Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

OBJECTIVE--To analyse the natural history of progressive supranuclear palsy (PSP or Steele-Richardson-Olszewski syndrome) and clinical predictors of survival in 24 patients with PSP confirmed by necropsy, who fulfilled the NINDS criteria for a neuropathological diagnosis of typical PSP. METHODS--Patients were selected from the research and clinical files of seven medical centres involving tertiary centres of Austria, England, France, and the United States. Clinical features were analysed in detail. The patients' mean age at onset of PSP was 63 (range 45-73) years. RESULTS--The most frequent clinical features (occurring in at least 75% of the patients) were early postural instability and falls, vertical supranuclear palsy, akinetic-rigid predominant parkinsonian disorder characterised by symmetric bradykinesia and axial rigidity unrelieved by levodopa, pseudobulbar palsy, and frontal release signs. Occasionally, segmental dystonia or myoclonus were described, but neither aphasia nor alien limb syndrome was reported. Fractures occurred in 25% of the patients but were unrelated to the severity of the gait or to the presence of falls. Median survival time was 5.6 (range 2-16.6) years. Onset of falls during the first year, early dysphagia, and incontinence predicted a shorter survival time. Age at onset, sex, early onset of dementia, vertical supranuclear palsy, or axial rigidity had no effect on prognosis of survival. Pneumonia was the most common immediate cause of death. PSP was most often clinically misdiagnosed as Parkinson's disease. Errors in diagnosis suggest that PSP is underdiagnosed. CONCLUSION--Progressive onset of early postural instability with falls or supranuclear vertical palsy in the fifth decade, should suggest the diagnosis of PSP. Onset of falls during the first year are emphasised, as they could lead to an early diagnosis and influence the prognosis of patients with PSP. Whether appropriate treatment of the dysphagia could prolong the survival of PSP patients needs to be explored.
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PMID:Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study. 864 26

Eight cases of clinically diagnosed corticobasal degeneration (CBD) were studied with reference to their symptomatology, brain-imagings and electrophysiological findings. The diagnosis was based on the combination of limb-kinetic apraxia (cortical sign), akinetic-rigid sign (extrapyramidal) and their unilateral predominance. Magnetic resonance imaging (MRI) and 123I-IMP or 99mTc-HMPAO SPECT findings were used to reinforce the diagnosis. The age at onset of 8 cases (4 males, 4 females) was 61 to 80 years (mean 66). Other common symptoms on admission consisted of dysequilibrium (8 cases), dysarthria (8), grasp reflex (6), supranuclear gaze palsy (6), tremor (6), limb dystonia (6) and alien limbs (5). MRI revealed parietal (3 cases) or frontoparietal (3) atrophy. SPECT showed decrease in cerebral blood flow in frontoparietal (3 cases) or frontoparietotemporal lobes (5). SPECT surpassed MRI to detect unilateral predominance of the lesions. With magnetic stimulation of the head and neck central motor conduction time (CMCT) was normal, while motor inhibitory periods (IPs) were significantly shorter in CBD patients compared with those in normal controls and the patients with Parkinson's disease. In 3 patients with reflex myoclonus, giant SEPs were not evoked, though with positive C-reflex, suggesting an elevated excitability of cerebral cortex unrelated to the production of giant SEPs.
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PMID:[Corticobasal degeneration: symptomatological, brain-imaging and electrophysiological studies]. 875 30

The method of magnetic transcranial stimulation of the motor cortex produces both excitatory and inhibitory effect. Definition of excitability and inhibitory threshold represents clinically useful indicator. In order to reduce variability of the thresholds, it is important to notice mental activity, posture, type of magnetic stimulator, involuntary movement, muscle tonus and age. Excitability threshold was elevated in patients with stroke and reduced in patients with epilepsy. Enhancement of motor excitability by subthreshold magnetic stimulation of the motor cortex prior to voluntary movement was observed during simple reaction time measurement. Reaction time can be divided into a period of resting condition and the premotion facilitatory effect in the 50 approximately 60 ms after the target stimuli. In patients with Parkinson's disease, the prolongation of reaction time is due to a prolongation of a period of premotion facilitatory effect. Jerk-locked MEP is a useful technique to evaluate a change of motor excitability after voluntary or involuntary movement. To record jerk-locked MEP, magnetic stimulation of the motor cortex is delivered at varying intervals after the onset of the EMG activity. We classified the cortical reflex myoclonus into three forms according to changes of motor excitability after C reflex.
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PMID:[Analysis of cortical excitation and inhibition using transcranial magnetic stimulation]. 875 48

The accuracy of the clinical diagnosis of corticobasal degeneration (CBD) is unknown. To determine its diagnostic accuracy, we presented 105 cases with known neuropathologic diagnoses, including CBD (n = 10), progressive supranuclear palsy (PSP, n = 24), Parkinson's disease (n = 15), diffuse Lewy body disease (n = 14), multiple system atrophy (n = 16), postencephalitic parkinsonism (n = 7), Pick's disease (n = 7), Creutzfeldt-Jakob disease (n = 4), Alzheimer's disease (n = 4), vascular parkinsonism (n = 3), and Whipple's disease (n = 1), as clinical vignettes to six neurologists unaware of the autopsy findings. Reliability was measured with the kappa statistics. The neurologists' clinical diagnoses were compared with clinicopathologic diagnoses for sensitivity, specificity, and positive predictive values at first and last clinic visits. The group reliability for the diagnosis of CBD significantly improved from moderate for the first visit (mean = 34 months after onset) to substantial for the last (68 months after onset). For the first visit, mean sensitivity for CBD was low (35%), but specificity was near-perfect (99.6%). For the last visit, mean sensitivity minimally increased (48.3%), and specificity remained stable. False-negative misdiagnoses mainly occurred with PSP. False-positive diagnoses were rare. The extremely low sensitivity of the clinical diagnosis of CBD suggests that this disorder is markedly underdiagnosed. Although the validity of the clinical diagnosis might have been improved if neurologists could have examined these patients, more important is that this disorder was misdiagnosed by the primary neurologists. In our data set, the best predictors for the diagnosis of CBD included limb dystonia, ideomotor apraxia, myoclonus, and asymmetric akinetic-rigid syndrome with late onset of gait or balance disturbances.
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PMID:Accuracy of the clinical diagnosis of corticobasal degeneration: a clinicopathologic study. 900 6

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

Primary defects of mitochondrial DNA leading to respiratory chain dysfunction have been described in association with dystonia, chorea and parkinsonism. Myoclonus remains the commonest movement disorder associated with such defects. The genetic basis of Leigh's syndrome, which is frequently associated with movement disorders, may be mitochondrial or nuclear. Respiratory chain dysfunction has been identified in Huntington's disease in addition to Parkinson's disease, but the cause and relationship of this dysfunction to the pathogenesis of these common disorders is not yet determined.
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PMID:Movement disorders and mitochondrial dysfunction. 926 61

Sleep is normally a time of motor quiescence. Motor disorders may, however, arise during the different phases of sleep. Nocturnal myoclonus or periodic leg movements in sleep usually occur during light sleep and may be considered the motor accompaniment of the cyclic fluctuations in excitability typical of such stages. Nocturnal frontal lobe epilepsy also occurs during NREM sleep and may be misdiagnosed as parasomnia. REM behavior disorders are instead dissociated episodes of REM sleep without atonia, often associated with or even heralding Parkinson's disease or multiple system atrophy.
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PMID:Motor disorders in sleep. 936 31

We report four patients with a new type of familial parkinsonism and dementia consisting of an autosomal dominant inheritance, dopa-responsive parkinsonism, severe dementia, variable myoclonus and autonomic disturbances. Autopsy of two patients revealed symmetrical cerebral atrophy with fronto-temporal dominant distribution, and marked depigmentation in the substantia nigra and locus ceruleus. Neuronal loss and gliosis were observed in the deep cerebral cortex and amygdala as well as in the areas vulnerable to Parkinson's disease. In the cerebral cortex, swollen neurons with frequent granulovacuolar changes were observed, consisting of ballooned neurons and those with argyrophilic intracytoplasmic inclusions, in addition to neuropil threads. Atypical neurofibrillary tangles, which barely stained with tau antibodies, were numerous in the upper cortical layers, consisting of 15-nm straight tubules. In addition, tau-negative astrocytic fibrillary tangles were also frequent. Electron microscopically, the ballooned neurons and argyrophilic neuronal inclusions contained filamentous structures coated with fuzzy electron-dense deposits. The inclusions showed immunohistochemical features different from those of cortical Lewy bodies and Pick bodies. Occasional Lewy bodies were present in the brain stem lesions of both patients. In two of our patients, the pathology in the brain stem was similar to that of Parkinson's disease, whereas their cerebral pathology was unusual and has not been reported previously.
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PMID:Familial parkinsonism and dementia with ballooned neurons, argyrophilic neuronal inclusions, atypical neurofibrillary tangles, tau-negative astrocytic fibrillary tangles, and Lewy bodies. 945 18

This article reviews the cytoskeletal abnormalities, morphologic lesion patterns, and resulting pathophysiology of the most frequent neurodegenerative movement disorders caused by dysfunction of the basal ganglia and related neuronal loops. The following topics are discussed: Among the akinetic-rigid Lewy body disorders is idiopathic Parkinson's disease, which reveals specific lesion patterns of pathophysiologic and therapeutic relevance. Dementia with Lewy bodies characterized by cortical Lewy bodies appears intermediate between Parkinson's and Alzheimer's diseases. Tau pathologic disorders may show some clinical and morphologic overlap. Multiple system atrophy has ubiquitous oligodendroglial inclusions as a cytopathologic hallmark. Secondary parkinsonism includes drug-related, toxic, and other symptomatic disorders. Hyperkinetic disorders include CAG-related inherited diseases, showing specific genetic defects and morphologic lesions. Dystonia syndromes show inconsistent pathologic findings, and myoclonus may be related to a variety of disorders. Consensus data on clinical and neuropathologic criteria already existing for some disorders, together with molecular genetic and biochemical data will provide further insight into the complex pathophysiology and pathogenesis of movement disorders.
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PMID:Neuropathology of movement disorders. 949 89

Magnetic stimulation (MS) was performed in 9 patients with clinically diagnosed corticobasal degeneration (CBD), 10 patients with Parkinson's disease (PD) (under L-dopa therapy) and 10 age-matched healthy subjects (HS). Motor evoked potentials (MEPs) were recorded from the abductor pollicis brevis muscle (APB) in response to cortical stimulation and cervical stimulation (C7). In all patients with CBD, the duration of inhibitory period (IP), which was a transient suppression of muscle action potentials following MEPs by cortical stimulation, was significantly shorter than that in PD and HS. In 4 patients with CBD who presented with focal and distal myoclonus of one limb, long latency reflexes following electrical stimulation of the median nerve showed C-reflex, which had a latency of about 40 ms, but a giant SEP and a jerk-locked cortical potential were not demonstrated. With cervical MS, these 4 patients also showed long-latency (about 30 ms) evoked potentials (LEPs), which were much greater in latency from cervical stimulation-induced MEPs (cervical MEPs). LEPs may be mediated via a transcortical loop, because the sum of the latency of C-reflex and compound muscle action potential approximates that of LEP and cervical MEP. In patients with CBD, these findings suggest disturbance within the basal ganglia-thalamocortical motor circuit and a damage of the motor cortices including the primary motor cortex, premotor cortex and supplementary motor cortex.
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PMID:[A study of magnetic stimulation in patients with clinically diagnosed corticobasal degeneration]. 950 65


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