Brad Racette

..The neurological phenotype associated with welding exposures has not been well described. Prior epidemiologic evidence linking occupational welding to parkinsonism is mixed, and remains controversial...

..This symposium provided some converging evidence of the potential neurotoxic impact of Mn on the dopaminergic system and challenged existing paradigms on the pathophysiology of Mn in the central nervous system...

..The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia...

..Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD...

..Parkinson's disease (PD) is a neurodegenerative disorder with unknown cause. Genetic mutations account for a minority of cases but the role of environmental factors is unclear...

..Litigation and its peripheral effects may bias investigators, impede research efforts, and harm research participants, thereby undermining efforts to understand the cause of neurologic disease...

..36 +/- 1.23. The [18F]FDOPA PET endophenotype permits phenoconversion in multi-incident PD families and may increase LOD score accuracy and power of an informative pedigree...

..To estimate the prevalence of parkinsonism in welders in Alabama and to compare this prevalence with that in a general population sample...

..This case suggests that the clinical and pathophysiological features of manganese-associated parkinsonism may overlap with that of PD...

..Hydrocephalus associated with shunt malfunction can cause a distinct parkinsonian syndrome with greater dysfunction of projections from the medial substantia nigra to anterior striatum than in idiopathic Parkinson's disease...

..1, 95% CI: 0.94, 1.31). Urban Parkinson disease incidence is greater in counties with high reported industrial release of copper or manganese. Environmental exposure to metals may be a risk factor for Parkinson disease in urban areas...

..Parkinsonism as diagnosed by our criteria was common in this group of welders...

..abstract:..

..This is the first reported case of convergence insufficiency in IPD responsive to levodopa...

..To determine whether welding-related parkinsonism differs from idiopathic PD...

..We conclude that nucleus ventralis intermedius thalamic stimulation is safe and effective for primary writing tremor...

..We conclude that NBIA-1 pathology can develop at any age, and that the phenotype should be expanded to include late-onset parkinsonism. The relationship to hemiballismus and adult-onset dementia is less clear...

..However, we conclude that this screening questionnaire has inadequate sensitivity for detection of mild parkinsonism and direct examination is still critical for accurate classification for genetic studies...

..PD is largely a sporadic condition of unknown etiology, but specific inherited mutations are a cause of PD...

..Vim thalamic stimulation is an effective treatment option for recurrent tremor in patients who have undergone ipsilateral thalamotomy...

..Subsequent injections with botulinum toxin B provided substantial reduction of blepharospasm. This is the first reported case of secondary resistance to the new preparation of botulinum toxin A...

..Mean peak benefit from injections lasted 14 weeks. We conclude that denervation of salivary glands with botulinum toxin B produces excellent reduction of excessive salivation associated with parkinsonism...

..The authors conclude that systemic spread of BTX-B can cause symptomatic involvement of autonomic neurons...

..This association remained after removing effects of age and disease duration...

..Melanoma occurrence in our PD patients was greater than predicted compared with the general population and was unrelated to dopaminergic therapy. Clinical surveillance of PD patients for melanoma may be warranted...

..Parkinson disease is a common neurodegenerative disease. The racial, sex, age, and geographic distributions of Parkinson disease in the US are unknown...

..This information can help guide dosages of botulinum toxin A in the management of spasticity in children with cerebral palsy...

..Larger conjugal PD studies may permit stratification of concordant environmental exposures to determine dose responsiveness and relative contributions to PD risk...

..All doses were associated with a significant increase in passive range of motion using the Tardieu scale. We conclude that higher dose BTX-A is safe in children with a spectrum of CP phenotypes and are well tolerated over time...

..ROC analysis identified a cutoff FTT ratio of 0.670 or less was 89.1% specific and 76.9% sensitive for the diagnosis of PMD. We conclude the FTT can provide supportive evidence for the diagnosis of PMD...

..Different sites of onset of PTD confer different risks of spread, important for clinical prognosis. Different risks of spread may provide clues about underlying pathogenesis of adult-onset primary dystonias...

..No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD...

..With a multidisciplinary approach, children with lower-extremity hypertonicity due to CP can experience improvements in muscle tone and function...

..We found the investigators' level of confidence in these agents had no effect on the time to symptomatic therapy or on the change in UPDRS during 12 months of treatment...

..The data demonstrate beta-adrenergic-dependent inhibition of insulin action by levodopa-carbidopa and suggest that unrecognized insulin resistance may exist in chronically treated patients with Parkinson's disease...

..This case highlights the importance of physicians having adequate knowledge of primate and human literature on the lethal dose, 50% of botulinum toxin A before injecting children...

..We describe a patient with ring chromosome 21, with karyotype 46XX,r(21)(p11.2q22.3); 46,XX,dic r(21)(p11.2q22.3); 45, XX, -21, who developed childhood onset cervical dystonia...

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..The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the hypothesis that a pathogenic allele exists in a subgroup of PSP patients...

..This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene...

..The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD)...

..These data implicate NEDD9 as a novel susceptibility gene for LOAD and possibly PD...

..The cohort assembled will provide unique opportunities for future research projects into gene-environment interactions and exposure related neuroimaging changes. ..

..The cohort assembled will provide unique opportunities for future research projects into gene-environment interactions and exposure related neuroimaging changes. ..

..The MDC at Washington University School of Medicine provides the breadth of clinical and basic research experience required to be a productive site in this large, multi-center neuroprotective trial in PD. ..

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