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11.
Possible risk factors for primary adult onset dystonia: a
case-control investigation by the Italian Movement Disorders Study
Group 总被引:2,自引:1,他引:1 下载免费PDF全文
G. Defazio A. Berardelli G. Abbruzzese V. Lepore V. Coviello D. Acquistapace L. Capus F. Carella M. T. De Berardinis G. Galardi P. Girlanda S. Maurri A. Albanese L. Bertolasi R. Liguori A. Rossi L. Santoro G. Tognoni P. Livrea 《Journal of neurology, neurosurgery, and psychiatry》1998,64(1):25-32
OBJECTIVES—Little is known about the aetiology ofidiopathic adult onset dystonia. The Italian Movement Disorders StudyGroup promoted a case-control study on some hypothetical risk factorsincluding past medical events, life events, life habits, occupationalhazards, and family hystory of dystonia, parkinsonism, and tremor.
METHODS—Cases affected by idiopathic adult onsetdystonia (age at symptom onset >20 years, duration of disease >oneyear and <five years) were selected among consecutive outpatientsattending 14Italian centres. Control outpatients matched for age(±5 years), sex, and referral centre were identified amongdiagnostic categories thought to be unassociated with studyexposures. Information was obtained by a standardised questionnaireadministered by medical interviewers. Conditional logistic univariateand multivariate regression analyses were performed by a standardstatistical package.
RESULTS—Multivariate analysis on 202 cases and 202 age and sex matched control outpatients indicated that head or facialtrauma with loss of consciousness, family history of dystonia, andfamily history of postural tremor independently increased the risk of developing adult onset dystonia, whereas hypertension and cigarette smoking exerted a protective effect. The findings also suggested apositive association between local body injury—for example, previousocular diseases and neck or trunk trauma—and dystonia of the same body part.
CONCLUSIONS—The results support the idea thatenvironmental and genetic factors may both be important in theaetiology of adult onset dystonia, and suggest aetiological cluesworthy of further analytical investigation.
相似文献
METHODS—Cases affected by idiopathic adult onsetdystonia (age at symptom onset >20 years, duration of disease >oneyear and <five years) were selected among consecutive outpatientsattending 14Italian centres. Control outpatients matched for age(±5 years), sex, and referral centre were identified amongdiagnostic categories thought to be unassociated with studyexposures. Information was obtained by a standardised questionnaireadministered by medical interviewers. Conditional logistic univariateand multivariate regression analyses were performed by a standardstatistical package.
RESULTS—Multivariate analysis on 202 cases and 202 age and sex matched control outpatients indicated that head or facialtrauma with loss of consciousness, family history of dystonia, andfamily history of postural tremor independently increased the risk of developing adult onset dystonia, whereas hypertension and cigarette smoking exerted a protective effect. The findings also suggested apositive association between local body injury—for example, previousocular diseases and neck or trunk trauma—and dystonia of the same body part.
CONCLUSIONS—The results support the idea thatenvironmental and genetic factors may both be important in theaetiology of adult onset dystonia, and suggest aetiological cluesworthy of further analytical investigation.
相似文献
12.
13.
A. Zenzola G. Masi M. De Mari G. Defazio P. Livrea P. Lamberti 《Neurological sciences》2003,24(3):225-226
Abstract.
Fatigue is a recognized problem in Parkinsons disease and
other clinical conditions. We characterized this symptom in 19
patients and 19 age- and sex-matched controls, using the
Multidimensional Fatigue Inventory (MFI) and the Geriatric
Depression Scale. Fatigue may be an independent symptom in
Parkinsons disease, frequently associated with depression. Our
analysis showed the usefulness of the MFI in discriminating
between different dimensions of fatigue for a better therapeutic
approach. 相似文献
14.
A Victory N Brady J A Dohner M Defazio J Fusilero R Schlather L Vanblarcum 《Nursing management》1990,21(1):64Q-64R, 64T, 64V passim
15.
Giovanni Defazio Vito Lepore Luigi M. Specchio Francesco Pisani Paolo Livrea 《Epilepsia》1991,32(5):706-711
Forty-five outpatients with chronic epilepsy with complex partial seizures (CPS) alone or associated with secondarily generalized tonic-clonic seizures (SGTCS) were treated with carbamazepine (CBZ) monotherapy. All patients had only a unilateral scalp electroencephalographic (EEG) focus. Left- (n = 29) and right- (n = 16) sided foci patients were comparable for age, sex, duration, and etiology of epilepsy as well as total and free CBZ serum levels. CBZ significantly improved CPS irrespective of the side of the EEG focus, whereas SGTCS were controlled for greater than 1 year in 15 of 19 patients with left focus and in three of 11 patients with right focus. When patients with poorly controlled seizures discontinued CBZ and changed to other therapies, they achieved a significant reduction in number of SGTCS, whereas the number of CPS was unchanged. The side of EEG focus seemed to be relevant to the control of SGTCS by CBZ. Interhemispheric neurotransmitter asymmetries may be involved in the EEG focus side-dependent CBZ response. 相似文献
16.
17.
Stefano Zoccolella Paolo Lamberti Giovanni Iliceto Cosimo Diroma Elio Armenise Giovanni Defazio Simona V Lamberti Angela Fraddosio Michele de Mari Paolo Livrea 《Clinical chemistry and laboratory medicine》2005,43(10):1107-1110
Elevated plasma homocysteine (Hcy) concentrations are associated with Alzheimer's disease and vascular dementia. Several recent reports have indicated that L-dopa treatment is an acquired cause of hyperhomo-cysteinemia. Despite the fact that a large proportion of Parkinson's disease (PD) patients develop cognitive dysfunctions or dementia, particularly in the late stages of the illness and after long-term L-dopa treatment, the relationship between Hcy and dementia in PD has not been fully investigated. The aim of this study was to evaluate plasma Hcy levels in a group of L-dopa-treated PD patients with cognitive impairment and to elucidate a possible role of Hcy in the development of cognitive dysfunctions in PD. We compared Hcy, vitamin B12 and folate levels in 35 parkinsonian patients treated with L-dopa (14 with cognitive dysfunctions, 21 without cognitive impairment). Analysis of the data revealed that mean Hcy levels were significantly higher in the group with cognitive dysfunctions (21.2+/-7.4 vs. 15.8+/-4.4 micromol/L; p=0.0001), while there was no difference in age, sex, B12 and folate levels. In addition, logistic regression analysis showed that the risk of cognitive dysfunction progressively increased according to Hcy levels after correction for age, sex and B-vitamin status (odds ratio, 19.1; 95% CI, 1.5-241.4; p=0.02). Our results raise the possibility of a relationship between Hcy levels and cognitive dysfunctions in this group of L-dopa-treated PD patients. However, prospective studies on large cohorts of patients should be performed to clarify such an association. 相似文献
18.
Davide Martino Giovanni Defazio Gavin Giovannoni 《Journal of psychosomatic research》2009,(6):547-557
Diagnosis and treatment of the PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) variant of Gilles de la Tourette syndrome (GTS) and childhood-onset obsessive–compulsive disorder (OCD) are still controversial issues. Most cross-sectional studies confirm a significant association between GTS and the development of an immune response against group A β-hemolytic streptococcus (GABHS). Moreover, longitudinal retrospective studies suggest that a recent exposure to GABHS might be a risk factor for the onset of tics and obsessive–compulsive symptoms. However, further evidence from longitudinal prospective research is needed to verify whether a temporal association between GABHS infections and symptom exacerbations is a useful and reliable criterion for the diagnosis of PANDAS. In addition, preliminary results suggest that the PANDAS spectrum might be enlarged to include attention deficit/hyperactivity disorder.Although a number of immunological biomarkers have been proposed as markers of the PANDAS variant, at present, none of these has been conclusively proved useful to diagnose and monitor disease course in children with a suspicion of PANDAS.Finally, despite their empirical use in community settings, we still lack conclusive, evidence-based data regarding the usefulness of antibiotic and immunomodulatory treatments in children with PANDAS. Given the relevance of this topic for general pediatric health, additional research efforts to solve all the pending issues and the hottest points of debate are warranted. 相似文献
19.
Giovanni Defazio MD Mar Matarin PhD Elizabeth L. Peckham DO Davide Martino PhD Enza M. Valente PhD Andrew Singleton PhD Anthony Crawley BS Maria Stella Aniello MD Francesco Brancati PhD Giovanni Abbruzzese MD Paolo Girlanda MD Paolo Livrea MD Mark Hallett MD Alfredo Berardelli MD 《Movement disorders》2009,24(4):613-616
We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society 相似文献
20.
Francesco Roselli MD Nicola M. Pisciotta MD Robert Perneczky MD Michele Pennelli MSc Maria S. Aniello MD Maria F. De Caro PhD Ermanno Ferrannini MD Bruno Tartaglione MD Giovanni Defazio MD PhD Giuseppe Rubini MD Paolo Livrea MD PhD 《Movement disorders》2009,24(14):2097-2103
Neuropsychiatric symptoms are frequent in dementia with Lewy bodies (DLB). Dopamine transporter (DAT) imaging with 123I‐labeled ligand N‐δ‐(fluoropropyl)‐2β‐carbomethoxy‐3β‐(4‐iodophenyl)tropene (123I‐FP‐CIT), which reliably measures midbrain dopaminergic dysfunction, has provided important evidence on the neurobiological substrate of some of these symptoms including apathy and depression. However, little is known on DAT levels and other distressing symptoms such as delusions and hallucinations. Therefore, 123I‐FP‐CIT imaging was performed in 18 well‐characterized patients with DLB, and striatal DAT levels were correlated with the frequency/severity ratings of several neuropsychiatric symptoms. A wide range of neuropsychiatric symptoms could be observed in the sample. Significant correlations were observed between decreased striatal DAT levels and visual hallucinations. Although there were no correlations between striatal DAT levels and other neuropsychiatric symptoms, when considering the putamen and the caudate nucleus separately, delusions, depression, and apathy were inversely correlated to decreased caudate DAT levels. Theseresults provide intriguing evidence on the involvement of the mesocortical dopaminergic pathways in neuropsychiatric symptoms in DLB. © 2009 Movement Disorder Society 相似文献