摘要:

AbstractMachado‐Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorde

ISSN:0885-3185    

DOI:10.1002/mds.870070302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractExperience is described in 25 patients from southern New England with Machado‐Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophie

ISSN:0885-3185    

DOI:10.1002/mds.870070303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe describe a patient with chronic renal failure who suffered multifocal action‐induced jerks. Electromyography (EMG) recorded the typical silence of asterixis. Back‐averaging the EEG activity preceding the EMG silent periods in the forearm showed a biphasic wave antedating the asterixis by 23 ms. Somatosensory evoked potentials (SEPs) after median nerve stimulation were pathologically enlarged on both hemispheres. Brain‐mapping of the biphasic wave preceding asterixis and the giant SEPs indicated a common origin in the sensorimotor cortex. This observation provides further documentation of a cortical origin for some types of asterixis in h

ISSN:0885-3185    

DOI:10.1002/mds.870070304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractA mosaic pattern of striatal pathology is described in a male who developed severe generalised dystonia from the age of 10 years, and died at the age of 18 years. There was no family history of dystonia, and extensive investigations during his life failed to identify a cause for the dystonia. The caudate nucleus and putamen showed a network of cell loss and gliosis surrounding islands of preserved striatum. Dorsal parts showed confluent gliosis, and ventral parts were spared. The pattern suggested a correlation with patch‐matrix organisation, but there was no correlation with the distribution of calbindin immunoreactive cells, which are present in the matrix of the classical striosome‐matrix organisation. The pathological findings were unlike those in status marmoratus, perinatal hypoxia‐ischaemia, Huntington's disease, and neuroacanthocytosis, but similar to those reported in a 44‐year‐old man with predominantly cranial

ISSN:0885-3185    

DOI:10.1002/mds.870070305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractThe effect of two drugs upon multifocal myoclonic jerks was evaluated. The drugs influence the central cholinergic system in opposite ways. Eight patients with progressive and nonprogressive myoclonic epilepsy were tested. The single blind test was used. The number of myoclonic jerks after intravenous physostigmine (mean dose 0.02 mg/kg) and that after atropine (0.04 mg/kg) was compared to number of myoclonic jerks in the drug‐free periods and with placebo. Placebo was without an effect. Physostigmine slightly increased the number of jerks. Atropine decreased the number significantly. In most patients the results were not striking. It is suggested that the cholinergic system may participate in the physiopathology of the studied myoclonic in a rather indirect, perhaps modulating wa

ISSN:0885-3185    

DOI:10.1002/mds.870070306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractOxygen consumption and enzyme activity were evaluted in platelet mitochondria from 17 patients with Parkinson's disease. In comparison with age‐matched controls, no consistent abnormality could be discerned in complex I, complex II‐III, or complex IV oxygen consumption, or in the enzyme activity of these respiratory chain complexes. Neither chronic therapy with levodopa/carbidopa alone nor in combination with deprenyl significantly affected any measure of mitochondrial respiratory function. There was no discernible relationship between patient age or disease severity and any parameter of mitochondrial respiration. Moreover, blood lactate levels following glucose loading were not different in patients and controls. These results fail to support the occurrence of a generalized defect in any mitochondrial respiratory function in Parkinson's dise

ISSN:0885-3185    

DOI:10.1002/mds.870070307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractSeveral studies have shown that the visual system is affected in Parkinson's disease (PD) with reduced contrast sensitivity, low‐contrast acuity, and flicker sensitivity, as well as altered electroretinograms (ERGs) and pattern visual evoked potentials (VEPs). Apparently, however, no study has yet specifically determined whether visual acuity to high‐contrast stimuli is impaired in PD. Visual acuity was measured in a group of 16 patients with PD, both on and off drugs (for 24 h), and 16 age‐ and sex‐matched normal control subjects. Acuity was impaired in the PD group both on standard Snellen chart and on a screen in a computerized test of visual resolution. The degree of impairment was 24 and 25%, respectively, in the two tests. The PD patients had marginally better acuity on both tests while receiving drugs, but the differences were not significant. The difference between the two groups was consistent with impaired resolution and could not be accounted for by any perceptual dysfunction that may also have been present in the PD group. Conversely, however, impaired acuity may be implicated in studies that have reported mild deficits of visuospatial/visuoperceptual function in PD. Reduced acuity appears to be a subtle sequela of dopaminergic deficiency in the visual

ISSN:0885-3185    

DOI:10.1002/mds.870070308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractA selective dopamine D1‐receptor agonist, CY 208‐243, was administered to 23 de novo patients who had had Parkinson disease (PD) for ≤3 months. The drug was first used as monotherapy and then in some patients in combination with a dopamine D2‐receptor agonist, bromocriptine. Results showed that CY 208‐243 exerted a mild antiparkinsonian action, and tremor was the main symptom that consistently improved. The addition of bromocriptine ≤15 mg to CY 208‐243 did not result in additional improvement, but this might be due to the short duration of treatment and the low doses of bromocriptine. The study was prematurely discontinued for safety reasons. We conclude that D1‐receptor stimulation may result in improvement of motor d

ISSN:0885-3185    

DOI:10.1002/mds.870070309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractThe potential difference in the concentration‐effect relationship of oral sequential doses of levodopa was explored in six Parkinsonian patients with complex fluctuating response. These patients showed “wearing‐off phenomena” characterized by a transient worsening of motor function at the end of the first morning dose response to below baseline values and complained of a progressive reduction of levodopa effect during the day. A first standard levodopa dose was given in the morning, after an overnight fast and levodopa withdrawal. A second equal levodopa dose was administered immediately at the end of the first dose deterioration phase. Postimprovement worsening of motor response was also observed after the second levodopa dose in all patients. No significant difference in the pharmacokinetics of levodopa or in duration or magnitude of motor response could be appreciated between the two doses. These results further support the suggestion that, under controlled dietary conditions, plasma levodopa levels and effects relationship is reproducible between doses. Moreover, even when transient deterioration of motor function occurs between levodopa doses, the central dopaminergic system appears to remain responsive to t

ISSN:0885-3185    

DOI:10.1002/mds.870070310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractIn six patients with Parkinson's disease exhibiting severe “on‐off” phenomena, a 200‐mg intravenous bolus of eitherL‐DOPA or of its methyl ester were equally effective in reversing motor deficits, although the duration of action of the methyl ester was shorter. There were no marked differences in phermacokinetic parameters forL‐DOPA plasma levels after administration ofL‐DOPA and the methyl ester. In three patients, optimal infusion rates for the maintenance of mobility were established forL‐DOPA andL‐DOPA methyl ester. Both drugs were able to maintain patients “on” throughout a 12‐h infusion period. However, on average the optimal infusion rate ofL‐DOPA methyl ester was 2.7 times greater than that forL‐DOPA. There was no marked difference in the plasma levels ofL‐DOPA achieved, but 3‐O‐methyl DOPA levels increased more after infusion ofL‐DOPA methyl ester than after infusion ofL‐DOPA itself. The half‐life of elimination and volume of distribution ofL‐DOPA formed form the methyl ester were markedly increased compared with values obtained after either an intravenous bolus of methyl ester or after an intravenous infusion ofL‐DOPA itself. An intravenous bolus ofL‐DOPA methyl ester produces an equivalent magnitude of clinical response to the same dose ofL‐DOPA. However, higher optimal infusion rates of methyl ester thanL‐DOPA are required to produce continuous effect. The pharmacokinetic handling ofL‐DOPA methyl ester given by intravenous infusion may dif

ISSN:0885-3185    

DOI:10.1002/mds.870070311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY