggest that FXTAS is rare in MSA and indicate that FXTAS might be less prevalent than proposed.
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ranking = 16.740098708631
keywords = intention tremor, tremor, intention, action
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13/49. Caudal paramedian midbrain syndrome.

    BACKGROUND: Caudal midbrain lesions involving the entire decussation of the superior cerebellar peduncles have a distinctive clinical picture: bilateral cerebellar ataxia, eye-movement disorders, and palatal myoclonus. Occasionally, unilateral lesions may produce a similar neurologic picture. OBJECTIVE: To define the clinical and radiologic picture of patients with unilateral lower midbrain ischemic lesions of the decussation of the brachium conjunctivum. methods: Five patients with MRI evidence of unilateral paramedian caudal midbrain infarction were investigated, after the acute stage. RESULTS: All patients had bilateral cerebellar dysfunction characterized by dysarthric speech, truncal and gait ataxia, and dysmetric movements of the limbs, which were more pronounced on one side. Ocular movement abnormalities were observed in three cases. A constant MRI finding was a bilateral inferior olivary degeneration, but only one patient displayed a delayed palatal tremor. CONCLUSIONS: A single strategically placed unilateral lesion can cause bilateral dysfunction. In addition, a bilateral cerebellar syndrome can occur with unilateral lesions in the lower midbrain with a wide range of other clinical features.
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ranking = 0.99929836416106
keywords = tremor
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14/49. Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism.

    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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ranking = 0.99929836416106
keywords = tremor
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15/49. Familial ataxia with abnormal CSF, with special reference to an autopsy case from three affected siblings.

    We report here the clinical features of 3 affected siblings and neuropathological findings of the CNS from an autopsied case among them. Their common clinical features consisted of cerebellar ataxia and tremors through movements and postures. Two of the 3 siblings showed autonomic abnormalities, hard-of-hearing, pyramidal sign and areflexia. Then they always had xanthochromia and an elevated protein without pleocytosis in their CSFs. Neuropathologically, intracytoplasmic eosinophilic inclusion bodies were found in the neurons of some restricted nuclei or nerve cell groups of the brain stem, cerebellum and spinal cord. Similar bodies appeared also in glial, ependymal and choroid plexus epithelial cells. Such eosinophilic bodies are thought to consist of protein-rich substances from histochemical properties, and result from an unknown inherited metabolic error.
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keywords = tremor
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16/49. Direct invasion of the central nervous system by mycoplasma pneumoniae: a report of two cases.

    We studied two patients with involvement of the central nervous system (CNS) associated with mycoplasma pneumoniae. One patient had encephalitis and acute cerebellar ataxia, whereas the second had a mixed picture of encephalitic reaction superimposed on a disseminated malignancy of unknown origin. Specific IgM antibodies to M. pneumoniae were detected in the patients' sera but not in their cerebrospinal fluid. M. pneumoniae was repeatedly isolated by cultures from throat swabs and cerebrospinal fluid samples from both patients. Our patients add to previous reports suggesting that CNS involvement may result from direct invasion of the CNS by the pathogen.
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keywords = action
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17/49. Delayed cerebellar ataxia: a new complication of falciparum malaria?

    Twelve cases of an unusual phenomenon of ataxia were investigated in otherwise well, conscious patients recovering from a febrile attack of presumed falciparum malaria. The ataxia occurred as the fever was subsiding, usually after an afebrile period of two to four days. The delay between onset of fever and the ataxia was three to four weeks. Peripheral blood of all the patients contained gametocytes of plasmodium falciparum, and in some cases ring stages. The ataxia was most noticeable in the legs and the clinical picture suggested selective impairment of the cerebellar system. Signs of improvement appeared in a few weeks but complete recovery took one to four months. The most likely pathogenic mechanism of the ataxia in these cases was an immune reaction triggered by the malaria parasite and affecting the cerebellum or its connections, or both.
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keywords = action
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18/49. A case of lithium intoxication with downbeat vertical nystagmus.

    lithium carbonate has recently been used in the treatment of manic diseases. However, since the marginal range between therapeutic and toxic doses is very narrow, close attention should be paid to the development of adverse reactions in its application. Lithium intoxication is manifested by neurological symptoms. Neurotological tests were performed on a patient with lithium intoxication that occurred in the course of psychiatric treatment of mania. The observed sequelae included marked downbeat vertical nystagmus and truncal ataxia. The main lesions in the present case were considered to be located in the cerebellum. Close observation, including neurotological tests, is of greatest importance because in cases of lithium intoxication the development of cerebellar as well as brainstem disorders must not be overlooked.
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19/49. Mumps-induced opsoclonus-myoclonus and ataxia.

    A 9-year-old boy manifested acute cerebellar ataxia associated with mumps infection. He developed opsoclonus, myoclonus, tremor, and truncal ataxia 7 days after mumps infection. Lumbar puncture revealed pleocytosis without elevation of protein; ELISA demonstrated an increased IgM titer of cerebrospinal fluid against mumps virus. From these results it was determined that acute cerebellar ataxia was induced by a direct invasion of mumps virus. electroencephalography demonstrated normal background activity, although alpha-like activity appeared bilaterally in the frontal regions which was induced by eye closure and decreased by eye opening. Polygraphic electroencephalography revealed that the alpha-like activity corresponded to the ocular movement recorded above or lateral to the eyelids by electro-oculography; therefore, the alpha-like activity was considered to be derived from the opsoclonus which was secondary to cerebellar involvement. His neurologic symptoms improved gradually and resolved completely within 3 months after the onset of acute cerebellar ataxia.
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ranking = 0.99929836416106
keywords = tremor
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20/49. Presence of an autoantibody against a Golgi cisternal membrane protein in the serum and cerebrospinal fluid from a patient with idiopathic late onset cerebellar ataxia.

    Tissue and cultured cells of different species and embryological origins incubated with serum (diluted up to 10,000-fold) or cerebrospinal fluid (CSF) (6-fold dilution) from a 48-year-old female patient with idiopathic late-onset cerebellar ataxia, exhibited a bright specific perinuclear staining when studied by indirect immunofluorescence microscopy. The pattern of the staining was that characteristic of the golgi apparatus, consisting of a crescent-shaped juxtanuclear reticulum located in the vicinity of the microtubule organizing center. Changes in location and organization of the organelle stained by the patient's serum during mitosis or after incubation of the cells with Colcemid, taxol or monensin, resulted in a disruption of the reticulum that followed the expected patterns for golgi apparatus. The staining was specifically absorbed with Golgi cisternae-enriched membrane fractions. Finally, dot-immunoblotting studies of membrane and soluble fractions of Golgi cisternae and vesicles showed that the anti-Golgi antibody (AGA) reacted with the cytoplasmic domain of an integral membrane protein contained in the Golgi cisternae. The presence of this unusual autoantibody in an idiopathic late-onset cerebellar ataxia-bearing patient can afford some insights into the pathogenesis of these neurological diseases.
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ranking = 0.001403271677886
keywords = action
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