ISSN:0885-3185    

DOI:10.1002/mds.870110402

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

年代:1996

数据来源: WILEY

摘要:

AbstractA large German family with “myoclonic dystonia with lightning jerks responsive to alcohol” was identified. Eleven affected pedigree members and six obligate gene carriers from five generations were identified. A description of one branch of this pedigree was published in 1964. Our examination 30 years after the initial report confirms the clinical syndrome of a nonprogressive movement disorder charcterized by myoclonic jerks affecting the proximal muscles and the muscles of the trunk, accompanied by mild dystonic features in some affected family members. Segregation analysis favors autosomal dominant inheritance with high, but incomplete, penetrance in males and much lower penetrance in females. Linkage analysis was performed using simple sequence repeat polymorphisms (CArepeats) closely associated with or spanning the chromosomal regions containing 15 candidate genes: the gene for early‐onset generalized torsion dystonia,DYTI(chromosome 9q34); the genes for subunits α2, β1, and γ1 (chromosome 4p12–4q13);for α1,α6,β2 and γ2(chromosome 5q31.1–5q31.3); for α4,α5,β3, and γ3 (chromosome 15q11–15q13); for ρ1 and ρ2 (chromosome 6q14–6q21) of the gamma‐aminobutyric acid A receptor; and for the alpha subunit of the glycine receptor (chromosome 5q31). By a combination of pairwise and multipoint linkage analysis, it could be excluded that any of these candidate gene bearing chromosomal regions contain the disease gene in this family. We also excluded major portions of three chromosomal regions syntenic with mouse chromosome 3, which carries the murine beta sub

ISSN:0885-3185    

DOI:10.1002/mds.870110403

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

年代:1996

数据来源: WILEY

摘要:

AbstractWe reviewed 21 studies (8 blinded and 13 open) on the treatment of botulinum toxin type A for cervical dystonia, directed to the health aspects used to evaluate the patients' response to treatment (Medline search 1985–1993, English language literature). The prerequisite for comparing the treatment results was that studies had to evaluate similar aspects of disease. The ICIDH model, outlined by the World Health Organization in 1980, orders the different health outcomes into distinct classes of disease consequences. Our aim was to order the health outcomes according to the model and, thus, to study the comparability of treatment outcomes. Three differences could be identified between the objective and the subjective instruments. (a) The aspects measured by the subjective instruments varied substantially; of the 22 different subjective instruments identified in 18 studies, 8 measured impairments, 5 disability, and 9 could not be classified according to the ICIDH model. The objective instruments measured impairments. (b) All objective instruments were multiitem, whereas only 2 of 22 subjective instruments could be identified as multiitem. (c) The subjective instruments were generally poorly documented with regard to the number of items, score range, or grading. We conclude that the treatment outcomes can only be compared on the objective level of assessment and with regard to the patients with painful dystonia. The subjective instruments, particularly those focusing on disease‐specific disability, deserve further research. The ICIDH model offers a useful framework for selection, improvement, and development of outcome instruments. Because the model clearly demarcates the different consequences of disease, adoption will enhance the comparability of outcomes in cervical dystonia intervention tri

ISSN:0885-3185    

DOI:10.1002/mds.870110404

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

年代:1996

数据来源: WILEY

摘要:

AbstractWe report the results of treatment of 16 patients (14 women, two men; 18–81 years old) with nonoccupational limb and trunk dystonia with botulinum toxin A (BTX; Dysport). A total of 18 clinical problems were identified. Outcomes were assessed in terms of pain relief and improvement in posture and function by the combined observations of the patient and physician. Patients' satisfaction with treatment was high–the benefit in 15 of 18 problems was rated as good to excellent. Reduction in pain was achieved in nine of 10 painful problems, with total relief in four cases. Some normalisation of posture was obtained in 17 of 18; it was complete in three cases. Functional improvement was less common (10 of 18). Excessive weakness was the most common side effect, affecting five patients, but it was disabling in only two. We conclude that BTX can provide substantial benefit with minimal side effects in the majority of patients with these conditions, particularly with pain relief and postural improveme

ISSN:0885-3185    

DOI:10.1002/mds.870110405

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

年代:1996

数据来源: WILEY

摘要:

AbstractMotor activity was quantitatively assessed over a period of 5 days using a wrist‐worn activity monitor in 14 patients with Huntington's disease (of whom 4 used neuroleptic drugs) and 14 age and sex‐matched healthy controls. Additionally, patients were rated for dementia, depression, clinical impairment of motor tasks, chorea, and disability. A significant decrease in daytime motor activity was observed in patients compared with controls, suggesting hypokinesia rather than hyperkinesia. Hypokinesia tended to be more severe in patients using neuroleptic drugs. Lower activity levels were significantly related to lower scores of functional disability, but not to other clinical measures. We conclude that hypokinesia is a prominent manifestation in Huntington's disease that is worsened by the use of neurolept

ISSN:0885-3185    

DOI:10.1002/mds.870110406

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

年代:1996

数据来源: WILEY

摘要:

AbstractIdiopathic restless legs syndrome (RLS) frequently follows an autosomal dominant inheritance with a variable clinical expressivity of symptoms. We describe the largest German kindred of familial RLS with 20 affected and investigated members in four generations with a variety of clinical symptoms. Patients were examined clinically, and polysomnography was performed in selected cases. The diagnosis was set according to the diagnostic criteria of the International RLS study Group. All patients showed sensory symptoms of their legs and a worsening of symptoms with increasing age. Older patients, who needed treatment, responded well to opioids. Segregation ratios were close to 0.5, confirming a virtually complete penetrance. The mean age of onset fell from 51.5 years in the second generation to 19.8 years in the fourth generation (ANOVA, p=0.025). The identification of presymptomatic carriers in the fourth generation in the following years, however, may prejudice this result. This large family showed the variety of clinical RLS symptoms with decreasing age of onset in generations II‐IV, suggesting at least the possibility of anitcipatio

ISSN:0885-3185    

DOI:10.1002/mds.870110407

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

年代:1996

数据来源: WILEY

摘要:

AbstractThis study examined the nature and prevalence of abnormal movements in adults with Down's syndrome and also the clinical correlates of orofacial dyskinesia and the relationship between dyskinesia and the level of functional and intellectual disability. Movement disorder, language age, and disability were assessed in an epidemiologically based sample of 145 individuals with Down's syndrome. Abnormal involuntary movements were common, with>90% exhibiting dyskinesia, predominantly orofacial. Stereotypies were present in one‐third of the sample. There was an association between the severity of dyskinesia and both current language age and functioning in terms of self‐care and practical and academic skills, which suggested that dyskinesia may be a marker of the severity of mental handicap. The presence of dyskinesia was unrelated to neuroleptic exposure. Dyskinesia and stereotypies are very common in individuals with Down's syndrome and may represent an inherent manifestation of the disorder. The relationship between mental age and dyskinesia in Down's syndrome warrants further resea

ISSN:0885-3185    

DOI:10.1002/mds.870110408

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

年代:1996

数据来源: WILEY

摘要:

AbstractIn the few reports where electrophysiologic techniques have been used to characterise stimulus sensitive myoclonus in the setting of a parkinsonian syndrome, the origin of the myoclonus has usually been found to be cortical. We describe a patient with parkinsonism unresponsive to levodopa who had myoclonus that was both spontaneous and induced by somatosensory stimuli. In addition, autonomic symptoms and a marked sleep disturbance were present early in his illness. Results of electrophysiologic investigations including electromyography (EMG) studies, routine electroencephalography (EEG) recording, jerked locked back‐averaging of EEG, and somatosensory evoked potentials were consistent with a brainstem origin for the myoclonic jerks. Following ipsilateral digital and supraorbital electrical stimulation, the earliest muscle activation occurred in the trapezius. An all night sleep study showed frequent myoclonic jerks during sleep and markedly abnormal sleep architecture. We believe that this patient's myoclonus was related to pathologic changes in brainstem reticular nuclei that occurred as part of his disease process. To our knowledge, brainstem myoclonus has not been described as a feature of parkinsonian syndrome

ISSN:0885-3185    

DOI:10.1002/mds.870110409

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

年代:1996

数据来源: WILEY

摘要:

AbstractWe tested the hypothesis that the relaxation reaction time in Parkinson's disease (PD) is delayed, as a sign of disorder in the control of voluntary motoneuron derecruitment. We compared, in the triceps brachii muscle, the reaction times (RTs) of the onset (O‐RT) of electromyographic (EMG) activity during initation of a contraction with the RTs of the termination of EMG tonic activity during full relaxation (R‐RTs). Fourteen patients with idiopathic PD and 10 normal controls were examined. Mean R‐RTs for all controls were 30 ms shorter than mean O‐RTs. Mean R‐RTs for all patients were ∼70 ms longer than mean O‐RTs. In two untreated patients levodopa therapy improved both O‐RT and R‐RT, but the difference between the two was unchanged. There was no correlation between EMG level and R‐RT or between peak force and O‐RT in either controls or patients. O‐RT and R‐RT were correlated with the bradykinesia score. In some patients, bursts of late activity were recorded after the R‐RT; the duration of this activity was correlated with the duration and staging of the disease and with bradykinesia and rigidity scores. The reversed latency of onset and termination of muscle contraction in PD suggests an abnormality in the inhibitory spinal mechanisms, possibly stemming from a defect in the pathways de

ISSN:0885-3185    

DOI:10.1002/mds.870110410

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

年代:1996

数据来源: WILEY

摘要:

AbstractPainful sensory complaints are known to occur in Parkinson's disease, but painful oral or genital syndromes have not been described. We report seven individuals with presumed idiopathic Parkinson's disease and one with atypical parkinsonism who experienced chronic severe oral or genital pains that appeared to be examples of a primary sensory disturbance related to the underlying parkinsonism. In each case, the pain syndrome overshadowed the other features of the parkinsonism. Five patients experienced oral pain and three patients, all women, had genital pain. No other definable organic cause was detected to explain the symptoms in any case. The genital pain tended to fluctuate in severity with the motor manifestations of the parkinsonism and could be abolished or reduced by levodopa. The recognition of painful oral or genital sensations in patients with parkinsonism should lead to further study regarding the prevalence, neurochemical basis, and treatment for these disabling symptoms.

ISSN:0885-3185    

DOI:10.1002/mds.870110411

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

年代:1996

数据来源: WILEY