Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of neuroblastoma is sometimes preceded by development of a paraneoplastic syndrome, most commonly opsoclonus-myoclonus-ataxia (OMA). The authors describe a patient who developed a hyperexcitable blink reflex, without symptoms of OMA, prior to his oncologic diagnosis. The authors believe this may represent a distinct paraneoplastic process caused by increased dopaminergic stimulation of the blink reflex and suggest that children manifesting an unexplained hyperexcitable blink reflex should be screened for occult neuroblastoma.
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PMID:Hyperexcitable blink reflex preceding the diagnosis of neuroblastoma. 1545 39

We report a 60-year-old man with a 6-year history of tremor in his hands. He noted the onset of short of breath and gait disturbance in 1994; both of these symptoms were slowly progressive. Then recently he developed fever two months prior to the present admission. He was admitted to the rheumatology department of our hospital and neurological consultation was asked on December 13, 2000. On neurologic examination, he showed Gottron sign and fine crackle in both lungs. Pertinent neurological findings were bilateral dysmetria in finger-to-nose and heel-to-knee tests and a broad-based gait. In addition, he showed intention tremor in upper extremities more on the left. Romberg sign was positive. Deep tendon reflexes were decreased. Vibratory sensation was reduced at the wrists. The patient's hemoglobin was 11.1 g/dl, with a mean corpuscular volume of 92.0 fl. Vitamin B12 level was 190 (reference range, >230 pg/ml). Serum lactic acid, pyruvic acid and ceruloplasmin were slightly elevated. Chest X-ray showed interstitial pneumonia. Muscle biopsy showed grouping of small angular fiber. Brain MRI showed diffuse atrophy of the cerebral cortex and the cerebellum hemisphere. Thalamotomy did not improve his tremor. He was admitted again in November 2001. General worsening of his neurological findings was observed. IL2-receptor was markedly elevated. Serum anti-Hu, Yo and Ri antibodies were negative. An anaplastic carcinoma was found in his jejunum. He died from respiratory failure in February 2002. He was discussed in a neurological CPC and the chief discussant arrived at a conclusion that the patient had paraneoplastic syndrome. Other diagnosis entertained included MERRF, GSS, Ramsay Hunt syndrome, subacute combined degeneration, spinocerebellar degeneration. Majority of the participants thought that paraneoplastic syndrome was most likely. Post-mortem examination revealed poorly differentiated carcinoma in the small intestine. Myeline pallor was noted in the posterior and the lateral columns in the thoracic spine. Neuronal cell loss was observed in the Purkinje cell and granular cell layer in the cerebellum. Sural nerve demonstrated loss of myelinated fibers and grouping of small fibers. Neuropathological findings were consistent with Friedreich ataxia; nevertheless, no mutation was reported in frataxin in Japan. The neuropathologist concluded that neuropathological diagnosis was a spinocerebellar ataxia with neuropathological similarities to Friedreich ataxia.
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PMID:[A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia]. 1614 16

Paraneoplastic cerebellar degeneration (PCD) is the most frequent paraneoplastic syndrome affecting the brain. Until now, anti-Tr associated PCD was only seen in patients with Hodgkin's disease. We report a male patient who presented with a progressive ataxia, affecting predominantly the lower limbs and a cerebellar dysarthria. Extensive diagnostic approach initially showed no evidence of tumor. The patient was found to have anti-Tr antibodies in his serum. Fourteen months after onset of symptoms a whole body PET-scan showed a pathological focus at the right hilus of the lungs. A mediastinoscopy was performed and peribronchial node sampling was done. The anatomopathological analysis revealed a non-well differentiated squamous cell carcinoma. This is the first report about the association between an anti-Tr associated PCD and squamous cell carcinoma.
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PMID:Probably anti-Tr associated paraneoplastic cerebellar degeneration as initial presentation of a squamous cell carcinoma of the lung. 1664 10

Opsoclonus-myoclonus ataxia syndrome is a paraneoplastic syndrome of cerebellar damage associated with neuroblastoma. The authors assessed psychiatric symptoms of opsoclonus-myoclonus ataxia syndrome in 17 children, who were 16 months to 12(1/2) years of age. Psychiatric symptoms examined included disruptive behavior, affective dysregulation, irritability, impulsivity, cognitive impairment, and poor attention.
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PMID:Mood and behavioral dysfunction with opsoclonus-myoclonus ataxia. 1672 Aug 3

Paraneoplastic syndromes are the rarest neurological complications in patients with breast cancer. Here, we present a case of occult breast cancer presenting as paraneoplastic sensory neuropathy. A 47-year-old woman developed progressive upper and lower extremity weaknesses with paresthesia and gait ataxia. Multiple cerebrospinal fluid (CSF) analyses and magnetic resonance image (MRI) scans of her brain and spine offered no diagnosis. Although no paraneoplastic antibodies were found, paraneoplastic neurological syndrome was suspected after examination by the neurologist eliminated other possibilities. Her mammogram demonstrated pleomorphic calcifications. Although local and systemic therapies were given, no significant improvement in the neurologic condition was found.
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PMID:A case report of paraneoplastic neurological syndrome associated with occult breast cancer. 1675 18

Paraneoplastic cerebellar degeneration (PCD) can present as a severe and (sub)acute cerebellar syndrome. PCD can accompany different kinds of neoplasms including small cell lung cancer, adenocarcinoma of the breast and ovary, and Hodgkin's lymphoma. A 34-year-old patient is described with acute dysarthria, gait ataxia and diplopia. Despite extensive laboratory and radiological evaluations in this patient with rapidly deteriorating cerebellar syndrome, the diagnosis of a paraneoplastic syndrome was only made after several months, when an anti-Tr antibody was detected in his serum. The search for Hodgkin's disease as concomitant disorder was then started and resulted in stage II B disease. The patient was successively treated with six courses of etoposide, bleomycin, vinblastine and dexamethasone and radiotherapy, which resulted in a complete remission of the Hodgkin's disease. After starting therapy the cerebellar degeneration stabilised. The pathogenesis of neuronal damage in central nervous system paraneoplastic disorders such as the one we describe is not completely understood. Antitumour therapy is assumed to be the important cornerstone in stabilising the neurological condition. Improvement of the cerebellar syndrome in anti-Tr autoantibody paraneoplastic disease is a rare achievement. Early recognition of the concomitant disorders (anti-Tr autoantibody disease and Hodgkin's lymphoma) is of crucial importance.
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PMID:Paraneoplastic cerebellar degeneration preceding the diagnosis of Hodgkin's lymphoma. 1692 86

In slowly progressive cerebellar atrophy, it has been difficult to suppress the progression of cerebellar symptoms because no effective therapeutic agents are available when the diagnosis of secondary cerebellar atrophy, such as drug-induced cerebellar atrophy or paraneoplastic syndrome, is denied. However, amongst the different forms of slowly progressive cerebellar atrophy, some may be associated with treatable immune abnormalities. Therefore, we investigated the therapeutic efficacy of intravenous immunoglobulin (IVIg) in 9 patients with slowly progressive cerebellar atrophy (4 sporadic atrophy; 5 hereditary atrophy). The results were as follows. With regard to the 4 cases of sporadic atrophy, gait ataxia and imbalance were markedly improved in 1 patient who had positive anti-GAD antibody. Moderate improvement was seen in 1 patient and slight improvement in 2. With regard to the 5 cases of hereditary atrophy, gait ataxia and imbalance were moderately improved in 2 patients with SCA3, although there were 3 non-responders. In conclusion, our study results suggested that not only patients with sporadic atrophy but also some with hereditary atrophy may respond to therapy. In cases of slowly progressive cerebellar atrophy in which the cause may be due to immune abnormality, we should consider instituting active immunotherapy when a pathological state caused by immune abnormality is suspected after extensive evaluations of autoantibodies, including anti-GAD, anti-thyroid and anti-gliadin antibody, malignancy, and so on.
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PMID:[Efficacy of intravenous immunoglobulin for slowly progressive cerebellar atrophy]. 1706 99

Opsoclonus-myoclonus-ataxia-syndrome (OMS) represents a rare neuroblastoma-associated paraneoplastic syndrome that commonly results in neurologic deficits despite tumor resection and immunosuppressive therapy. We describe the response of five such children to high-dose dexamethasone pulses including two patients in whom previous glucocorticoids, rituximab, and cytostatic drugs were not successful. All patients had MYCN non-amplified tumors that were detected 1 to 7 months after the onset of the OMS or ataxia. This treatment resulted in a good partial response in three and in complete remission in two patients. Our results show that dexamethasone pulses are likely to be useful for both, first-line- and salvage-therapy for OMS-patients.
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PMID:Treatment of neuroblastoma-related opsoclonus-myoclonus-ataxia syndrome with high-dose dexamethasone pulses. 1722 43

Opsoclonus-myoclonus syndrome (OMS) is a rare neurologic disorder comprising the main symptoms of eye-movement disturbances, muscle jerks, and severe ataxia. In children and adults, some cases are associated with a tumor as a paraneoplastic syndrome, whereas in children the paraneoplastic form is almost exclusively associated with neuroblastoma. The detection of autoantibodies in some OMS sera led to the hypothesis that the syndrome is of autoimmune origin. Beside autoantibodies against intracellular proteins, such as anti-Hu, alpha-enolase, and KHSRP, specific binding of autoantibodies to the surface of neuroblastoma cells and cerebellar granular neurons have been found. Antiproliferative and proapoptotic effects of these autoantibodies on neuroblastoma cell lines were noted as well. These results support the concept of a humoral autoimmune process in the pathogenesis of OMS.
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PMID:New autoantibodies in pediatric opsoclonus myoclonus syndrome. 1791 40

The treatment and disposition of patients with neurological disorders is commonplace in the emergency setting, but atypical and uncommon presentations can prove to be especially challenging. In this article we discuss the case of a 31-year-old woman who presented with a rare disorder known as opsoclonus myoclonus syndrome (OMS). OMS is characterized by involuntary, multidirectional movement of the eyes, myoclonus, and truncal ataxia. The etiology is thought to be autoimmune, and is most commonly associated with encephalitis or paraneoplastic syndrome. After an 8-day hospital course, which included several different treatment modalities including plasmapheresis, the patient was discharged after making a complete recovery. Unusual presentations such as the one described in this article illustrate the point that it is crucial to have a systematic approach that can be applied to identify and treat potentially life-threatening neurological conditions.
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PMID:Emergency department presentation of a rare neurological disorder. 1848 9


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