Movement disorders : official journal of the Movement Disorder Society
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Glucocerebrosidase gene mutations represent a genetic risk factor for the development of Parkinson's disease. This study investigated brain alterations in Parkinson's disease patients carrying heterozygous glucocerebrosidase gene mutations using structural and diffusion tensor magnetic resonance imaging. Among 360 Parkinson's disease patients screened for glucocerebrosidase gene mutations, 19 heterozygous mutation carriers (5.3%) were identified. ⋯ In Parkinson's disease patients, verbal fluency scores correlated with white matter abnormalities. Parkinson's disease patients carrying glucocerebrosidase gene mutations experience a distributed pattern of white matter abnormalities involving the interhemispheric, frontal corticocortical, and parahippocampal tracts. White matter pathology in these patients may have an impact on the clinical manifestations of the disease, including cognitive impairment.
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Formulas were developed to define tremor dominant (TD) and postural instability/gait difficulty (PIGD) phenotypes of Parkinson's Disease (PD) using the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). TD and PIGD designations, based on the original Unified Parkinson's Disease Rating Scale (UPDRS), provided useful designations for classifying different phenotypes of PD. With the advent of the MDS-UPDRS, a valid set of calculations for these phenotypes is needed. ⋯ The development of comparable and valid PIGD and TD scores from the MDS-UPDRS provides a clear method for clinicians and researchers to transition from the original UPDRS to the new MDS-UPDRS in categorizing patients with different clinical phenotypes. © 2013 Movement Disorder Society.
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Randomized Controlled Trial
Effectiveness of multidisciplinary care for Parkinson's disease: a randomized, controlled trial.
Multidisciplinary care is considered an optimal model to manage Parkinson's disease (PD), but supporting evidence is limited. We performed a randomized, controlled trial (RCT) to establish whether a multidisciplinary/specialist team offers better outcomes, compared to stand-alone care from a general neurologist. Patients with PD were randomly allocated to an intervention group (care from a movement disorders specialist, PD nurses, and social worker) or a control group (care from general neurologists). ⋯ This RCT gives credence to a multidisciplinary/specialist team approach. We interpret these positive findings cautiously because of the limitations in study design. Further research is required to assess teams involving additional disciplines and to evaluate cost-effectiveness of integrated approaches. © 2012 Movement Disorder Society.
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Pathologic staging systems suggest that autonomic dysfunction may be an early manifestation of Parkinson's disease and dementia with Lewy bodies. However, direct evidence is limited, and no prospective studies have measured when autonomic dysfunction starts before disease. Patients with idiopathic rapid eye movement (REM) sleep behavior disorder are at very high risk of developing neurodegenerative synucleinopathy, providing an opportunity to directly observe the development of autonomic dysfunction from prodromal stages of neurodegeneration. ⋯ The estimated onset of autonomic dysfunction ranged from 11 years to 20 years, and systolic drop (20.4 years) and constipation (15.3 years) had the earliest estimates. Systolic drop, erectile dysfunction, and constipation could identify disease up to 5 years before diagnosis with sensitivity ranging from 50% to 90%. By directly observing development of neurodegenerative synucleinopathy, we confirmed that autonomic dysfunction can occur early in neurodegenerative synucleinopathy, even as long as 20 years before defined disease. © 2013 Movement Disorder Society.