Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Despite circumstantial evidence that opsoclonus-myoclonus (OM) is often immune mediated, no specific autoantigen has been identified. Using sera of 21 patients with several types of OM (idiopathic, associated to small cell lung cancer, and associated to neuroblastoma), we probed a brainstem cDNA library to isolate target neuronal antigens. Thirty-seven clones coding for 25 proteins were isolated, with two groups of autoantigens emerging: (1) proteins of the postsynaptic density, among them the adenomatous polyposis coli, and 2) proteins with expression or function restricted to neurons, including RNA or DNA-binding proteins and zinc-finger proteins. Usually, each patient's serum recognized a different autoantigen, except for adenomatous polyposis coli that was recognized by sera of two patients with idiopathic OM and two control patients with nystagmus, diplopia, and paraneoplastic brainstem dysfunction. Overall, in the indicated types of OM, (1) we found frequent and heterogeneous immunity to neuronal autoantigens without a single specific antibody marker of OM, (2) the occasional detection of antibodies to known onconeuronal antigens (ie, Hu proteins) probably is related to cancer-induced immunity rather than to OM, and (3) the postsynaptic density is a frequent source of novel autoantigens, with several proteins of this complex targeted by antibodies of OM patients.
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PMID:Autoantigen diversity in the opsoclonus-myoclonus syndrome. 1260 2

We identified the IgG autoantibody ANNA-2 ("anti-Ri") in 34 patients in a 12-year period by immunofluorescence screening of sera from approximately 75000 patients with subacute neurological disorders that were suspected to be paraneoplastic. Detailed clinical information was available for 28 patients (10 men, 18 women). Cancer was diagnosed in 24 patients (86%); 21 had histologically proven carcinoma (10 lung, 9 breast, 1 cervical, 1 bladder), and 3 had an intrathoracic imaging abnormality. Cancer anteceded neurological symptoms in 4 of 28 patients. Cancer detection frequency increased with continued surveillance. Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, encephalopathy, Lambert-Eaton syndrome, and seizures. Four patients had laryngospasm and four had jaw opening dystonia (two with neck dystonia). Nine (32%) were wheelchair-bound 1 month after neurological symptom onset. Most improved neurologically after immunomodulatory or tumor-directed therapy. Accompanying autoantibodies, found in 73% of sera, included ANNA-1, ANNA-3, CRMP-5-IgG, P/Q-type and N-type Ca(2+) channel antibodies, and muscle-type acetylcholine receptor antibody. Some neurological accompaniments of ANNA-2 may reflect potentially pathogenic humoral or cell-mediated responses to coimmunogenic tumor antigens, for example, Lambert-Eaton syndrome (P/Q-type Ca(2+) channel antibody) and peripheral neuropathy (ANNA-1 effector T cells).
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PMID:Anti-neuronal nuclear autoantibody type 2: paraneoplastic accompaniments. 1273 Sep 91

Atonic seizures are part of some childhood epilepsy syndromes and can also result from acquired central nervous system insult. Of 93 survivors of childhood cancer with uncontrolled seizures, 10 (11%) with atonic seizures form the basis for this report. Seven survived acute leukemia, and three survived brain tumors. The median age at cancer diagnosis was 9 months (range 2-52). Nine received systemic and six intrathecal chemotherapy; cranial irradiation was given to seven. All have learning difficulties, abnormal brain magnetic resonance images, and an abnormal electroencephalogram; six are developmentally delayed. All have difficult-to-control seizures, but six improved on myoclonus-specific drugs accelerated development in two younger patients. Atonic seizures in cancer survivors are associated with difficult-to-control seizures and pervasive cognitive impairments. Young age at cancer diagnosis and cranial irradiation may predispose the patient to development of this syndrome. Recognition and appropriate treatment of atonic seizures in cancer survivors could improve seizure control, neurologic development, and quality of life.
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PMID:Atonic seizures in survivors of childhood cancer. 1288 74

Paraneoplastic syndromes are the rarest neurological complications in patients with cancer. The neurological paraneoplastic syndromes that are mainly associated with breast cancer are subacute cerebellar degeneration, paraneoplastic retinopathy, opsoclonus-myoclonus syndrome, lower motor neuron diseases and Stiff-man syndrome. The aim of this paper is to briefly outline these paraneoplastic neurological syndromes and consider their relation to breast carcinoma.
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PMID:Paraneoplastic neurological disorders in breast cancer. 1465 27

Opsoclonus-myoclonus syndrome was observed in a patient treated for small-cell lung cancer. Opsoclonus presented as anarchic involuntary eye movements associated with myoclonies of the limbs and trunk. Opsoclonus-myoclonus is exceptional and a specific expression among several paraneoplastic manifestations described in small-cell lung cancer. These manifestations develop late after diagnosis of cancer. Presence of anti-neuronal antibodies in the serum (inconstant) is a factor of very poor prognosis.
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PMID:[Paraneoplastic opsoclonus-myoclonus syndrome associated with small-cell lung cancer]. 1470 30

This report describes a case of large-cell lung carcinoma with neuroendocrine features, presenting with the full clinical picture of paraneoplastic opsoclonus-myoclonus syndrome. The patient had an unexpectedly dramatic resolution of the neurologic dysfunction after receiving antineoplastic treatment. Symptom improvement paralleled a progressive decline of serum ANNA-2 antibody titers to undetectable levels.
Cancer Invest 2004
PMID:ANNA-2: an antibody associated with paraneoplastic opsoclonus in a patient with large-cell carcinoma of the lung with neuroendocrine features--correlation of clinical improvement with tumor response. 1519 8

Progressive encephalomyelitis with rigidity and myoclonus (PEWR) is a rare neurological disorder, characterised by muscular rigidity, painful spasms, myoclonus, and evidence of brain stem and spinal cord involvement. A 73-year-old white man was admitted with a 10-day history of painful muscle spasms and continuous muscle rigidity on his left lower limb. He had involuntary spasms on his legs and developed encephalopathy with cranial nerves signs and long tract spinal cord symptomatology. Brain CT scan and spinal MRI were normal. The CSF showed lymphocytic pleocytosis and no other abnormalities. EMG showed involuntary muscle activity with 2-6 seconds of duration, interval of 30-50 ms and a frequency of 2/second in the left lower limb. Anti-GAD antibodies were detected in the blood. We detected radiological signs of lung cancer during the follow-up, which proved to be an oat cell carcinoma. The patient died two weeks after the diagnosis of the cancer.
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PMID:Progressive encephalomyelitis with rigidity: a paraneoplastic presentation of oat cell carcinoma of the lung. Case report. 1527 62

BACKGROUND: The IgG autoantibody ANNA-2 (anti-Ri) is a type 2 antineuronal antibody that has been found to bind to highly conserved and widely distributed adult brain proteins encoded by the Nova-1 and Nova-2 genes. Anti-Ri antibodies are typically detected in the serum and cerebrospinal fluids of patients with neurological disorders such as opsoclonus/myoclonus and cerebellar ataxia and in association with gynecologic and breast malignancies. CASE PRESENTATION: This report describes an unusual example of a 33-year-old female patient who developed short-term memory deficits over a 3-month period. An extensive neurological work-up, including a panel of paraneoplastic markers was negative with the exception of a high titer serum Anti-Ri (1:15,3600). A large left ovarian mass was palpated, surgically resected and eventually diagnosed as a mature cystic teratoma. Post-operatively, memory deficits had disappeared within 1 month and serum Anti-Ri titers had decreased significantly to 1:256. An extensive diagnostic work-up for other malignancies was negative. CONCLUSION: Although, Anti-Ri antibodies are typically associated with malignancies, this case illustrates the potential association between benign tumors and this autoantibody.
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PMID:Anti-Ri antibodies associated with short-term memory deficits and a mature cystic teratoma of the ovary. 1553 31

The opsoclonus-myoclonus syndrome (OMS) was diagnosed in nine patients, two men and seven women, varying in age from 34 to 65 years. In two cases the findings indicated a post-infectious form, in three cases there was a malignancy, in one case there was a connection with the use of medication and in three cases the cause was unknown. OMS is a rare neurological disorder with symptoms of rapid, involuntary saccadic eye movements (opsoclonus) and sudden involuntary muscle contractions (myoclonus). It has been associated with infections, malignancies, intoxications and metabolic disorders. In 50% of the cases no cause can be identified. There is evidence for dysfunction ofbrainstem and cerebellar pathways and in many cases an (auto-)immune process is implied. Once the diagnosis has been established, screening for occult malignancy is indicated. The prognosis of idiopathic and post-infectious OMS is generally good and the treatment is mainly supportive.
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PMID:[The opsoclonus-myoclonus syndrome]. 1570 40

A 69 year-old man developed sudden-onset multidirectional, constant, involuntary ocular movements associated with vertigo, truncal ataxia and involuntary movements of the lower limbs. These features were typical of opsoclonus-myoclonus-ataxia syndrome (OMS). MRI of the brain was normal. CSF studies showed a single oligoclonal IgG band. A chest x-ray showed a 2-centimeter lesion in the periphery of the left lung. Fine needle aspiration biopsy of this lesion revealed large B-cell lymphoma. OMS can be either idiopathic or a paraneoplastic manifestation of underlying malignancy. 20 of OMS cases are paraneoplastic in origin; breast and lung cancer are responsible for 70 of these. Association of this syndrome with non-Hodgkins lymphoma is rare, with only one case previously reported.
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PMID:Paraneoplastic Opsoclonus-Myoclonus Syndrome: initial presentation of non-Hodgkins lymphoma. 1593 16


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