Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 an uncommon, sporadic, neurodegenerative disorder of mid- to late-adult life. We describe a further example of the pathologic heterogeneity of this condition. A 71-year-old woman initially presented dysarthria, clumsiness, progressive asymmetric bradykinesia, and rigidity in left arm. Rigidity gradually involved ipsilateral leg; postural instability with falls, blepharospasm, and dysphagia subsequently developed. She has been previously diagnosed as unresponsive Parkinson's Disease. At our clinical examination, she presented left upper-arm-fixed-dystonia, spasticity in left lower limb and pyramidal signs (Babinski and Hoffmann). Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex. Neuropsychological examination showed an impairment in visuospatial functioning, frontal-executive dysfunction, and hemineglect. This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition. There are no absolute markers for the clinical diagnosis that is complicated by the variability of presentation involving also cognitive symptoms that are reviewed in the paper. Despite the difficulty of diagnosing CBD, somatosensory evoked potentials, motor evoked potentials, long latency reflexes, and correlations between results on electroencephalography (EEG) and electromyography (EMG) provide further support for a CBD diagnosis. These techniques are also used to identify neurophysiological correlates of the neurological signs of the disease.
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PMID:An unusual cause of dementia: essential diagnostic elements of corticobasal degeneration-a case report and review of the literature. 2178

Patients with corticobasal degeneration can present with several different clinical syndromes, making ante-mortem diagnosis a challenge. Corticobasal syndrome is the clinical phenotype originally described for corticobasal degeneration, characterized by asymmetric rigidity and apraxia, cortical sensory deficits, dystonia and myoclonus. Some patients do not develop these features, but instead have clinical features consistent with the Richardson syndrome presentation of progressive supranuclear palsy, characterized by postural instability, early unexplained falls, vertical supranuclear gaze palsy, symmetric motor disability and dysphagia. The aim of this study was to identify differences in corticobasal degeneration presenting with corticobasal syndrome (n = 11) or Richardson syndrome (n = 15) with respect to demographic, clinical and neuropathological features. Corticobasal degeneration cases were also compared with patients with pathologically proven progressive supranuclear palsy with Richardson syndrome (n = 15). Cases with corticobasal degeneration, regardless of presentation, shared histopathological and tau biochemical characteristics, but they had differing densities of tau pathology in neuroanatomical regions that correlated with their clinical presentation. In particular, those with corticobasal syndrome had greater tau pathology in the primary motor and somatosensory cortices and putamen, while those with Richardson syndrome had greater tau pathology in limbic and hindbrain structures. Compared with progressive supranuclear palsy, patients with corticobasal degeneration and Richardson syndrome had less neuronal loss in the subthalamic nucleus, but more severe neuronal loss in the medial substantia nigra and greater atrophy of the anterior corpus callosum. Clinically, they had more cognitive impairment and frontal behavioural dysfunction. The results suggest that Richardson syndrome can be a clinicopathological presentation of corticobasal degeneration. Atrophy of anterior corpus callosum may be a potential neuroimaging marker to differentiate corticobasal degeneration from progressive supranuclear palsy in patients with Richardson syndrome.
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PMID:Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. 2193 7

Corticobasal degeneration is a degenerative disease characterized by asymmetric brain atrophy and clinically by asymmetric onset of an akinetic-rigid syndrome with apraxia, dysarthria and dysphagia. Diagnosis must be confirmed by autopsy. We have investigated the ability of MRI to detect asymmetric atrophy to support the clinical diagnosis and permit differential diagnosis against other degenerative disorders. Ten patients with clinical suspicion of corticobasal degeneration were studied by brain MRI, and the images were reviewed with the side of greater clinical involvement unknown to the reviewer. The original reports of MR scans were also reviewed. MRI demonstrates that cortical atrophy is asymmetric and more marked in the posterior frontal and mainly in the parietal regions on the side contralateral to the clinical symptoms. Asymmetry was rarely detected on the first reading. Our review of MRI findings demonstrates that it is possible to detect asymmetrical parietal atrophy, thus supporting the clinical diagnosis of corticobasal degeneration. It is essential to be aware of the disease and alert for asymmetries in order to discern the more involved side. No abnormalities were detected in the basal ganglia.
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PMID:MRI in corticobasal degeneration. 2428 81