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Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well-characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H)(More)
Signs or symptoms of impaired autonomic regulation of circulation often attend Parkinson disease (PD). This review covers biomarkers and mechanisms of autonomic cardiovascular abnormalities in PD and related alpha-synucleinopathies. The clearest clinical laboratory correlate of dysautonomia in PD is loss of myocardial noradrenergic innervation, detected by(More)
PURPOSE Partial nephrectomy is performed for renal masses as a means of preserving renal function. Renal artery pseudoaneurysm is a potential complication of partial nephrectomy. We determined the incidence of renal artery pseudoaneurysm after open and minimally invasive partial nephrectomy, and performed a comparative analysis. MATERIALS AND METHODS We(More)
BACKGROUND As a common neurological disorder, the diagnosis of essential tremor (ET) is considered routine. Despite this, previous work suggests that misdiagnoses may be common. Among other things, these misdiagnoses can lead to treatment errors. OBJECTIVES To estimate how often other tremor disorders are misdiagnosed as ET and to identify factors that(More)
Parkinson disease (PD) is a neurodegenerative disorder afflicting more than 1 million aging Americans, incurring $23 billion in annual medical costs in the U.S. alone. Approximately 90% Parkinson patients undergoing treatment have mobility related problems related to medication which prevent them doing their activities of daily living. Efficient management(More)
Changes in cardiovascular physiology in Parkinson's disease (PD) are common and may occur prior to diagnostic parkinsonian motor signs. We investigated associations of electrocardiographic (ECG) abnormalities, orthostasis, heart rate variability, and carotid stenosis with the risk of PD diagnosis in the Cardiovascular Health Study, a community-based cohort(More)
Both pathologic and clinical studies of autonomic pathways have expanded the concept of Parkinson disease (PD) from a movement disorder to a multi-level widespread neurodegenerative process with non-motor features spanning several organ systems. This review integrates neuropathologic findings and autonomic physiology in PD as it relates to end organ(More)
Olfactory impairment occurs early in Parkinson’s disease (PD), as may dysautonomia. We investigated the relationship between olfaction and dysautonomia as well as other non-motor manifestations of PD. Olfaction [University of Pennsylvania Smell Identification Test (UPSIT)], autonomic function in the pupillary (constriction and redilation velocity) and(More)
BACKGROUND/AIMS Studies suggest an inverse association between urate concentration and the risk of Parkinson disease (PD). We investigated this in the Cardiovascular Health Study in an elderly community-based cohort of adults. METHODS The association of baseline urate (µmol/l) and incident PD over 14 years was assessed with locally weighted scatterplot(More)
OBJECTIVES To compare the 1973 and 2004 World Health Organization (WHO) systems for the interval to tumor recurrence (TR), tumor progression (TP), and overall survival (OS) using either the superficial/muscle invasive or strict TMN pathologic staging in patients with urothelial carcinoma with ≥10 years of follow-up. METHODS A total of 269 tumors from an(More)