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)

Corticobasal degeneration presents with an asymmetric akinetic-rigid syndrome, apraxia and combinations of supranuclear gaze palsy, myoclonus, and an alien limb. Six patients aged 59-77 yrs, diagnosed on clinical criteria as having corticobasal degeneration, have been studied with positron emission tomography using tracers of dopamine storage capacity and oxygen metabolism. Striatal 18F-6-fluorodopa uptake was reduced in an asymmetric pattern, caudate and putamen being involved in all cases. Uptake into medial frontal cortex was also impaired. Regional cortical oxygen metabolism was most significantly depressed in the superior and posterior temporal, inferior parietal, and occipital associated cortices. Within the frontal lobe, the hypometabolism was chiefly posterior. This unique combination of regional hypometabolism and disruption of the nigrostriatal system is discussed in relation to the clinical features of the disease and is compared with reported findings in other disorders of cognition and movement.
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PMID:Corticobasal degeneration. A unique pattern of regional cortical oxygen hypometabolism and striatal fluorodopa uptake demonstrated by positron emission tomography. 190 Jul 28

Corticobasal degeneration (CBD) is not rare disease, because in our clinic 13 patients were observed for the past 8 years, with ratio to those with Parkinson's disease being 1:18. Our clinical criteria of this disease consist of the combination of 1) limb-kinetic apraxia as cortical sign, 2) akinetic-rigid sign as extrapyramidal sign, 3) their marked asymmetry, and as additional findings, 4) the presence of grasp reflex, alien hand sign, reflex myoclonus, limb dystonia, and others, and 5) neuroimagings (MRI, SPECT) suggestive of asymmetric cortical lesions. There are reports indicating that clinical CBD was diagnosed as Pick's disease, progressive supranuclear palsy and Alzheimer's disease, pathologically. Therefore, more basic investigations, especially from molecular biology are necessary to discriminate these corticobasal complex disorders.
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PMID:[Cortico-basal degeneration]. 901 38

Corticobasal degeneration (CBD) is a slowly progressive disorder characterized by an asymmetrical akinetic-rigid syndrome, supranuclear ophthalmoplegia, dystonia, often accompanied by involuntary movements, particularly myoclonus, and associated with lateralized cortical signs such as alien limb behavior and apraxia. Computerized tomography demonstrates asymmetrical frontoparietal cortical atrophy in the later stages of the illness. Neuropathological examination reveals neuronal loss, gliosis and swollen achromatic neurons within the frontal and temporal cortices, and the substantia nigra. We discuss here a unique phenomenon not described so far in three patients with clinical features of CBD, one with subsequent autopsy observations. When awake, they all showed a common behavior, their mouth opened constantly and immediately, when a tongue-depresser was approached in front of it by the examiner. In two of them, their mouth also opened when its corner was stroked by a tongue-depressor. They could not control these phenomena at all, even they were asked not to open their mouth. We would like to call these phenomena "forced mouth opening reactions" because they were uncontrollable voluntarily. They may be divided into two groups, i.e. visual and tactile "forced mouth opening reactions". In all the patients the neurological, neuro-imaging and neuropathological data showed that the frontal lobes were damaged. Additionally, they had some frontal lobe release signs such as forced grasping, forced groping, or alien limb sign. We would like to apply the mechanism for these release signs to the "forced mouth opening reactions". Thus, we speculate that the frontal lobe contains a higher motor control mechanism for normal mouth opening movement, and the "forced mouth opening reactions" result from impairment of this control.
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PMID:["Forced mouth opening reaction" associated with corticobasal degeneration]. 924 34

Corticobasal degeneration (CBD) was first reported by Rebeiz et al as corticodentatonigral degeneration with neuronal achromasia in 1967. After Gibb et al described 7 cases including 4 cases from the literature under the term of corticobasal degeneration, CBD has become widely recognized. The disease starts mainly in one's fifties and sixties with the duration of 6 to 7 years. The clinical features include asymmetric parkinsonism, cerebral cortical signs, and others. Typically, patients present with unilateral clumsiness with akinetic-rigid syndrome and limb-kinetic apraxia. Postural instability, gait disturbance and involuntary movements such as dystonia are not uncommon. The parkinsonism is DOPA-resistant. BEsides apraxia, alien limb syndrome, cortical sensory disturbances, frontal lobe-release signs, and dementia are representative cortical signs. Other clinical features include dysarthria, pyramidal tract signs and supranuclear gaze palsy. MRI, SPECT or PET reveals asymmetric atrophy, decrease in blood flow or reduction in metabolism of the frontal parietal region around the central sulcus. Electrophysiological and magnetic stimulation studies demonstrated increase in excitability of the cerebral cortex. Myoclonus in CBD is cortical in origin but without any preceding potential or giant somatosensory evoked potential. Neuropathologically CBD is characterized by involvement of the particular cortices and substantia nigra. Other structures such as the putamen, pallidum, thalamus, subthalamus, cerebellar dentate nucleus and brainstem are affected to various extents. Histological features include achromatic, ballooned neurons as well as tau and Gallyas positive neuronal and glial intracytoplasmic inclusions. Astrocytic plaque is considered to be a form of glial inclusions specific to CBD. Diagnosis of typical cases of CBD appears easy but atypical cases were reported with showed dementia or aphasia as a main feature, or were devoid of the asymmetry of signs and symptoms. CBD, progressive supranuclear palsy and Pick's disease share both clinical and neuropathological features to some extent while they are clearly distinct among typical cases. The etiology and pathomechanism of CBD remain to be elucidated.
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PMID:[Corticobasal degeneration]. 957 68

Corticobasal degeneration (CBD) exhibits distinct features of akinesia, the 'alien limb' sign and cortical myoclonus. We report a 63-year old woman with a history of CBD for 18 months who was studied twice using all-night polysomnography with an interval of 13 months. Both recordings revealed frequent periodic arm and leg movements predominantly during non-REM sleep. To our knowledge this has not been described in a patient with CBD so far. Similar to a previous report we found REM sleep without atonia (RWA) in all REM episodes. However, the patient showed RWA and some non violent movements that fulfilled the diagnosis of subclinical REM sleep behavior disorder only in the second investigation. These observations may be due to the underlying degenerative process that involves not only cortical but also thalamic and brainstem structures.
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PMID:Sleep and periodic limb movements in corticobasal degeneration. 1459 51

Corticobasal degeneration was described in 1968 by Rebeiz, Kolodny and Richardson, who characterized the disease as a syndrome of asymmetric akinesis and rigidity, dystonia of the upper limb, apraxia, myoclonus and dementia. Atrophy of the frontal and parietal lobe, neuronal loss, gliosis and achromatic neurones (and nowadays astrocytic plaques) are the characteristic pathological features of the disease. Corticobasal degeneration is a rare or a rarely recognized disease and it is frequently misdiagnosed as Parkinson's disease. According to the Lang's criteria, corticobasal degeneration can be diagnosed in the presence of rigidity and one cortical symptom (apraxia, cortical sensory loss, alien hand) or in a patient with rigidity, dystonia and focal reflex myoclonus. Exclusion criteria are early dementia (as in primary degenerative dementias), early vertical gaze problems (as in progressive supranuclear palsy), resting tremor and good, sustained therapeutic response to levodopa (as in Parkinson's disease), severe autonomic problems (as in multiple system atrophy) and any pathology on imaging studies which might explain the clinical symptoms. It should be mentioned, that recently early dementia is recognized as an initial symptom of corticobasal degeneration. The authors present a case and review the literature to call attention to this disorder.
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PMID:[Clinical features of corticobasal degeneration]. 1588 98

Corticobasal degeneration (CBD) is a rare sporadic 4-repeat tauopathy. We report here the first Polish case of pathologically proven CBD. Our patient developed clumsiness of the right hand at age 63 years. During the course of his illness he suffered from progressive asymmetric parkinsonism unresponsive to dopaminergic therapy. Focal dystonia affecting right upper extremity, non-fluent aphasia, dysphagia, supranuclear vertical gaze palsy, imbalance and myoclonus ensued. The patient died of pneumonia at age 71 years. Head magnetic resonance imaging revealed the presence of asymmetric cortical atrophy contralateral to the clinically more affected right side. Median somatosensory evoked potentials performed bilaterally demonstrated significant reduction of cortical evoked potential amplitudes recorded from the left scalp electrodes. Neuropathological examination showed cortical atrophy of the frontal and parietal lobes with superficial spongiosis and diffuse cortical gliosis. Numerous ballooned neurons were found in frontal and parietal cortices. The most remarkable pathology was extensive tau-immunoreactivity of glial and neuronal cell processes, significantly pronounced in the frontotemporal cortex, basal ganglia, thalamus and brainstem. Recent research studies have resulted in better clinical, pathological and genetic characterization of sporadic tauopathies. It is hoped that similar progress will ensue in the development of symptomatic and eventually curative treatments for these rare conditions.
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PMID:Corticobasal degeneration -- clinico-pathological considerations. 1718 52

Corticobasal degeneration (CBD) is a rare neurodegenerative disorder characterized by distinctive clinical manifestations including asymmetric akinetic-rigid syndrome and higher cortical dysfunctions. We characterized the clinical, electrophysiological and imaging presentations in four patients with CBD. All patients exhibited unilateral hand dystonia, rigidity and apraxia, but showed no significant response to levodopa therapy. Surface electromyography demonstrated short duration and stimulus-sensitive myoclonus in three of the four patients. On the other hand, there was no "giant" SEPs (somatosensory evoked potentials), and the backaveraged electroencephalography did not show any jerk-locked cortical potentials. Brain magnetic resonance imaging showed asymmetrical cortical atrophy. [99mTc]HMPAO single-photon emission computed tomography (SPECT) revealed decreased regional cerebral blood flow in the frontoparietal areas and thalamus opposite to the more severely affected limb. [99mTc]TRODAT-1 SPECT showed decreased uptake in the striatum of the affected hemisphere. These data supported that there are abnormal cortical excitability and asymmetric pathological change of the affected hemisphere in the patients with CBD.
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PMID:Clinical, imaging and electrophysiological studies of corticobasal degeneration. 1748 28

Corticobasal degeneration (CBD) is a neurodegenerative disorder characterized clinically by a combination of cortical and basal ganglia signs. Pathologically, it is classified as a tauopathy. The most distinctive clinical feature is its unilateral or markedly asymmetric presentation; among parkinsonian syndromes, with rare exceptions, only Parkinson's disease presents with such asymmetry. The most common presenting cortical features include apraxia (patients often complain of a "useless" limb), aphasia (usually nonfluent), parietal lobe sensory signs (agraphesthesia, extinction, astereognosis), frontal dementia, or myoclonus. Basal ganglia signs include rigidity, akinesia, limb dystonia, and postural instability. The diagnosis is often challenging for three reasons: 1) The full complement of findings are rarely seen at presentation; 2) If CBD is not suspected, subtle but relevant findings (eg, extinction, language impairment, myoclonus, or apraxia) may not be searched for or appreciated; 3) The clinical picture of CBD has substantial overlap with a variety of other parkinsonian and dementing illnesses. The differential diagnosis includes Parkinson's disease, progressive supranuclear palsy, frontotemporal dementia, primary progressive aphasia, and Alzheimer's disease. The clinical diagnosis is not confirmed pathologically in up to half of cases, so the term corticobasal syndrome is often preferred during life, reserving the term corticobasal degeneration for pathologically verified cases. Treatment of CBD is primarily supportive, and most patients die within 10 years of onset. Parkinsonian signs may improve to a modest degree with levodopa, clonazepam can suppress myoclonus, and botulinum toxin can relieve dystonia. Early speech therapy, physical therapy, and occupational therapy, as well as assist devices such as a rolling walker may improve functioning and reduce complications such as aspiration pneumonia and falls. With time, however, most patients lose their independence and mobility. Throughout the course of the illness (particularly when it is advanced), caring for the caregiver is as important as caring for the patient.
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PMID:Corticobasal degeneration. 1936 52

Levetiracetam (LEV) has been shown to suppress myoclonus of various origins. Corticobasal degeneration (CBD), a progressive neurodegenerative disorder with Parkinsonian syndrome, is frequently accompanied by myoclonus. We investigated the effect of LEV on myoclonus in two CBD patients. LEV remarkably decreased the myoclonic activity in both patients already at 1,500 mg/day dose. This is the first report on LEV alleviating myoclonus in CBD. Our data indicate that it might be worthwhile to assess this effect in an appropriately designed study.
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PMID:Levetiracetam reduces myoclonus in corticobasal degeneration: report of two cases. 1975 67


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