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)

Subacute sclerosing panencephalitis is an almost universally fatal late complication of measles infection for which there is no established treatment. We report a patient with subacute sclerosing panencephalitis who was bed-bound and ataxic and had a left hemiparesis and frequent myoclonus. He was started on a new regimen consisting of intraventricular interferon-alpha (starting at 100,000 U/m2/day, building up to 1 million U/m2/day), ribavirin (60 mg/kg/day intravenously), and inosiplex (3 g/day) and improved markedly. At 10 weeks, the intraventricular reservoir was removed because of bacterial infection, and he was discharged home on oral ribavirin (1200 mg/kg/day) and inosiplex. He continued to improve as judged by neurologic examination, functional independence measurement, neuropsychometry and single photon emission computed tomography (SPECT) imaging. However, after 10 months, he deteriorated suddenly and died before further intraventricular treatment could be instituted. Further trials are needed to evaluate long-term combination therapy in subacute sclerosing panencephalitis.
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PMID:Treatment of subacute sclerosing panencephalitis with interferon-alpha, ribavirin, and inosiplex. 1250 50

We report a 66-year-old woman with Hashimoto's encephalopathy who showed rapidly developing cognitive deficits, inactivity, and gait disturbance without involuntary movements or convulsions. She had had right-sided hemiparesis and dysarthria caused by a lacunar infarction and had been admitted to our hospital for 2 weeks. Although the dysarthria and hemiparesis gradually improved, difficulty in walking, disorientation, and drowsiness developed 2 months after discharge. Upon readmission, the patient was alert but apathetic and sometimes sleepy. The right upper and lower limbs showed mild weakness, which was considered to be due to the previous infarction. Cerebrospinal fluid showed mild elevation of protein without pleocytosis. An electroencephalogram was normal, and a magnetic resonance imaging of the brain showed only the old lacunar infarction. Titers of antithyroglobulin antibodies and levels of thyroid stimulating hormone in serum were elevated. We made a diagnosis of Hashimoto's encephalopathy and treated the patient with high-dose corticosteroids. Within 1 week, her mental status improved and she was able to walk. Generalized seizure, myoclonus, and tremor, which are characteristic of Hashimoto's encephalopathy, never developed. The findings in this patient suggest that Hashimoto's encephalopathy, a treatable condition, should be included in the differential diagnosis of dementia.
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PMID:[A patient with Hashimoto's encephalopathy showing subacute global cognitive dysfunction]. 1450 57

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.
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PMID:Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. 1503 Sep 2

Patients with Rasmussen encephalitis (RE) may develop a variety of involuntary movements. We report a 26-year-old woman who presented with a 3-year history of progressive, continuous myoclonus of the left side of the face and left arm as well as left spastic hemiparesis. Magnetic resonance imaging of the brain showed right hemisphere and basal ganglia atrophy, and 24-hour electroencephalogram demonstrated diffuse slowing with random sharp waves in both hemispheres. An 18-fluoro-deoxy-glucose positron emission tomography scan indicated hypometabolism of the right cerebral hemisphere, including basal ganglia and thalamus. We successfully treated her myoclonus with injections of botulinum toxin A into the left zygomaticus muscle.
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PMID:Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. 1675 85

An efficacy of high dosages of piracetam in the treatment of children with Kozhevnikov epilepsy syndrome (epilepsia partialis continua) has been studied. The study included 6 patients, aged from 9 to 16 years, with diagnosis of Kozhevnikov epilepsy (KE) who received piracetam (nootropil, UCB) in mean dose of 1g/kg/day (up to 35 g/day) intravenous in drops. The treatment course was 30 days. During therapy, there was decrease of myoclonus frequency by 75% in 3 patients and its full stopping in 3 patients. Focal clonic seizures were stopped in 2 cases, their frequency decreased in 4 cases. Secondary generalized seizures did not relapse in 2 cases and there was a decrease of seizures by 50% and over in 4 remained cases. The use of nootropil led to the improvement of neurological status in 5 out of 6 patients with KE. The intensity of hemiparesis was reduced in 3 patients treated with nootropil. The improvement of cognitive functioning was observed in 5 out of 6 patients. The duration of clinical improvement was 1-2 months after infusions cessation. The study revealed the efficacy of high dosages of nootropil in combination with basic antiepileptic drugs in the treatment of Kozhevnikov epilepsy.
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PMID:[A use of high dosages of piracetam in the treatment of Kozhevnikov epilepsy syndrome]. 1837 10

Subacute sclerosing panencephalitis (SSPE), a post-measles progressive neurological disorder is still common in India because of indifferent vaccination compliance. However, the acute fulminant form of SSPE is extremely rare. An unusual case of fulminant SSPE in an 18-year-old man from south India with an ultra-short course of 19 days presenting with hemiparesis in absence of myoclonus and progressive cognitive decline, is reported. MRI showed frontal and parieto-occipital demyelination extending to nuclear areas. Antimeasles antibodies were demonstrable in CSF and serum with oligoclonal bands in CSF despite normal CSF protein and cell count. At autopsy, unlike classical SSPE, oligodendroglia containing measles viral antigen was sparse despite florid necrotizing leukoencephalitis with acute demyelination. Measles virus was isolated from the brain with hypermutation in M gene confirming the diagnosis. Phylogenetic analysis of the viral genotype indicated that it belonged to D7 genotype which is considered rare in India.
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PMID:Case of fulminant-SSPE associated with measles genotype D7 from India: an autopsy study. 1838 16

We report a 2-year-old girl who had repeated febrile or afebrile seizures since infancy. Prolonged left/right hemiconvulsions and myoclonus of the eyelids/extremities with generalization to tonic-clonic seizures, were refractory to antiepileptic agents. At age 1 year and 4 months, she contracted rotavirus infection, and developed status epilepticus with persistent right hemiclonic seizures. Left unilateral brain edema with subsequent emergence of cortical laminar necrosis and white matter lesions, and progressive atrophy of the left cerebral hemisphere were noted during this period. She showed residual right hemiparesis and mild intellectual disability, and had generalized/eyelid myoclonia and hot water epilepsy after a 5-month seizure-free period. Analysis for SCN1A, the gene encoding the neuronal voltage-gated Na+ channel alpha1 subunit revealed a nonsense mutation, R1892X. These indicate the potential risk in patients with severe myoclonic epilepsy in infancy (SMEI) to develop hemiconvulsion-hemiplegia (HH) syndrome. SCN1A mutations may need to be further explored in patients with HH syndrome without features of SMEI.
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PMID:Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy. 1956 49

A 79-year-old woman was admitted to our hospital, due to acute onset of left hemiparesis and disturbance of consciousness. Although her symptoms improved temporarily, she developed gait disturbance and cognitive deterioration 2 months after the onset. After that, she presented with myoclonus and startle response, followed by akinetic mutism within 8 months after the onset. Serial EEGs revealed no periodic synchronous discharge. Serial diffusion-weighted MRIs showed that high intensity lesions, which initially limited to the right cerebral cortex, gradually spread to the bilateral cerebral cortices and basal ganglia, with relative sparing of central gyri, medial occipital cortices, and hippocampus. Prion protein gene analysis revealed a point mutation (Val-->Ile) at codon 180. The result of this patient suggests that this type of CJD might be associated with an atypical clinical course such as stroke-like episode and selective involvement of cortical and subcortical lesions.
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PMID:[A case of Creutzfeldt-Jakob disease with stroke-like episode as an initial symptom]. 1992 Mar 75

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder in which accumulation of a pathogenic isoform of prion protein (PrP(Sc)) induces neuronal damage with distinct pathologic features. The prognosis of sCJD is devastating: rapid clinical decline is followed by death generally within months after onset of symptoms. The classic clinical manifestations of sCJD are rapidly progressing dementia, myoclonus, and ataxia. However, the spectrum of clinical features can vary considerably. We describe a definite, neuropathologically verified sCJD in a 67-year-old woman who initially presented with progressive stroke-like symptoms: left-sided hemiparesis and ataxia within a few days. The initial brain magnetic resonance imaging (MRI) showed bilateral cortical hyperintensity on diffusion-weighted sequences (DWI) resembling multiple ischemic lesions. Despite anticoagulation with low-molecular-weight heparin, the patient deteriorated rapidly, became dysphagic and bedridden with myoclonic jerks on her left side extremities correlating with intermittent high-amplitude epileptiform discharges on electroencephalography (EEG). Basal ganglia hyperintense signal changes in addition to cortical ribboning were seen in DWI images of a follow-up MRI. Repeated EEG recordings showed an evolution to periodic sharp wave complexes. Protein 14-3-3 was positive in her cerebrospinal fluid specimen, in addition to an abnormally high total tau level. In the terminal stage the patient was in an akinetic, mutistic state with deteriorating consciousness. She died 19 days after admission to the hospital. Neuropathologic investigation corroborated the clinical diagnosis of sCJD with spongiform degeneration and immunohistochemical demonstration of the deposition of pathologic PrP(Sc).
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PMID:Progressive Stroke-Like Symptoms in a Patient with Sporadic Creutzfeldt-Jakob Disease. 2068 29

As the field of movement disorders has developed and matured over the past 25 years, psychogenic movement disorders have become increasingly recognized in subspecialty clinics. The diagnosis can be challenging and should be based on positive features rather than a purely exclusionary approach. The clinical phenotype can be quite varied, although certain categories of abnormal movement are more common than others. Electrophysiological studies may be particularly useful in establishing the diagnosis, especially with respect to tremor and myoclonus, and an argument can be made for adding a "laboratory-supported definite" category to earlier classification schemes. The diagnosis of psychogenic dystonia remains a major challenge, although there are some recent promising developments with respect to the evaluation of cortical plasticity that require further study. The pathogenesis of psychogenic movement disorders is poorly understood; insights may be provided from the study of other neurological conversion disorders such as psychogenic hemiparesis. Psychogenic movement disorders typically result in considerable disability and negatively impact quality of life to the same or greater extent than do many organic movement disorders. Treatment is extremely challenging, and many patients experience chronic disability despite various therapeutic interventions. Given the personal and societal impact of these problems, further advances in our understanding of their pathogenesis and the subsequent development of effective therapies are sorely needed.
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PMID:Psychogenic movement disorders: past developments, current status, and future directions. 2162 61


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