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)

A 70-year-old woman was admitted to our hospital because of rapidly progressive cerebellar ataxia. Neurological examinations showed saccadic eye movement, downbeat nystagmus, scanning speech, proximal dominant muscle weakness and severe truncal and limb ataxia. Based on these clinical features, she was suspected to have paraneoplastic cerebellar degeneration (PCD), although the malignant tumor was not detected through clinical intensive surveys. Her serum and CSF revealed to have anti-Purkinje cell antibodies immunohistochemically, and western blot analysis showed that they reacted with 58 kd band. In view of previous reports of PCD, she was strongly suspected to have gynecological cancers. The trial laparotomy found early stage fallopian tubal cancer, which had not been detected by CT scan, ultrasonogram and MRI. It is important to detect and characterize these autoantibodies found in the PCD patients for early diagnosis and treatment of underlying cancer.
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PMID:[A case of paraneoplastic cerebellar degeneration--success in early detection of cancer by anti-Purkinje cell antibody]. 162 54

We report a case of chronic demyelinating polyneuropathy accompanying benign IgM monoclonal gammopathy treated with plasmapheresis, which brought the improvement of the neurological signs and conduction velocities of peripheral nerves. A 60-year-old man developed numbness in the hands and legs and unstable gait. These symptoms became worse slowly. Three years after the onset, he was admitted to Matsuyama Red Cross Hospital because mild clumsiness in the hands was added. The neurological examinations revealed marked loss of both superficial and deep sensations of the glove-stocking type, mild weakness of distal muscles and hyporeflexia in the upper and lower extremities, and mild sensory ataxia. On the laboratory examinations, the serum showed a marked increase of IgM with a monoclonal IgM of lambda light chain. The cytological examination of the bone marrow showed no evidence of malignancy. Marked decrease of nerve conduction velocities was noted in the electrophysiological examinations of the peripheral nerves. Segmental demyelination and widely spaced major dense lines of myelin were observed in the histological examinations of the sural nerve. The immunological examination revealed the antibody activity of IgM against myelin-associated glycoprotein in the patient's serum. He was treated with double-filtration plasmapheresis of 2 liters once a week for 3 months as inpatient. During this treatment, the concentration of IgM in the serum was kept to be much lower than before the treatment, and the sensory disturbances, grasping powers and nerve conduction velocities were mildly improved at the end of the treatment. After discharge, he was treated with monthly plasmapheresis of 2 liters for 3 months.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of chronic demyelinating polyneuropathy with benign IgM anti-myelin-associated glycoprotein paraproteinenia--transient improvement with weekly plasmapheresis]. 171 May 53

Molecular epidemiology may help fill the gap between epidemiological and biological models for cancerogenesis, allowing useful comparisons between series of cases carrying different biological characteristics. The defective regulation of immune responses is probably the common basis of cancer origin in genetically determined immune deficiency (GDID). Lymphomas are the most common neoplasms, showing an extremely high incidence in early age, frequent unusual location (extra-nodal) and histology, and rapid progression and spread with little response to therapy. A high incidence of lymphoma is also found in acquired (AIDS) or iatrogenic (transplant recipients) immune defective patients. The emergence of a malignant clone may be linked to unregulated polyclonal B- or T-cell proliferation and to disturbances in chromosomal rearrangements and in clonal selection, which are unique features of the immune cells regulation. It is useful to compare patterns of malignancies observed in GDIDs and in chromosomal breakage syndromes (CBS). In ataxia-teleangectasia (AT), selective errors at sites of special recombination involved in immune cell rearrangements may account for both immune deficiency and frequent types of malignant transformation. Different cytogenetic alterations and different types of malignancies are more common in Bloom syndrome, and in other GDIDs unrelated to chromosomal fragility, possibly due to different regulatory impairments. Viral infection (EBV, HPV, CMV) is likely to be a factor in any of the above steps. Therefore, individual exposure to viral (or other environmental) agents may be related to frequent location (skin, ano-genital areas, digestive tracts) of nonlymphatic cancers both in some GDIDs and in acquired or iatrogenic immune deficiencies. Cells that are homozygous for GDID are not malignant themselves, but are more likely to undergo new mutations to malignancy, due both to disregulation of the immune system and to environmental agents.
Cancer Detect Prev 1991
PMID:Molecular epidemiology of cancer in immune deficiency. 203 52

The serum and cerebrospinal fluid (CSF) of 8 women with ataxia, 6 of whom also had eye movement abnormalities believed to be opsoclonus, were found to contain a highly specific antineuronal antibody we call anti-Ri. Seven of the 8 women also had or developed cancer: carcinoma of the breast in 5, adenocarcinoma in an axillary lymph node in 1, and carcinoma of the fallopian tube in 1. Four patients presented with the neurological disorder; the cancer was diagnosed first in the other 4. Immunohistochemical studies using serum or CSF from all 8 patients revealed a highly specific antibody interaction with central nervous system neuronal nuclei but not with glial or other cells; the titer ranged from 1:5,000 to 1:320,000 in serum and from 1:2,000 to 1:16,000 in CSF. Biotinylated IgG from the patients' serum reacted with the tumors of 3 of 4 patients with anti-Ri antibody but not with breast cancers from patients without anti-Ri antibody. Immunoblots against cerebral cortex neuronal extracts identified protein antigens of 55-kd and 80-kd relative molecular mass. Serum titers by immunoblot ranged from 1:500 to more than 1:40,000 and CSF titers, from 1:10 to 1:2,000. The relative amount of anti-Ri was always higher in CSF than in serum. The antibody was not present in sera from normal individuals; patients with breast cancer without opsoclonus; other patients with opsoclonus; or patients with other paraneoplastic syndromes related to breast, ovarian, or small-cell lung cancer. We conclude that the presence of anti-Ri antibody identifies a subset of patients with paraneoplastic ataxia and eye movement disorders (opsoclonus) who usually suffer from breast or other gynecological cancer; the antibody when present is a useful marker for an underlying malignancy.
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PMID:Anti-Ri: an antibody associated with paraneoplastic opsoclonus and breast cancer. 204 40

Spinal cord lesions, although far less frequent than brain lesions, are not uncommon in AIDS. Almost all diffuse or multifocal pathological processes involving the central nervous system and/or leptomeninges may also affect the spinal cord. However, some of them involve it predominantly causing specific, clinically overt, myelopathic diseases. The most characteristic of these is vacuolar myelopathy which usually manifests as progressive spastic ataxia. Its incidence varies in different pathological series and its pathogenesis is still controversial. Acute meningomyeloradiculitis in AIDS patients presents a remarkably uniform and distinct clinical and cerebrospinal fluid profile although they might be due to various causes including cytomegalovirus infection, syphilis, mycobacterial infection or leptomeningeal malignancy. Tumoral focal syndromes have exceptionally been recorded due to epidural lymphomas, intraspinal gliomas or toxoplasma abscesses. Spinal cord ischemic lesions have been documented in two cases: they were related to inflammatory lesions of the blood vessels in one case and to diffuse intravascular coagulation in the other. An ascending myelitis syndrome, secondary to spinal cord infection by both herpes simplex virus type 2 and cytomegalovirus, without significant vasculitis has also been reported.
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PMID:[Lesions of the spinal cord and spinal roots in human immunodeficiency virus infection]. 207 14

Peripheral nerve disorders are a common problem in cancer patients. Clinical severity may range from mild acroparesthesia to ataxia so severe it makes patients bed-bound to muscle wasting so extensive it compromises respiratory function. Treatment-related neuropathies add to the patient's suffering and may even be a dose-limiting factor. While symptoms of neuropathic disease may be diverse, certain general patterns can be recognized. The author discusses clinical features and the latest methods of evaluation, including single fiber electromyography.
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PMID:Peripheral neuropathy in cancer patients: incidence, features, and pathophysiology. 216 99

Two patients of ataxic sensory neuropathy associated with silicosis were studied. Case 1 is a 53-year-old (in 1979) man who was a stonecutter for 40 years and diagnosed as silicosis in 1973. Case 2 is a 64-year-old (in 1984) man who was a glasscutter for 30 years and had been treated for silicosis from 1980 to 1982. Both patients developed dysesthesias in the hands, feet and face asymmetrically and gait ataxia over a few months. Vibratory and joint position senses were profoundly diminished but were accompanied by only mildly decreased pain and temperature sensations. Their muscle power was almost unchanged. Both had absent muscle power was almost unchanged. Both had absent muscle stretch reflexes. Sensory nerve conduction velocities were absent and motor nerve studies were almost normal. Nerve biopsy in case 2 showed a severe loss of large myelinaed fibers, and no inflammatory infiltrates and onion bulb formations. Although these findings suggested the carcinomatous neuropathy, we could not find any malignancy. Both patients had elevated polyclonal gamma-globulin levels and rheumatoid factors and, in case 2 an increase of IgG in serum. Cerebrospinal fluid showed an albumino-cytogenic dissociation and steroid therapy was successful in both patients. Case 1 died of pneumonia in 1989. Though an autopsy was not performed, his condition had continued to improve without signs of malignancy during 10 years. The condition of case 2 has also continued to improve, although ataxias remain.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Two cases of ataxic sensory neuropathy associated with silicosis]. 217 42

Two siblings in a family--a 5-year-old boy and an 8-year-old girl--suffered from progressive headache and gait disturbance in an interval of 1 year, consecutively. Neurologic manifestations were papilledema and truncal ataxia. Both of their computed tomography scans showed a large, well-enhanced tumor located in the cerebellar vermis with secondary hydrocephalus. Both had surgical resection followed by craniospinal irradiation and then chemotherapy. The pathologic findings confirmed the diagnosis of medulloblastomas. The family pedigree disclosed some other cancer in close relatives. These findings suggested a possible role of heredity in the oncogenesis of this tumor. To our knowledge, our cases are the seventh report of familial medulloblastoma occurring in nontwin siblings in the world.
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PMID:Familial medulloblastoma in siblings: report in one family and review of the literature. 218 31

Acute cerebellar toxicity with ataxia and dysarthria is a well-known side effect during high-dose cytarabine therapy. Dose, age, previous neurological disorders, hepatic dysfunction, and renal insufficiency have been inconsistently reported as risk factors. The present paper presents a patient with renal insufficiency who developed severe cerebellar toxicity following treatment with a dose of cytarabine (8 g/m2 over 5 days) not generally expected to be associated with neurotoxicity. Together with a review of the literature, the present case gives evidence of renal insufficiency as a major risk factor in the development of cerebellar toxicity during cytarabine therapy. Reduced doses of cytarabine should be considered in patients with renal impairment.
Cancer Chemother Pharmacol 1990
PMID:Cerebellar toxicity during cytarabine therapy associated with renal insufficiency. 224 95

The ongoing evaluation of combination chemotherapy with 5-fluorouracil (5-FU) and cisplatin in several tumors prompted a phase I clinical trial of cisplatin with 5-FU modulated by leucovorin. A total of 26 patients were treated with varying doses of 5-FU by continuous i.v. infusion for 5 days; 200 mg/m2 leucovorin was given by daily bolus injection for 5 days; and 20 mg/m2 cisplatin was infused over 2 h on each day of treatment. Courses were repeated every 21-28 days. The starting dose of 5-FU was 300 mg/m2. Poor-risk patients (extensive prior radiation, performance status of 2 or worse) did not tolerate the initial dose; the maximum tolerated dose of 5-FU in this group was 200 mg/m2 daily. Good-risk patients tolerated 300 mg/m2, but a majority had excessive toxicity at higher doses. The dose-limiting toxicity was gastrointestinal (mucositis/diarrhea) and/or myelosuppression; additional side effects included were nausea and vomiting (less than or equal to grade 2) and ataxia (one patient). Among 13 patients with colorectal cancer, 4 partial responses were observed. The marked reduction in the tolerable dose of 5-FU occasioned by the addition of modulating doses of leucovorin is noteworthy. The responses observed support further investigation of this regimen in phase II trials.
Cancer Chemother Pharmacol 1990
PMID:Phase I trial of 5-fluorouracil, leucovorin, and cisplatin in combination. 224 28


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