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

Among 85 neuropathy patients admitted and studied in the Department of Neurology, University of Occupational and Environmental Health, Japan, from 1979 to 1990, four patients suffering from sensory ataxia are reported with special reference to their etiological and pathological conditions. All of them were classified as having immune-mediated neuropathy. The first patient, a 56-year-old woman, was diagnosed as having chronic progressive ataxic sensory neuropathy. Her symptoms became progressively worse over a nine-year period after onset, but no evidence of cancer has been revealed. The positive rheumatoid factor was the only other feature noted. The second patient, a 63-year-old woman, after extensive laboratory studies, including the biopsy of the lymph node at the bifurcation of the bronchus in search of the cancer, was diagnosed as having subacute sensory neuropathy with small cell carcinoma of the lung. Chemotherapy was completed without subsequent obvious clinical benefits. The clinical diagnosis was confirmed on autopsy 29 months after the onset. The symptoms of the first patient were indistinguishable from those of the second patient, especially in the early clinical stage. In both patients, the proprioceptive sensations were severely affected and the disturbance of the proprioceptive sensations seemed to be almost parallel with the ataxia signs. The main site of the lesion seemed to be the neuron in the dorsal root ganglion in the first patient, as well as in the second patient who showed a marked loss of neurons in the dorsal root ganglion considered to be the primary lesion on autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Sensory ataxia in peripheral neuropathies--etiological and pathological analysis of four cases]. 132 18

Sural nerve biopsy was done 7 cases of cancer patients associated with peripheral neuropathy. There were 3 cases of lung carcinoma and one each of pancreas adenoma, seminoma, sigmoid carcinoma and chondrosarcoma of the femur. The neurological features manifested themselves with sensory pattern of neuropathy associated with ataxia in one case, sensorimotor neuropathy in 3 cases, and idiopathic polyneuropathy, peripheral neuropathy with proximal myopathy and neuropathy with paraneoplastic cerebellar syndrome each in one case, 6 patients showed neuropathy before malignancy was discovered and only one patient had neuropathy after the onset of carcinoma. Sural nerve biopsy studied in all the 7 patients with light and electron microscope revealed no infiltration of carcinomatous cells in the sural nerve fascicles. There was severe loss of myelinated fibers and severely axonal degeneration in one patient. Another patient showed segmental demyelination (5.03 x 10(3)/mm2). There was evidence of both axonal degeneration and demyelination associated with moderate reduction in the number of the myelinated fiber density ranging from 1.02 to 4.35 x 10(3)/mm2. In 6 cases, mononuclear cells were seen in nerve fascicles under the electron microscope. The characteristic pathological findings, their relation with the duration and onset of the cancer and some ideas regarding the pathogenesis are discussed.
 ...
PMID:[Carcinomatous neuropathy: clinical and pathologic findings of sural nerve biopsy in 7 cases]. 255 34

Four different antineuronal autoantibodies have been identified in 23 of 47 patients with paraneoplastic cerebellar degeneration (PCD). The most common, an antibody against 34- to 38-kDa and 62- to 64-kDa protein antigens in the cytoplasm of Purkinje cells, was found in 18 patients. It is a highly specific marker for a severe stereotypical subacute pancerebellar syndrome of truncal and appendicular ataxia, dysarthria, and nystagmus in women with cancer (usually ovarian or breast carcinoma). Different anti-Purkinje cell antibodies (APCA) were found in 2 other patients with PCD. With two possible exceptions, an APCA was not found in patients with other neurological diseases, with cancer not associated with neurological symptoms, or in normal subjects. Antibodies reactive with neuronal nucleoproteins were identified in 3 other patients with PCD: an antibody that recognized 35- to 40-kDa neuronal antigens was found in 2 women with small-cell lung carcinoma, while an antibody in a woman with breast carcinoma identified 53- to 61-kDa and 79- to 84-kDa antigens. Detection of an antineuronal antibody in a patient without known cancer should prompt a careful search for a tumor at a site appropriate to the antibody type.
 ...
PMID:Paraneoplastic cerebellar degeneration: clinical-immunological correlations. 323 56

Seventeen patients with computed tomographic (CT) evidence of a solitary cerebellar metastasis were studied. In 11 of 17 cases, neurologic symptoms preceded systemic evidence of carcinoma. Initial neurologic symptoms included gait instability (13 cases) and headache and vomiting (four cases). All patients had evidence of gait or limb ataxia on neurologic examination. Fourteen patients underwent craniotomy and subsequent irradiation, and three had radiotherapy without initial surgical biopsy. One patient with lung carcinoma had clinical and CT evidence of intracranial recurrence 14 months later but no evidence of widespread systemic carcinoma. Fifteen patients later showed evidence of systemic carcinoma but then died without subsequent development of recurrent cerebellar dysfunction or other neurologic abnormalities. Furthermore, in six of these patients with widespread systemic carcinoma, scans taken two to six months after completion of surgery and/or radiation therapy for the solitary metastasis showed no evidence of recurrent intracranial disease.
 ...
PMID:Solitary cerebellar metastases. Clinical and computed tomographic correlations. 398 9

One month before death, a 63-year-old man with known lung carcinoma manifested a left third-nerve palsy and crossed ataxia. The oculomotor involvement began with a dilated left pupil and progressed to a complete left oculomotor nerve palsy, with the exception of nearly normal lid function. Pathologic examination revealed a solitary midbrain metastasis involving the left third-nerve nucleus and rootlets, with the exception of the caudal central oculomotor subnucleus and its outflow fibers.
 ...
PMID:Levator-sparing oculomotor nerve palsy caused by a solitary midbrain metastasis. 669 28

Paraneoplastic cerebellar degeneration (PCD) is a rare manifestation of cancer, characterized clinically by subacute progressive ataxia, dysarthria and nystagmus. The pathological hallmark of PCD is a severe, diffuse loss of Purkinje cells. PCD occurs most frequently in association with small cell carcinoma of the lung and adenocarcinoma of the ovary, but it has also developed in patients with carcinoma of the breast, malignant lymphoma, and various cancers. Autoantibodies against cerebellar Purkinje cells have been frequently observed in the serum or cerebrospinal fluid (CSF) from patients with PCD. The cause of PCD is unknown, but the presence of these autoantibodies in some patients suggests that the pathogenesis may be immune mediated. The potential role of the autoantibody in the pathogenesis of PCD is discussed.
 ...
PMID:[Paraneoplastic cerebellar degeneration]. 799 1

The presence of specific antineuronal antibodies in some patients with paraneoplastic central nervous system (CNS) disorders supports the theory that these syndromes have an autoimmune etiology. The anti-Purkinje cell antibodies (APCAs) in some patients with paraneoplastic cerebellar degeneration and ovarian or breast carcinomas stain the cytoplasm of Purkinje cells. APCAs react with several distinct neuronal protein autoantigens, including proteins featuring a "leucine zipper" sequence motif, which suggests that they function in regulating DNA transcription. Type 1 anti-neuronal nuclear antibodies (ANNA-1) associated with paraneoplastic encephalomyelitis and small-cell lung carcinoma stain the nucleus and cytoplasm of all neurons, and react with a group of 35- to 40-kd proteins in neuronal immunoblots. The protein targets of ANNA-1 belong to a family of RNA-binding proteins that probably regulate posttranscriptional processing of RNA. Type 2 anti-neuronal nuclear antibodies (ANNA-2) associated with paraneoplastic opsoclonus-ataxia and breast carcinoma also produce a panneuronal immunocytochemical staining pattern, but react with a group of higher-molecular-mass proteins (53-61 kd and 79-84 kd); these autoantigens probably also function as RNA-binding proteins. Several patients with paraneoplastic stiff-man syndrome have antibodies against a 128-kd synaptic protein. These antineuronal antibodies are highly specific (but not infallible) diagnostic markers for the presence of a neoplasm in patients who present with neurological dysfunction. The actual role of these autoantibodies in the pathogenesis of neuronal damage and clinical disease remains to be determined. Current management options for patients with CNS neurological paraneoplastic syndromes are very limited. Only a small minority of patients with paraneoplastic cerebellar degeneration or encephalomyelitis show significant neurological improvement after successful tumor treatment and/or immunosuppressive treatments, while patients with paraneoplastic opsoclonus or stiff-man syndrome have a somewhat better outlook.
 ...
PMID:Autoimmune central nervous system paraneoplastic disorders: mechanisms, diagnosis, and therapeutic options. 896 21

A 59-year-old woman presented with acute-onset, bilateral, painless loss of vision, dysarthria, and ataxia. Ophthalmoscopy showed bilateral optic disc edema. A magnetic resonance scan of the head was normal. Chest radiography showed mediastinal adenopathy. Mediastinoscopy and biopsy identified small-cell carcinoma of the lung. An autoantibody to optic nerve and retina was demonstrated in the patient's serum. An electroretinogram was normal. The patient was diagnosed with a paraneoplastic optic neuropathy and paraneoplastic cerebellar syndrome. After treatment for her lung cancer, the patient remains stable from a visual and neurologic standpoint.
 ...
PMID:Paraneoplastic optic neuropathy and autoantibody production in small-cell carcinoma of the lung. 2110 28

Paraneoplastic cerebellar degeneration (PCD) is a clinical syndrome and known to be occasionally associated with small cell carcinoma of the lung (SCLC). PCD usually affects patients before the cancer is evident. The disorder evolves subacutely, and causes severe pancerebellar dysfunction. In this paper, we report a case of PCD associated with SCLC. A 65-year-old man presenting with 2 weeks of progressive vertigo, gait ataxia, and speech disturbance, was readmitted to our hospital. He had earlier been given a diagnosis of SCLC, oat cell carcinoma, and had undergone high-dose chemotherapy with peripheral blood stem cell transplantation during his first admission. Following that treatment regimen, the tumor disappeared completely and the patient had been in remission. Based on neurological findings and the presence of anti-neuronal antibodies a diagnosis of PCD was made. Although cyclophosphamide (500 mg/m2) was administered, the patient experienced no relief of his cerebellar ataxia. Six months afer readmission, he died of cardiac tamponade due to malignant pericarditis. A histological examination at autopsy found few Purkinje cells and a proliferation of Bergmann's astrocytes in the cerebellar cortex. These findings were consistent with the diagnosis of PCD.
 ...
PMID:[A case of paraneoplastic cerebellar degeneration associated with small cell lung cancer]. 1021 46

Stereotactic radiosurgery (SR) is being used with increasing frequency in the treatment of brain metastases. This study provides data from a clinical experience with radiosurgery in the treatment of cases with multiple metastases and identifies parameters that may be useful in the proper selection and therapy of these patients. From January 1993 to April 1997, 97 patients (43 women and 54 men; median age 58 years) suffering from multiple brain metastases (median 3; range 2-4) in MRI scans, received SR with the Gamma Knife. The median dose at the tumor margin was 20 Gy (range 17-30 Gy). Median tumor volume was 3900 cmm (range 100-10,000). Different forms of hemiparesis, focal and generalized seizures, cognitive deficit, headache, dizziness and ataxia had been the predominant neurological symptoms. Major histologies included lung carcinoma (44%), breast cancer (21%), renal cell carcinoma (10%), colorectal cancer (8%), and melanoma (7%). The median survival time was 6 months after SR. The actual one-year survival rate was 26%. In univariate and multivariate analysis, a higher Karnofsky performance rating and absence of extracranial metastases had a significantly positive effect on survival. Local tumor control was achieved in 94% of the patients. Complications included the onset of peritumoral edema (n = 5) and necrosis (n = 1). SR induces a significant tumor remission accompanied by neurological improvement and, therefore, provides the opportunity for prolonged high quality survival. We conclude that radiosurgical treatment of multiple brain metastases leads to an equivalent rate of survival when compared to the historic experience of patients treated with whole brain radiotherapy. Patients presenting initially with a higher Karnofsky performance rating and without extracranial metastases had a median survival time of nine months. Each such case should therefore be evaluated based on these factors to determine an optimal treatment regimen.
 ...
PMID:Prognostic factor analysis for multiple brain metastases after gamma knife radiosurgery: results in 97 patients. 1042 Oct 75


1 2 3 4 Next >>