Giovanni Defazio

..73; p = 0.001) whereas no correlation was found with number of packs of cigarettes per day. Coffee drinking may be inversely associated with the development of primary BSP and this association may partly depend on the amount consumed...

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..A significant inverse association between age at the onset of dystonia and education was observed in both cranial-cervical dystonia and upper limb dystonia series...

..To study the distribution of prior scoliosis among patients with primary adult-onset cervical dystonia (CD) and matched control subjects...

..To investigate the association between primary hemifacial spasm and arterial hypertension...

..As the aetiology of primary blepharospasm is largely unknown, therapeutic approaches are symptomatic, with type A botulinum toxin being the treatment of choice...

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..Previous family studies provided evidence that blepharospasm (BSP) can aggregate in families but did not give accurate and reliable information on the characteristics and degree of familial clustering...

..The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread...

..These sample size estimates suggest that the S-TDT may be feasible, whereas collection of cases for both TDT and ASP approaches would represent a major collaborative challenge...

..To determine whether pain is more frequent among people with Parkinson disease (PD) than among age-matched controls...

..These findings suggest that primary familial adult-onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene...

..These findings indicate that a TK- rather than a PKC-dependent mechanism is involved in the modulation of TNFalpha response by IFbeta-1a on BMECs...

..Prevalence rate increased with age. Apraxia of eyelid opening and BSP coexisted in one third of cases...

..Although environmental and genetic factors may contribute to the etiology of blepharospasm, their relative contribution in causing familial and sporadic blepharospasm is unknown...

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..Botulinum toxin A (BTX) is the currently preferred symptomatic treatment for primary hemifacial spasm (HFS), but its long-term efficacy and safety are not known...

..While limited, the body of epidemiological data support the idea that environmental and familial, possibly genetic, factors may both be important in the etiology of BSP...

..The differential risk of developing BSP, based on age at onset of ocular symptoms, suggests that age and eye diseases may interact in giving rise to BSP...

..SERT-dependent (123)I-FP-CIT uptake may allow a more comprehensive assessment of neurochemical disturbances in degenerative parkinsonisms and may have a value for differential diagnosis...

..015-1.4; p=0.03). CONCLUSIONS: Our results raise the possibility that Hcy plays a role in the development of dyskinesias, through its toxic effects on both dopaminergic neurons and non-substantia nigra, non-dopaminergic neurons...

..We show that IFNbeta-1a is strong regulator of the ICAM 1 RNA splicing machinery. Effect of IFNbeta-1a over expression of the ICAM 1 isoforms might have a relevant immunomoregulatory role in Multiple Sclerosis...

..The relationship between prior trauma and primary adult-onset dystonia is not well understood. Previous uncontrolled observations and exploratory case-control studies have yielded contradictory results...

..The frequency of scoliosis did not differ between blepharospasm patients and controls. This finding supports the hypothesis that environmental risk factors may be specific for a single form of adult-onset dystonia...

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..This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure...

..01). GA features shared by BSP and CD predominate over differences, suggesting common mechanisms underlying this phenomenon in the two forms of primary adult-onset dystonia...

..To test whether higher education accelerates Alzheimer's Disease (AD) progression rate through an effect on the cognitive reserve capabilities of an individual...

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..The only valid means of ascertaining dystonia among relatives remains neurological examination of at-risk subjects...

..The seresults provide intriguing evidence on the involvement of the mesocortical dopaminergic pathways in neuropsychiatric symptoms in DLB...

..Gray matter changes in the primary sensory cortex may represent a common trait of primary dystonias, including blepharospasm...

..Molecular imaging of optic pathway gliomas may be a valuable tool in the selection of therapeutic options...

..Furthermore, IFN beta-1a quenches the effects of PHA on the isoproterenol-induced accumulation of cyclic AMP (cAMP). We suggest that regulation of GPCRs responsiveness may be a relevant property of IFN beta-1a in MS...

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..Globus pallidus interna deep brain stimulation produced sustained benefit, with predominant improvements in disability...

..However, prospective studies on large cohorts of patients should be performed to clarify such an association...

..In this study we aimed at exploring the effect of this SNP upon the risk of developing common forms of primary adult-onset dystonia...

..These observations raise the possibility that probable dystonia represents formes frustes/mild phenotypes of dystonia rather than another movement disorder...

..0304 and 0.0431, respectively). These results indicate a reduction in NAA, and suggest striatal involvement in the pathogenesis IST...

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..5-10 nM) did not. These findings indicate that a PKC-dependent mechanism may affect TNFalpha signalling on different barrier properties of BMECs...

..These results indicate that the changes induced by LPS in the endothelial cells are prevented by IFNbeta-1a...

..In our study, 200 U/ml IFN-beta1a induced a reduction in adhesion of PBMC to HUVEC. The information reported herein may contribute to further elucidating some of the mechanisms of action of IFN-beta on vascular endothelium...

..AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related...

..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...

..Because soluble CD28 and CTLA-4 molecules might affect T cell activation, our findings suggest an additional means whereby IFN-beta therapy might exert its immunomodulatory effects in multiple sclerosis (MS)...

..Despite the growing number of reports describing adult-onset primary lower limb dystonia (LLD) this entity has never been systematically evaluated in the general population of patients with primary adult-onset dystonia...

..These results suggest that ABGA synthesis is not related to structural changes in grey and white matter (detectable with these methods) within frontostriatal circuits...

..Our analysis showed the usefulness of the MFI in discriminating between different dimensions of fatigue for a better therapeutic approach...

..These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family...

..16, P < 0.01). The low frequency of MM in PD probably relates to the complex interactions between the pathophysiological mechanisms leading to parkinsonian signs and the mechanisms responsible for movement lateralization...

..These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia...

..These results suggest an abnormal nociceptive input processing in pain-free PD patients which appears to be independent of clinical expression of parkinsonian motor signs and is not affected by dopaminergic stimulation...

..Signs of synkinesis were present in significant proportions of patients with primary or secondary HFS. The 2 forms differed in clinical presentation...

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..SAI and LAI did not significantly differ between the three groups. The abnormal cortical excitability observed in FD might represent an underlying trait predisposing to different clinical forms of dystonia...

..14; P = 0.002; 95% confidence interval 0.04-0.49). ANeA status does not differentiate a specific phenotype of GTS...

..Physiologic studies indicate increased plasticity and trigeminal sensitization. While botulinum neurotoxin injections are the mainstay of therapy, other therapies are on the horizon...