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Results for “CEREBELLAR DISEASES”

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At least 883 records · Page 49Linked to original sources
PubMed1995

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.

A polyglutamine expansion (encoded by a CAG repeat) in specific proteins causes neurodegeneration in Huntington's disease (HD) and four other disorders, by an unknown mechanism thought to involve gain of function or toxicity of the mutated protein. The pathological threshold is 37-40 glutamines in three of these diseases, whereas the corresponding normal proteins contain polymorphic repeats of up to about 35 glutamines. The age of onset of clinical manifestations is inversely correlated to the length of the polyglutamine expansion. Here we report the characterization of a monoclonal antibody that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3. The intensity of signal depends on the length of the polyglutamine expansion, and the antibody also detects specific pathological proteins expected to contain such expansion, in SCA2 and in autosomal dominant cerebellar ataxia with retinal degeneration, whose genes have not yet been identified.

Adult↗
PubMed1998

Predicting disease progression in childhood cerebellar astrocytoma.

Pediatric cerebellar astrocytomas are frequently curable by complete surgical resection. However, even incompletely resected tumors may lie dormant indefinitely or spontaneously involute, and tumors thought to be completely excised have reappeared in the same location several years later. Because of the unpredictable nature of some cerebellar astrocytomas, this study was designed to analyze several variables for their potential value in predicting disease progression. The charts of 78 children treated at a children's hospital between 1966 and 1993 were reviewed; 62 tumors were pilocytic, 13 were fibrillary, and 3 were mixed oligoastrocytomas. Four children had the additional diagnosis of neurofibromatosis type 1, and those children were considered separately. Of the remaining 74 children, 48 underwent postoperative contrast-enhanced computerized tomography or magnetic resonance imaging. Of those 48 children, 17 had residual disease, and in 15 cases the tumor volume could be measured. Frequently the surgeon's report conflicted with the postoperative scan regarding the presence of residual disease. However, the surgeon's report of brainstem infiltration correlated highly with residual disease on postoperative imaging. On univariate Cox analysis, sex, age, tumor location, and tumor morphology did not show prognostic significance. In spite of their differences, the surgeon's report of residual tumor and the presence of residual disease on postoperative imaging were similar in their correlation with disease progression. However, on multivariate analysis, the volume of residual tumor was most closely linked with disease progression. Only the presence of fibrillary histology significantly complemented the volume of residual tumor as a negative prognostic indicator.

Adolescent↗
PubMed1999

Idiopathic cerebellar ataxia associated with celiac disease: lack of distinctive neurological features.

OBJECTIVES: To determine the occurrence of celiac disease in a population of ataxic patients without definite diagnosis and to characterise distinctive features which may help to differentiate cerebellar ataxia with and without celiac disease. METHODS: Twenty four ataxic patients without definite diagnosis (group A) and 23 ataxic patients with definite diagnosis (group B) were screened for antigliadin (AGAs) and antiendomysium antibodies (EMAs). Patients with a positive AGA or EMA test underwent endoscopic biopsy of the duodenal mucosa. RESULTS: There was an increased prevalence of celiac disease in group A (3/24) compared with group B (0/23). None of the celiac patients presented gastrointestinal symptoms or malabsorption signs. None of the ataxic patients with celiac disease had early onset ataxia. CONCLUSIONS: Celiac disease is associated with ataxic syndromes without definite diagnosis, suggesting that it plays a part in the pathogenesis of some ataxic syndromes. The absence of distinctive neurological features in ataxic patients with celiac disease suggests that a search should be made for celiac disease markers in all ataxic patients without definite diagnosis.

Adult↗
PubMed1979

[Polygraphic study of nocturnal sleep in three degenerative diseases: ALS, oligo-ponto-cerebellar atrophy, and progressive supranuclear palsy].

A polygraphic study of nocturnal sleep was carried out on 12 patients suffering from amyotrophic lateral sclerosis (ALS), 6 patients suffering from olivio-ponto-cerebellare-atrophia (OPCA) and 9 patients suffering from the Steele-Richardson disease (SR). A disturbance of sleep--if it exists--always runs parallel with the course of the disease. No disturbances were registered in the group of patients suffering from ALS, in the OPCA group a specific disease of paradoxal sleep is observed. The sleep disturbances are more global in the group of patients suffering from the SR disease. A particular electrooculogram was taken from the patients from the awakening and from the paradoxal sleep. Respiratory difficulties were registered on certain patients of each of the three groups. These sleep disturbances, registered by the polygraph, were compared with those observed on patients presenting a cortical disease.

Adult↗
PubMedDate not supplied

Alterations of ballistic movements in epileptic patients with phenytoin intoxication.

We assessed the effects of phenytoin (PHT) overdosage on ballistic arm abduction movements in nine epileptic patients receiving long-term PHT treatment. During the overdosage period, all but one showed clinical abnormalities referable to impaired cerebellar function; one also had slowness of movement. Ballistic movements showed abnormalities in all of the patients although a great variability was present in the type and severity of abnormalities. In four patients, kinematic and EMG recordings differed least from the normal, in four they resembled those described in patients with cerebellar deficits, and in one those described in patients with Parkinson disease. The type and severity of clinical disturbances of voluntary motor control as well as alterations of ballistic movements were not related to specific PHT plasma concentrations. One month after the adjustment of PHT dosage, the patients who had clinical abnormalities completely recovered or markedly improved. Previously observed kinematic and EMG abnormalities completely disappeared or improved markedly.

Adult↗
PubMed1999

[Guillain-Barré syndrome with cerebellar symptoms and elevated serum anti-GD1b IgG antibody].

We reported a 46-year-old woman with Guillain-Barré syndrome (GBS) after suffering from common cold. She also had cerebellar symptoms; ataxic speech, poor finger-nose and heel-knee tests, dysmetria, dysdiadochokinesis, poor one foot standing, positive Mann's test, ataxic gait, and poor tandem gait without Romberg's sign, and sensory disturbance. We ruled out other diseases with cerebellar symptoms; for example, Wernicke encephalopathy, multiple sclerosis, cerebellar vascular disease and encephalitis in the brain stem and cerebellum. Anti-GD1bIgG antibody was elevated in her serum in the acute phase. She was treated with immuno-adsorption therapy (TR-350) in the acute phase. The antibody titer decreased with clinical improvement after immuno-adsorption therapy. The involvement of the anti-GD1bIgG antibody in the pathogenetic mechanism of peripheral neuropathy and cerebellar symptoms was suggested.

Autoantibodies↗
PubMed1988

Neoplastic meningitis with eosinophilic pleocytosis in Hodgkin's disease: a case with cerebellar dysfunction and a review of the literature.

A 31-year-old man had Hodgkin's disease (stage IIA, nodular sclerosis) in apparent remission after radiotherapy. Nine months after the diagnosis of Hodgkin's disease, he developed neoplastic meningitis with eosinophilic pleocytosis and neurologic findings suggestive of peri-fourth ventricle infiltration. Morphologic and surface marker analysis of cerebrospinal fluid cells showed large numbers of T-lymphocytes and Reed-Sternberg variant cells positive for CD15, the Lex hapten expressed on myeloid cells and on a variety of malignant cells. Therapy with intrathecal methotrexate, oral dexamethasone, and cranial irradiation resulted in prompt resolution of his cerebrospinal fluid abnormalities and neurologic deficits. Ten months after the diagnosis of eosinophilic meningitis, systemic relapse of Hodgkin's disease occurred in right iliac and inguinal lymph nodes. The diagnosis, pathogenesis, and therapy of this unusual complication of Hodgkin's disease are reviewed.

Adult↗