摘要:

AbstractPersons symptomatic and at risk for Huntington's disease (HD) from a large extended family in the state of Zulia, Venezuela, have been followed prospectively for 7 years. Between 1981 and 1988, 593 people were examined, of whom 128 had symptomatic HD and 171 persons at risk had examination abnormalities that were insufficient to meet criteria for diagnosis. The remaining 294 had normal examinations. Abnormalities of saccadic eye movement and slowness of rapid alternating movements were the most common abnormalities found in at‐risk individuals. Thirty persons who did not meet criteria for diagnosis at their first examination have subsequently been diagnosed with symptomatic HD. Their average age at diagnosis was 33.5 ± 8.3 (SD) years. The likelihood of developing symptomatic HD within 3 years was 3% for those persons with normal first examinations, 23% for those with mildly abnormal first examinations, and 60% for those with highly abnormal first examinations. The rate of disease progression in early symptomatic cases were 1.4 ± 0.1 (SEM) points per year on the Shoulson‐Fahn functional capacity scale. Paternal or maternal inheritance did not appear to affect the rate of progression in this group of individuals. The data suggest that there is not a discrete age of onset but rather a prolonged period of time during which symptoms u

ISSN:0885-3185    

DOI:10.1002/mds.870050202

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

年代:1990

数据来源: WILEY

摘要:

AbstractLong‐term treatment of human Parkinson's disease with levodopa or dopamine agonists is often complicated by the appearance of abnormal involuntary movements (dyskinesias) that are extremely difficult to control. Little is known of the cause, pathophysiological mechanisms, or possible strategies for amelioration of this manifestation of dyskinesia. A hypothesis is set forth on the neural mechanisms that mediate levodopa‐ or dopamine agonist‐induced dyskinesia (in particular chorea) as a side effect of the treatment of parkinsonism. Evidence is drawn from both clinical observations and experimental studies in a spectrum of movement disorders ranging from ballism through chorea to parkinsonism. It is proposed that (a) All forms of chorea, whatever their origin, share a common underlying neural mechanism. (b) Disordered activity of the subthalamic nucleus is central to the generation of choreic movements. In levodopa‐ or dopamine agonist‐induced dyskinesia, (c) The site of action of dopaminergic agents in causing chorea is the putamen. (d) The specific pathophysiological state conducive to the appearance of chorea is brought about by the long‐term exposure of the dopamine‐depleted (parkinsonian) putamen to exogenous dopaminergic agents. (e) Long‐term exposure to dopaminergic agents causes (either directly or indirectly) preferential inhibition of the subpopulation of putaminal neurones that project specifically to the lateral segment of the globus pallidus. This causes disinhibition of lateral pallidal neurones, which become overactive and physiologically inhibit the subthalamic nucleus. (f) The hypothesis suggests a number of possible strategies that might be useful for the alleviation of levodopa‐i

ISSN:0885-3185    

DOI:10.1002/mds.870050203

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

年代:1990

数据来源: WILEY

摘要:

AbstractOf 85 consecutive patients with mitochondrial myopathy, 29 had clinically significant central nervous system involvement. Nine of these had movement disorders that included dystonia, chorea, parkinsonism, and myoclonus. Autopsy studies of one patient with ataxia, dementia, and parkinsonism followed by dystonia showed the features of olivopontocerebellar atrophy with additional degenerative changes in the basal ganglia. Postmortem in a further case with myoclonus, deafness, muscle weakness, retinopathy, and ataxia showed symmetrical mineralisation of the striatopallidodentatal system.

ISSN:0885-3185    

DOI:10.1002/mds.870050204

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

年代:1990

数据来源: WILEY

摘要:

AbstractFive patients exhibited severe tremor in the upper extremity, primarily when attempting to write or draw. Electromyography was performed to determine the patterns of muscle activity that were responsible for this tremor. Tremor was measured with an accelerometer and with a digitizing tablet. Two patients had postural tremor that was indistinguishable from mild, high‐frequency essential tremor. All patients exhibited a severe 5–7‐Hz tremor during the acts of writing and drawing. Muscles throughout the affected extremity exhibited rhythmic 5–7‐Hz bursts of motor unit discharge, and the average level of motor unit activity was tonically increased in antagonistic muscles. This abnormal coactivation of antagonistic muscles produced subtle dystonic posturing of the affected limb that was overshadowed by severe tremor. Electromyography was useful in confirming the coexistence of tremor and dystonia in our patients. The nonspecificity of dystonia and postural tremor must be considered when discussing the nosology and pathophysiology of primary writi

ISSN:0885-3185    

DOI:10.1002/mds.870050205

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

年代:1990

数据来源: WILEY

摘要:

AbstractThe association of psychogenic neurological features with organic neurological disease is commonly acknowledged. However, the occurrence of psychogenic dyskinesias in patients with underlying organic movement disorders is not well recognized. Six cases of psychogenic dyskinesias complicating preexisting organic movement disorders are described. This possibility must be carefully considered and excluded before an unusual movement disorder can be considered entirely psychogenic.

ISSN:0885-3185    

DOI:10.1002/mds.870050206

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

年代:1990

数据来源: WILEY

摘要:

AbstractDentatorubro‐pallidoluysian atrophy (DRPLA) has a variable clinical presentation but the pathology is routinely confined to cerebellifugal and pallidofugal systems. We present a case of DRPLA of the myoclonus epilepsy type in which prominent posterior column degeneration was added to the pathological picture. This case illustrates the concept that the neurodegenerative diseases can be a continuum of both clinical and pathological presentation

ISSN:0885-3185    

DOI:10.1002/mds.870050207

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

年代:1990

数据来源: WILEY

摘要:

AbstractVoluntary gaze may evoke a number of neurological phenomena such as vertigo, tinnitus, blepharoclonus, eyelid nystagmus, “facial nystagmus,” involuntary laughter, and seizures. We report two patients in whom eccentric gaze evoked facial twitching and arm movement. Electroencephalograms remained unchanged during these movements. The pathogenesis of these movements is unclear but may involve ephaptic transmiss

ISSN:0885-3185    

DOI:10.1002/mds.870050208

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

年代:1990

数据来源: WILEY

摘要:

AbstractThe case is presented of an elderly patient who had dementia, axial rigidity, and bradykinesia with limitation of horizontal and vertical gaze. Pathological examination disclosed Lewy and Lewy‐like bodies in the substantia nigra, locus ceruleus, and neocortex, leading to a final diagnosis of diffuse Lewy body disease. Similar inclusions were found in areas of the pons and midbrain believed to be associated with gaze control. Moderate numbers of neuritic plaques, but no neurofibrillary tangles, were present in limbic cortex and neocortex. Review of the literature has not shown previous association of diffuse Lewy body disease with both horizontal and vertical gaze anomalie

ISSN:0885-3185    

DOI:10.1002/mds.870050209

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

年代:1990

数据来源: WILEY

摘要:

AbstractTen patients with idiopathic Parkinson's disease and motor fluctuations were rated for mood changes during discrete “off,” “on,” and “on with dyskinesia” periods. The Profile of Mood States and visual analogue scales were used. Significant changes in mood and anxiety were found to parallel changes in motor fluctuations. One patient rated his moods as consistently improving from the “off” state to the “on” state and finally to the “on with dyskinesia” state, a finding that is consistent with concomitant central dopaminergic changes. All other patients showed moods that improved significantly from the “off” state to the “on” state but then worsened significantly in the “on with dyskinesia” state, a finding that is consistent with the fact that patients feel worse when impaired by dyskinesias. It is suggested that these results argue for multiple etiologies of depression in Parkinson's disease. The literature on dopamine and depression in Parkinson's disease is briefly reviewed and the opportunity provided by “on‐off” phenomena to study the effect

ISSN:0885-3185    

DOI:10.1002/mds.870050210

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe describe two patients with Gilles de la Tourette's syndrome (TS) and disabling obsessive‐compulsive and ritualistic behaviors who underwent bilateral radiofrequency anterior cingulotomy. Both achieved a limited but sustained improvement in behavioral symptoms and overall functional abilities. Our observations indicate involvement of limbic structures in this disorder. The procedure should be considered for patients with TS complicated by resistant obsessive‐compulsive disor

ISSN:0885-3185    

DOI:10.1002/mds.870050211

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

年代:1990

数据来源: WILEY