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)

Diagnosis of respiratory chain defects in cultured skin fibroblasts is a difficult diagnostic procedure. We investigated the feasibility of using survival of skin fibroblasts in culture medium with galactose as the major carbon source as a method of quickly diagnosing cell lines that were compromised in oxidative metabolism. We found that cells from patients with most forms of cytochrome oxidase deficiency, cells with complex I deficiency, cells with multiple respiratory chain defects and cells with severe pyruvate dehydrogenase (PDH) complex deficiency failed to survive when subcultured into galactose (5 mM) medium. Cells from patients with Lebers hereditary optic neuropathy (LHON), Kearns-Sayre syndrome (KSS), myoclonus-epilepsy-lactic acidosis-stroke (MELAS), the hepatic form of cytochrome oxidase deficiency, and mild PDH complex deficiency survived well in galactose (5 mM)-containing medium. This could be used as a rapid screening test for skin fibroblasts with major oxidative defects.
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PMID:Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. 132 73

This paper describes the few case reports of neurological effects of acute (primary) HIV infection. Following a typical primary illness (fever, sore throat, headache, rash, lymphadenopathy, superficial oral ulcers, conjunctivitis, leukopenia and thrombocytopenia) aseptic meningitis, myelopathy, spinal myoclonus, peripheral or cranial neuropathy, neuralgia and ganglioneuronitis may occur, usually within 3 weeks. Encephalopathy with spontaneous recovery also occurs, usually without other features of acute HIV infection. Diagnosis depends on demonstration of seroconversion which may be delayed by weeks. No therapy is yet available.
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PMID:The neurological features of acute HIV infection. 304 55

A 55-year-old man is presented who developed severe multifocal myoclonus and tonic clonic seizures in his early thirties, and progressive limb weakness in his mid forties, when a ragged red fibre myopathy was diagnosed. He went on to develop a distal motor neuropathy and respiratory failure. Respiratory function tests indicated respiratory failure secondary to respiratory muscle weakness and a central hypoventilation syndrome. CT scan revealed brain stem atrophy and brain stem evoked responses were abnormal. A sural nerve biopsy showed severe axonal degeneration. Cytochrome difference spectra and polarographic studies on isolated intact muscle mitochondria were normal. This study reports the association of respiratory failure and sleep apnoea with Fukuhara's syndrome and presents biochemical data suggesting that the mitochondrial respiratory chain may be intact in some patients with this syndrome.
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PMID:Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. A case report with biochemical studies. 393 3

A 50-year-old Japanese woman with action myoclonus, cerebellar signs, neuropathy with axonal degeneration and onion-bulb formation, muscle atrophy with mitochondrial abnormalities, and isolated ACTH deficiency was reported. Her daughter had myoclonus epilepsy and cerebellar ataxia. Neuropathologic findings included atrophy of the dentate and inferior olivary nuclei, Purkinje's cell loss, and demyelination of the posterior columns and spinocerebellar and pyramidal tracts of the spinal cord, besides severe respirator changes. Lafora's bodies were absent. The present case should be included in the entity "myoclonus epilepsy associated with mitochondrial myopathy."
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PMID:Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. 631 Apr 38

We reported anesthetic as well as perioperative management for a patient with Creutzfeldt-Jakob disease, a very rare transmissible neuropathy. A 51 year-old woman was scheduled for extirpation of recurrence of acoustic neurinoma. Three months before the operation, she had complained vertigo. After admission to our hospital, she had become progressively dementiated and developed disturbed consciousness. Anesthesia was induced with thiamylal and maintained with 0.7-1.5% isoflurane, nitrous oxide and oxygen. The anesthetic course was uneventful and the recovery from anesthesia was smooth. Postoperatively dementia progressed and myoclonus of extremeties appeared sixth weeks after the operation. Two months after the operation, a diagnosis of Creutzfeldt-Jakob disease was established by characteristic EEG and clinical course. Anesthesia for a patient with dementia was discussed.
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PMID:[Anesthesia for a patient with Creutzfeldt-Jakob disease]. 777 22

In the last decade, anti-neurons autoantibodies have been found in serum and cerebro spinal fluid of patients suffering from neurological paraneoplastic syndrome. This discovery has made possible to improve the knowledge of these syndromes as well as to characterize some proteins specific to the nervous system, unknown until now. Paraneoplastic encephalomyelitis can manifest together with an ataxic sensitive neuropathy, a limbic encephalitis, a brainstem or cerebellum syndrome. This encephalomyelitis is almost always associated with a small cells lung cancer and auto-antibodies, called anti-Hu, which recognize all the neurons of the nervous system. Patients with paraneoplastic cerebellar degeneration present an antibody, called anti-Yo, directed against Purkinje cells. In this case, the tumor is a gynecologic cancer. Patients presenting with an opso-myoclonus and a breast cancer have an antineurons anti-body, called anti-Ri, which is absent when the opso-myoclonus is associated with a lung cancer or a neuroblastoma. These three antibodies are the most frequently found and the best studied, but others, rarer, have been described. The genes coding for the proteins recognized by these three antibodies have been cloned. These proteins seem to play a major role in the neuronal maturation and homeostasis. These antibodies prove to be irreplaceable tools to study the phenomenons subtending the neuronal degeneration and the cellular proliferation.
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PMID:[Value of the detection of anti-nervous system autoantibodies in neurologic paraneoplastic syndromes]. 805 19

Six months after the onset of visual loss a 23-year-old male patient with Leber's optic neuropathy associated with a mitochondrial DNA mutation developed brain stem involvement with Parinaud's syndrome and oculopalatal myoclonus. Magnetic resonance imaging (MRI) revealed a high signal area in the brain stem, corresponding to a hypodense area in the CT scan that did not show contrast enhancement. Distinct diminution but not complete remission of the MRI findings was found in the 5-year follow-up, which was not accompanied by clinical improvement. Although the MRI findings were compatible with a demyelinating lesion, neither extensive evoked potential studies nor spinal fluid examination supported this.
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PMID:Central nervous system involvement in Leber's optic neuropathy. 849 15

This 44-year woman was admitted for weight loss and global intellectual slowing. She had mild chronic alcoholic neuropathy. She was discontinued alcoholic consumption for 6 months and was given disulfiram (1.5 g/day) since then. She developed over a 5-day period acute neuropathy, confusion and extrapyramidal symptoms with oculo-cephalogyric and dystonic movements and myoclonus. Electromyography revealed a severe polyneuropathy. After disulfiram withdrawal, confusion and extrapyramidal symptoms disappeared within a few days, but sensitivo-motor deficit improved more slowly. Nerve biopsy was suggestive of a pure axonal neuropathy.
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PMID:[Acute and reversible myoclonic encephalopathy, extrapyramidal syndrome, polyneuropathy caused by chronic disulfiram poisoning]. 874 31

A fourteen-month-old girl, who had shown remittent fever frequently from the neonatal period, hypohidrosis, frequent change of face color and self-mutilation of the 1st and 2nd fingers of both hands and tongue in the first months of her life, developed an acute encephalopathy with generalized tonic convulsion outdoors on a sunny hot day. Generalized tonic convulsion subsided within two days, but doll's eye phenomenon, loss of pupillary reaction to light, palpebral myoclonus, and ballismus of arms and legs followed L-dopa showed some effect on the ballismus 1 month after the attack. During the hospital stay, biopsy of sural nerve was performed. Morphometric and ultrastructural studies of the sural nerve demonstrated decreased numbers of unmyelinated and small myelinated fibers. Skin biopsy of the leg revealed sweat glands with no nerve terminals, axons and Schwann cells around them. She was diagnosed as having hereditary sensory and autonomic neuropathy type IV based on the histological and clinical findings. After discharge, bone fracture was found three times without any evidence of trauma. Acute encephalopathy, probably produced in relation to the underlying neuropathy, was considered to be due to heat stroke.
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PMID:[A case of hereditary sensory and autonomic neuropathy type IV diagnosed following the development of acute encephalopathy due to heat stroke]. 914 33

Type 1 antineuronal nuclear autoantibody (ANNA-1, also known as "anti-Hu") is a marker of neurologic autoimmunity that is highly associated with small-cell lung carcinoma (SCLC). To determine the spectrum of symptoms and signs as well as the frequency of cancer in adult patients who are seropositive for ANNA-1, we reviewed 162 sequential patients (67% female) identified as ANNA-1-positive in a comprehensive immunofluorescence screening test. In 21% of these patients, the antibody test requested by the physician was not ANNA-1. By the end of the follow-up period, cancer had been found in 142 patients (88%). Ten of these lacked evidence of SCLC (4 had prostate carcinoma, 3 breast carcinoma, 1 both prostate carcinoma and melanoma, 1 lymphoma, and 1 squamous-cell lung carcinoma). Of the 132 patients (81%) with proven SCLC, 17 had one or more coexisting malignant neoplasms (6 had renal carcinoma, 4 another lung primary carcinoma, 3 prostate carcinoma, 3 breast carcinoma, and 4 assorted neoplasms). The diagnosis of SCLC in 128 patients (97%) followed the onset of paraneoplastic symptoms. SCLC was identified in 10 patients by chest MRI after an equivocal chest radiograph or CT; in 28 by bronchoscopy, mediastinoscopy, or thoracotomy; and in 7 at autopsy. Neurologic signs in decreasing frequency were neuropathy (sensory > mixed somatic > autonomic > cranial [especially cranial nerve VIII] > motor), cerebellar ataxia, limbic encephalitis, polyradiculopathy, associated Lambert-Eaton myasthenic syndrome, myopathy, myelopathy, opsoclonus/myoclonus, motor neuronopathy, brachial plexopathy, and aphasia. Nineteen patients had a solely gastrointestinal initial presentation, including gastroparesis, pseudo-obstruction, esophageal achalasia, or other dysmotility. We conclude that seropositivity for ANNA-1 can expedite the diagnosis and treatment of otherwise occult cancer in patients, especially tobacco abusers, with varied neurologic and gastroenterologic presentations. The search for SCLC should not end on discovering a different neoplasm.
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PMID:Paraneoplastic and oncologic profiles of patients seropositive for type 1 antineuronal nuclear autoantibodies. 952 Dec 51


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