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1. |
Twin studies and the genetics of Parkinson's disease—a reappraisal |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 187-194
William G. Johnson,
Susan E. Hodge,
Roger Duvoisin,
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摘要:
AbstractParkinson's disease (PD) has long been regarded as having a hereditary component. However, three recent twin studies have been interpreted as excluding any significant genetic component in the etiology of PD. In this article, we reexamine these twin studies and argue that such a conclusion is premature. We review statistical tests of twin concordance rates, including calculation ofG, the coefficient of genetic determination. When variation in a trait is due entirely to genetic factorsG= 1, and when variation in a trait is due entirely to nongenetic factorsG= 0. We conclude that: (a) low monozygotic concordance rates can be compatible with substantial genetic contribution to etiology; (b) the PD twin study data give substantial optimal values ofG(up to 0.78) but the very broad 95% confidence limits forGmake it impossible for the twin study data to prove or disprove a substantial genetic component to the etiology of PD; and (c) changing clinical concepts of PD have undermined the assumptions underlying the methodology of the PD twin studies. We review three genetic models that are biologically plausible for PD and are compatible with the low twin concordance rates. Finally, we suggest that further family studies, including linkage studies, are needed to resolve this question.
ISSN:0885-3185
DOI:10.1002/mds.870050302
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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2. |
Rett syndrome and associated movement disorders |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 195-202
Patricia M. FitzGerald,
Joseph Jankovic,
Alan K. Percy,
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摘要:
AbstractRett syndrome, a progressive neurodegenerative disorder described only in female subjects, is manifested by a wide spectrum of behavioral and motor abnormalities. We studied 32 patients with this disorder, ages 30 months to 28 years old, and characterized their extrapyramidal disturbance. The most common motor abnormalities were stereotyped movements and gait disturbance, seen in all patients. Bruxism, oculogyric crises, parkinsonism, and dystonia were also common, but myoclonus and choreoathetosis were seen only infrequently. The hyperkinetic movement disorders tended to dominate in younger patients, while bradykinetic disorders were more evident in the older patients. This study provides evidence that movement disorders seen in Rett syndrome reflect age‐related neurodegenerative changes in the basal gangli
ISSN:0885-3185
DOI:10.1002/mds.870050303
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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3. |
The metabolic anatomy of Parkinson's disease: Complementary [18F]fluorodeoxyglucose and [18F]fluorodopa positron emission tomographic studies |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 203-213
D. Eidelberg,
J. R. Moeller,
V. Dhawan,
J. J. Sidtis,
J. Z. Ginos,
S. C. Strother,
J. Cedarbaum,
P. Greene,
S. Fahn,
D. A. Rottenberg,
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摘要:
AbstractWe studied the metabolic anatomy of typical Parkinson's disease (PD) using [18F]fluorodeoxyglucose (FDG) and [18F]fluorodopa (FDOPA) and positron emission tomography (PET). Fourteen PD patients (mean age 49 years) had FDG/PET scans, of which 11 were scanned with both FDOPA and FDG. After the injection of FDOPA, brain uptake and arterial plasma radioactivity were monitored for 2 h. Striatal FDOPA uptake was analyzed with regard to a two‐compartment model, and target‐to‐background ratios (TBRs) and TBR‐versus‐time slopes were also calculated. Regional patterns of metabolic covariation were extracted from FDG/PET data using the Scaled Subprofile Model (SSM). SSM pattern weights, FDOPA uptake constants (Ki), TBRs, and TBR slopes were correlated with clinical measures for bradykinesia, rigidity, tremor, gait disturbance, left‐right asymmetry, dementia, and overall disease severity. In PD patients, rate constants for FDOPA uptake correlated with individual measures of bradykinesia (p = 0.001) and gait disability (p<0.05). SSM analysis revealed a distinct pattern of regional metabolic asymmetries, which correlated with motor asymmetries (p<0.001) and left‐right differences inKi(p<0.01). Our data suggest that in PD patients, FDG/PET and FDOPA/PET may provide unique and complementary information about underlying dise
ISSN:0885-3185
DOI:10.1002/mds.870050304
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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4. |
Central motor conduction to hand and leg muscles in Huntington's disease |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 214-218
V. Hömberg,
H. W. Lange,
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摘要:
AbstractUsing electromagnetic stimulation of motor cortex and cervical or lumbar roots, central conduction times to the thenar and abductor hallucis muscles bilaterally were determined in a population of 32 patients with definite Huntington's disease (HD) and 14 subjects at risk. The HD patients showed a wide variety of different severity of choreatic movements, disease duration, and total disability. None of the stimulation parameters (latency after cortical stimulation, amplitude, threshold, or central conduction time) revealed statistically significant abnormalities compared with a normal control group as well as between patient subgroups. The data indicate that central motor conduction to upper and lower extremity muscles remains normal in Huntington's disease irrespective of the severity of the disorder.
ISSN:0885-3185
DOI:10.1002/mds.870050305
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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5. |
Hypoxic‐ischemic damage of the basal ganglia case reports and a review of the literature |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 219-224
Kathleen Hawker,
Anthony E. Lang,
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摘要:
AbstractThree cases of movement disorders secondary to hypoxic‐ischemic encephalopathy are reported. Despite similarities among the clinical events, the neurological syndromes produced were dissimilar. Cerebral hypoxiaischemia typically produces lesions of the globus pallidus that may result in an akinetic rigid syndrome. Due to its unique blood supply,vascular insufficiencyis found to be a major factor. Lesions in the putamen also occur, and these tend to be associated with dystonia. Recent evidence supports aspecific neuronal sensitivityin the striatum, possibly due to afferent excitatory amino acid connections. These two components and changes in thelevels of neurotransmittersduring hypoxia‐ischemia may interact to produce varied clinical outcomes. These factors must also be considered when planning therapeutic interventi
ISSN:0885-3185
DOI:10.1002/mds.870050306
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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6. |
Clozapine‐responsive tremor in Parkinson's disease |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 225-229
J. H. Friedman,
M. C. Lannon,
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摘要:
AbstractClozapine is an atypical neuroleptic medication that is free of parkinsonian side effects and that has been reported to ameliorate the tremor of Parkinson's disease. We report (with videotape illustration) the dramatic improvement of severe yet classic rest tremors in one elderly nonpsychotic patient with Parkinson's disease and significant improvement in four others. We believe that clozapine, in low doses, may be a useful medication for the treatment of rest tremor in Parkinson's disease, even in cases without mental abnormalities.
ISSN:0885-3185
DOI:10.1002/mds.870050307
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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7. |
A controlled trial of piracetam in intellectually impaired patients with Parkinson's disease |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 230-234
Mary Sano,
Yaakov Stern,
Karen Marder,
Richard Mayeux,
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摘要:
AbstractTwenty patients with Parkinson's disease and marked intellectual impairment or dementia participated in a double‐blind placebo controlled trial of the nootropic, piracetam. A standardized neurological examination, a neuropsychological test battery, and a functional scale, The Sickness Impact Profile, were completed for all patients. They were then assigned by blind randomization to drug or placebo conditions receiving 3.2 g of piracetam or an identical amount of placebo for 12 weeks. The dose was increased to 4.8 g for an additional 12 weeks. Neurological, psychological, and functional measures were rated as improved, unchanged, or worsened in comparison to baseline performance. Twenty‐five percent of the patients did not complete the trial for reasons unrelated to the medication. Although there was a significant improvement on one subtest of the functional scale, no significant effects were demonstrated in cognitive or neurological measu
ISSN:0885-3185
DOI:10.1002/mds.870050308
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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8. |
Paroxysmal kinesigenic dystonic choreoathetosis associated with a thalamic infarct |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 235-238
Ann Camac,
Paul Greene,
Alex Khandji,
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摘要:
AbstractWe describe a patient with the development of paroxysmal kinesigenic dystonic choreoathetosis (PKDC) after a thalamic infarct. PKDC consists of brief episodes of dystonia or choreoathetosis triggered by movement. PKDC improves with anticonvulsants, and in some cases, with L‐Dopa or anticholinergics. We review PKDC, and relate its salient features to idiopathic and secondary torsion dystonia. We postulate a similar underlying pathophysiolog
ISSN:0885-3185
DOI:10.1002/mds.870050309
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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9. |
Clozapine for psychosis in Parkinson's disease |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 239-242
Ronald F. Pfeiffer,
Jasbir Kang,
Benjamin Graber,
Ruth Hofman,
James Wilson,
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摘要:
AbstractThe clinical efficacy of clozapine, an atypical antipsychotic, in treating levodopa‐induced hallucinations was investigated in five patients with Parkinson's disease under open label conditions. Two patients could not tolerate clozapine, even in doses as low as 12.5–25 mg daily, because of extreme sedation. Three patients could tolerate clozapine and experienced improvement or elimination of their hallucinations at doses below 100 mg daily. Despite a significant risk of adverse effects, cautious use of clozapine in low doses may be beneficial for patients with levodopa‐induced psychosis who do not respond to more conservative mea
ISSN:0885-3185
DOI:10.1002/mds.870050310
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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10. |
Evaluation of a modified inverted walking stick as a treatment for Parkinsonian freezing episodes |
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Movement Disorders,
Volume 5,
Issue 3,
1990,
Page 243-247
Mark A. Dietz,
Christopher G. Goetz,
Glenn T. Stebbins,
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摘要:
AbstractWe evaluated a modified inverted walking stick [visual cue (VC) stick] in Parkinson's disease patients with freezing episodes. Patients underwent baseline trials on a 60‐ft track with four walking conditions: unassisted, with a straight walking stick, with the VC stick, and on the track with parallel lines spaced every 12 in. Patients completed three trials of each condition in a randomized order, with total course time and number of freezes recorded. Patients were given the VC stick to use at home until subjective maximum functional benefit was obtained and were then brought back for a follow‐up objective evaluation. Eight patients completed the study. The straight stick and VC stick worsened patient performance as a group, while the parallel lines significantly improved group performance. However, two of the eight patients showed benefit from the VC stick. Improvement with parallel lines did not predict improvement with the VC stick. On follow‐up trials, the two who initially showed improvement with the VC stick continued to show improvement, while none of the other patients showed additional benefit from a learning effect. We conclude that the VC stick will help a small subpopulation of Parkinson's disease patients with freezing, and this subpopulation can be identified with the initial office visit
ISSN:0885-3185
DOI:10.1002/mds.870050311
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1990
数据来源: WILEY
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